#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
GABRD	2563	broad.mit.edu	37	1	1961513	1961513	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:1961513C>T	ENST00000378585.4	+	9	1234	c.1151C>T	c.(1150-1152)cCg>cTg	p.P384L		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	384					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|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.P384L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	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)	CGCCGCGTCCCGGGGAACCTG	0.687																																						uc001aip.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1150-1152)CCG>CTG		gamma-aminobutyric acid (GABA) A receptor, delta							24.0	28.0	26.0					1																	1961513		2198	4295	6493	SO:0001583	missense	2563					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.chr1:1961513C>T	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1151C>T	1.37:g.1961513C>T	ENSP00000367848:p.Pro384Leu						p.P384L	NM_000815	NP_000806	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	9	1246	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	384			Cytoplasmic (Probable).		Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.1151C>T	CCDS36.1	.	.	.	.	.	.	.	.	.	.	C	9.018	0.984122	0.18889	.	.	ENSG00000187730	ENST00000378585	D	0.84873	-1.91	3.82	2.89	0.33648	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.446739	0.22480	N	0.059516	T	0.66944	0.2841	N	0.14661	0.345	0.37248	D	0.906412	D	0.53151	0.958	B	0.38655	0.278	T	0.68153	-0.5484	10	0.07990	T	0.79	-17.1798	11.0819	0.48064	0.0:0.8119:0.1881:0.0	.	384	O14764	GBRD_HUMAN	L	384	ENSP00000367848:P384L	ENSP00000367848:P384L	P	+	2	0	GABRD	1951373	0.123000	0.22298	0.006000	0.13384	0.482000	0.33219	1.352000	0.34033	0.946000	0.37632	0.491000	0.48974	CCG		PASS	0.687	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		13	28	13	28	---	---	---	---
PLCH2	9651	broad.mit.edu	37	1	2411368	2411368	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:2411368G>A	ENST00000419816.2	+	3	741	c.467G>A	c.(466-468)gGc>gAc	p.G156D	PLCH2_ENST00000378486.3_Missense_Mutation_p.G156D|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.G156D|PLCH2_ENST00000449969.1_Missense_Mutation_p.G129D			O75038	PLCH2_HUMAN	phospholipase C, eta 2	156					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.G156D(1)|p.G3D(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CTCATGGCCGGCATCAGCGAC	0.682																																						uc001aji.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|ovary(1)|skin(1)	5						c.(466-468)GGC>GAC		phospholipase C, eta 2							23.0	28.0	26.0					1																	2411368		2166	4238	6404	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2411368G>A	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.467G>A	1.37:g.2411368G>A	ENSP00000389803:p.Gly156Asp					PLCH2_uc010nyz.1_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	p.G156D	NM_014638	NP_055453	O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	3	741	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	156					A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.467G>A		.	.	.	.	.	.	.	.	.	.	G	25.9	4.682649	0.88542	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889	T;T;T	0.24151	1.94;1.93;1.87	4.92	4.92	0.64577	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	1.324360	0.05286	N	0.520208	T	0.46502	0.1396	L	0.28694	0.88	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.21518	-1.0243	10	0.87932	D	0	.	17.4485	0.87585	0.0:0.0:1.0:0.0	.	156	O75038	PLCH2_HUMAN	D	129;156;156;3	ENSP00000397289:G129D;ENSP00000367747:G156D;ENSP00000367749:G156D	ENSP00000341313:G3D	G	+	2	0	PLCH2	2401228	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	9.515000	0.98015	2.459000	0.83118	0.491000	0.48974	GGC		PASS	0.682	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		3	46	3	46	---	---	---	---
RNF207	388591	broad.mit.edu	37	1	6273210	6273210	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:6273210C>T	ENST00000377939.4	+	16	1746	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	RNF207_ENST00000377948.2_3'UTR|RNF207_ENST00000483336.1_3'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	540						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S540F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TACGTCCGCTCCATTGCCAAG	0.632																																						uc001amg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1618-1620)TCC>TTC		ring finger protein 207							40.0	45.0	43.0					1																	6273210		1985	4153	6138	SO:0001583	missense	388591					intracellular	zinc ion binding	g.chr1:6273210C>T	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"""RING-type (C3HC4) zinc fingers"""	32947	protein-coding gene	gene with protein product	"""OTTHUMG00000001089"""		"""chromosome 1 open reading frame 188"""	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.1619C>T	1.37:g.6273210C>T	ENSP00000367173:p.Ser540Phe					RNF207_uc010nzp.1_RNA	p.S540F	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	16	1793	+	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	540					A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Missense_Mutation	SNP	ENST00000377939.4	37	c.1619C>T	CCDS59.2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825806	0.90955	.	.	ENSG00000158286	ENST00000377939	T	0.29142	1.58	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.56891	0.2016	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62329	-0.6877	10	0.87932	D	0	-2.3975	18.0859	0.89457	0.0:1.0:0.0:0.0	.	540	Q6ZRF8	RN207_HUMAN	F	540	ENSP00000367173:S540F	ENSP00000367173:S540F	S	+	2	0	RNF207	6195797	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	5.624000	0.67764	2.262000	0.75019	0.462000	0.41574	TCC		PASS	0.632	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396		14	70	14	70	---	---	---	---
TAS1R1	80835	broad.mit.edu	37	1	6634877	6634877	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:6634877G>A	ENST00000333172.6	+	3	878	c.685G>A	c.(685-687)Gag>Aag	p.E229K	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.E229K	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	229					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.E229K(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GCAGGCACTGGAGAACCAGGC	0.597																																						uc001ant.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(685-687)GAG>AAG		sweet taste receptor T1r isoform b							96.0	98.0	98.0					1																	6634877		2203	4300	6503	SO:0001583	missense	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6634877G>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.685G>A	1.37:g.6634877G>A	ENSP00000331867:p.Glu229Lys					TAS1R1_uc001anu.2_Intron|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_Missense_Mutation_p.E229K	p.E229K	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	3	685	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	229			Extracellular (Potential).		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.685G>A	CCDS81.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.83|11.83	1.755882|1.755882	0.31046|0.31046	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000333172;ENST00000328191|ENST00000411823	D;D|.	0.83992|.	-1.79;-1.79|.	5.4|5.4	3.38|3.38	0.38709|0.38709	Extracellular ligand-binding receptor (1);|.	0.599962|.	0.17410|.	N|.	0.175202|.	T|.	0.33323|.	0.0859|.	L|L	0.28776|0.28776	0.89|0.89	0.27640|0.27640	N|N	0.947756|0.947756	P;P|.	0.36789|.	0.57;0.507|.	B;B|.	0.40825|.	0.341;0.338|.	T|.	0.19877|.	-1.0292|.	10|.	0.09590|.	T|.	0.72|.	.|.	8.5135|8.5135	0.33231|0.33231	0.0783:0.2954:0.6263:0.0|0.0783:0.2954:0.6263:0.0	.|.	229;229|.	Q7RTX1-3;Q7RTX1|.	.;TS1R1_HUMAN|.	K|X	229|154	ENSP00000331867:E229K;ENSP00000327705:E229K|.	ENSP00000327705:E229K|.	E|W	+|+	1|3	0|0	TAS1R1|TAS1R1	6557464|6557464	0.924000|0.924000	0.31332|0.31332	0.992000|0.992000	0.48379|0.48379	0.297000|0.297000	0.27493|0.27493	1.265000|1.265000	0.33027|0.33027	1.219000|1.219000	0.43474|0.43474	0.655000|0.655000	0.94253|0.94253	GAG|TGG		PASS	0.597	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			17	97	17	97	---	---	---	---
SLC2A5	6518	broad.mit.edu	37	1	9097668	9097668	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:9097668G>T	ENST00000377424.4	-	12	1662	c.1483C>A	c.(1483-1485)Cca>Aca	p.P495T	SLC2A5_ENST00000535586.1_Missense_Mutation_p.P380T|SLC2A5_ENST00000536305.1_Missense_Mutation_p.P436T	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	495					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)	p.P495T(1)		endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GTGACAGGTGGAAGCTCTTTC	0.493																																						uc001apo.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1483-1485)CCA>ACA		solute carrier family 2 (facilitated							117.0	122.0	121.0					1																	9097668		2203	4300	6503	SO:0001583	missense	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9097668G>T	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.1483C>A	1.37:g.9097668G>T	ENSP00000366641:p.Pro495Thr					SLC2A5_uc010nzy.1_Missense_Mutation_p.P436T|SLC2A5_uc010nzz.1_Missense_Mutation_p.P380T|SLC2A5_uc010oaa.1_Missense_Mutation_p.P451T|SLC2A5_uc010oab.1_Missense_Mutation_p.P495T	p.P495T	NM_003039	NP_003030	P22732	GTR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	12	1775	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	495			Cytoplasmic (Potential).		Q14770|Q5T977|Q8IVB3	Missense_Mutation	SNP	ENST00000377424.4	37	c.1483C>A	CCDS99.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084820	0.55861	.	.	ENSG00000142583	ENST00000377424;ENST00000456780;ENST00000536305;ENST00000535586	T;T;T	0.80566	-1.11;-1.39;-1.02	5.71	3.84	0.44239	.	0.819706	0.11048	N	0.605398	T	0.79161	0.4399	L	0.29908	0.895	0.20074	N	0.999932	D;D;D	0.64830	0.994;0.994;0.994	P;P;P	0.56960	0.81;0.81;0.81	T	0.65689	-0.6107	10	0.30078	T	0.28	.	9.0861	0.36581	0.1695:0.0:0.8305:0.0	.	451;436;495	B4DG19;B4DU31;P22732	.;.;GTR5_HUMAN	T	495;478;436;380	ENSP00000366641:P495T;ENSP00000440688:P436T;ENSP00000442744:P380T	ENSP00000366641:P495T	P	-	1	0	SLC2A5	9020255	0.952000	0.32445	0.044000	0.18714	0.022000	0.10575	2.722000	0.47269	1.413000	0.46997	0.655000	0.94253	CCA		PASS	0.493	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		19	281	19	281	---	---	---	---
SLC2A5	6518	broad.mit.edu	37	1	9118277	9118277	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:9118277C>G	ENST00000377424.4	-	2	245	c.66G>C	c.(64-66)ctG>ctC	p.L22L	SLC2A5_ENST00000377414.3_Silent_p.L22L|SLC2A5_ENST00000535586.1_Intron	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	22					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)	p.L22L(2)		endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCAGCTATCAGGGTTGCCA	0.582																																						uc001apo.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(2)|ovary(1)	3						c.(64-66)CTG>CTC		solute carrier family 2 (facilitated							93.0	75.0	81.0					1																	9118277		2203	4300	6503	SO:0001819	synonymous_variant	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9118277C>G	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.66G>C	1.37:g.9118277C>G						SLC2A5_uc010nzz.1_Intron|SLC2A5_uc010oaa.1_5'UTR|SLC2A5_uc010oab.1_Silent_p.L22L|SLC2A5_uc010oac.1_Silent_p.L22L|SLC2A5_uc001app.3_Silent_p.L22L	p.L22L	NM_003039	NP_003030	P22732	GTR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	2	358	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	22			Helical; Name=1; (Potential).		Q14770|Q5T977|Q8IVB3	Silent	SNP	ENST00000377424.4	37	c.66G>C	CCDS99.1																																																																																				PASS	0.582	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		7	56	7	56	---	---	---	---
HNRNPCL1	343069	broad.mit.edu	37	1	12907714	12907714	+	Silent	SNP	C	C	T	rs138482466	byFrequency	TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:12907714C>T	ENST00000317869.6	-	2	654	c.429G>A	c.(427-429)tcG>tcA	p.S143S		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	143						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S143S(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GTTGACGTTTCGAGGGCACTA	0.483													.|||	2	0.000399361	0.0	0.0	5008	,	,		19848	0.0		0.0	False		,,,				2504	0.002					uc009vno.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(427-429)TCG>TCA		heterogeneous nuclear ribonucleoprotein C-like		C		1,4403		0,1,2201	112.0	115.0	114.0		429	-0.7	0.0	1	dbSNP_134	114	0,8598		0,0,4299	no	coding-synonymous	HNRNPCL1	NM_001013631.1		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		143/294	12907714	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	649330						nucleic acid binding|nucleotide binding	g.chr1:12907714C>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.429G>A	1.37:g.12907714C>T						HNRNPCL1_uc010obf.1_Silent_p.S143S	p.S143S	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN			1	524	-			143					B2RP44	Silent	SNP	ENST00000317869.6	37	c.429G>A	CCDS30591.1																																																																																				PASS	0.483	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		48	199	48	199	---	---	---	---
PRAMEF10	343071	broad.mit.edu	37	1	12954931	12954931	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:12954931C>G	ENST00000235347.4	-	3	431	c.352G>C	c.(352-354)Gga>Cga	p.G118R		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	118					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.G118R(1)		NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCTGGCTCCAGACCATATG	0.522																																						uc001auo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(352-354)GGA>CGA		PRAME family member 10							12.0	11.0	11.0					1																	12954931		1062	2511	3573	SO:0001583	missense	343071							g.chr1:12954931C>G	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.352G>C	1.37:g.12954931C>G	ENSP00000235347:p.Gly118Arg						p.G118R	NM_001039361	NP_001034450	O60809	PRA10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	425	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	118					Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	c.352G>C	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	11.70	1.715425	0.30413	.	.	ENSG00000187545	ENST00000235347	T	0.48836	0.8	1.99	1.99	0.26369	.	0.587120	0.14194	N	0.335153	T	0.62233	0.2411	M	0.78637	2.42	0.09310	N	1	D	0.65815	0.995	D	0.63488	0.915	T	0.47711	-0.9096	10	0.54805	T	0.06	.	7.5431	0.27751	0.0:1.0:0.0:0.0	.	118	O60809	PRA10_HUMAN	R	118	ENSP00000235347:G118R	ENSP00000235347:G118R	G	-	1	0	PRAMEF10	12877518	0.003000	0.15002	0.031000	0.17742	0.019000	0.09904	1.403000	0.34612	1.431000	0.47355	0.400000	0.26472	GGA		PASS	0.522	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		33	173	33	173	---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14107885	14107885	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:14107885G>C	ENST00000235372.7	+	8	4451	c.3595G>C	c.(3595-3597)Gaa>Caa	p.E1199Q	PRDM2_ENST00000343137.4_Missense_Mutation_p.E998Q|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.E1199Q|PRDM2_ENST00000413440.1_Missense_Mutation_p.E998Q|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E1199Q(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTGTAAAAAAGAATTTGCTTT	0.428																																						uc001avi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3595-3597)GAA>CAA		retinoblastoma protein-binding zinc finger							92.0	90.0	91.0					1																	14107885		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14107885G>C	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3595G>C	1.37:g.14107885G>C	ENSP00000235372:p.Glu1199Gln					PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.E1199Q|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.E998Q|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.E1199Q	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	4451	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1199			C2H2-type 6.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.3595G>C	CCDS150.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338522	0.60963	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	N	0.20483	0.58	0.54753	D	0.999983	P;D;D	0.89917	0.81;1.0;1.0	P;D;D	0.87578	0.759;0.996;0.998	T	0.03969	-1.0988	10	0.72032	D	0.01	.	19.2272	0.93822	0.0:0.0:1.0:0.0	.	1057;1199;1199	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	Q	1199;1199;1199;998;998	ENSP00000235372:E1199Q;ENSP00000312352:E1199Q;ENSP00000411103:E998Q;ENSP00000341621:E998Q	ENSP00000235372:E1199Q	E	+	1	0	PRDM2	13980472	1.000000	0.71417	0.999000	0.59377	0.841000	0.47740	8.003000	0.88520	2.894000	0.99253	0.655000	0.94253	GAA		PASS	0.428	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		13	184	13	184	---	---	---	---
PLEKHM2	23207	broad.mit.edu	37	1	16060319	16060319	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:16060319G>A	ENST00000375799.3	+	20	3177	c.2950G>A	c.(2950-2952)Gaa>Aaa	p.E984K	SLC25A34_ENST00000294454.5_5'Flank|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.E964K|PLEKHM2_ENST00000477849.1_3'UTR	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	984					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)	p.E1087K(1)|p.E984K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GGCGATCCAGGAAGCCTCCAA	0.637																																						uc010obo.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2950-2952)GAA>AAA		pleckstrin homology domain containing, family M							74.0	85.0	81.0					1																	16060319		2074	4198	6272	SO:0001583	missense	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16060319G>A	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2950G>A	1.37:g.16060319G>A	ENSP00000364956:p.Glu984Lys					SLC25A34_uc001axb.1_5'Flank	p.E984K	NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	20	3177	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	984					O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	ENST00000375799.3	37	c.2950G>A	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614382	0.87359	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.54479	0.59;0.57	5.62	5.62	0.85841	.	0.130636	0.52532	D	0.000072	T	0.39682	0.1087	N	0.24115	0.695	0.51482	D	0.999926	P	0.43094	0.799	B	0.35931	0.214	T	0.36866	-0.9730	10	0.45353	T	0.12	-14.0468	17.8419	0.88717	0.0:0.0:1.0:0.0	.	984	Q8IWE5	PKHM2_HUMAN	K	984;964	ENSP00000364956:E984K;ENSP00000364950:E964K	ENSP00000364950:E964K	E	+	1	0	PLEKHM2	15932906	1.000000	0.71417	0.988000	0.46212	0.691000	0.40173	8.996000	0.93539	2.633000	0.89246	0.655000	0.94253	GAA		PASS	0.637	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		16	82	16	82	---	---	---	---
ACTL8	81569	broad.mit.edu	37	1	18152793	18152793	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:18152793C>G	ENST00000375406.1	+	3	1096	c.880C>G	c.(880-882)Cac>Gac	p.H294D		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	294					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.H294D(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCTGGTCTCCCACGTGATGGC	0.652											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bat.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(880-882)CAC>GAC		actin-like 8							43.0	46.0	45.0					1																	18152793		2203	4300	6503	SO:0001583	missense	81569					cytoplasm|cytoskeleton		g.chr1:18152793C>G	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.880C>G	1.37:g.18152793C>G	ENSP00000364555:p.His294Asp		OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723		p.H294D	NM_030812	NP_110439	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	3	1096	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	294					Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	c.880C>G	CCDS183.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748631	0.69533	.	.	ENSG00000117148	ENST00000375406	T	0.07688	3.17	4.94	3.66	0.41972	.	0.145378	0.31531	N	0.007490	T	0.17704	0.0425	L	0.60455	1.87	0.27978	N	0.936139	D	0.59357	0.985	P	0.62560	0.904	T	0.04767	-1.0928	10	0.87932	D	0	-37.3312	5.0005	0.14262	0.183:0.67:0.0:0.147	.	294	Q9H568	ACTL8_HUMAN	D	294	ENSP00000364555:H294D	ENSP00000364555:H294D	H	+	1	0	ACTL8	18025380	1.000000	0.71417	0.311000	0.25182	0.020000	0.10135	2.330000	0.43885	0.805000	0.34159	0.655000	0.94253	CAC		PASS	0.652	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		20	96	20	96	---	---	---	---
ALDH4A1	8659	broad.mit.edu	37	1	19204081	19204081	+	Silent	SNP	G	G	A	rs150927009		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:19204081G>A	ENST00000375341.3	-	10	1223	c.966C>T	c.(964-966)ttC>ttT	p.F322F	ALDH4A1_ENST00000290597.5_Silent_p.F322F|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Silent_p.F262F|ALDH4A1_ENST00000538839.1_Silent_p.F322F	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	322					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)	p.F322F(4)		cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCGGTGCACGAAGTGGAAGT	0.657																																						uc001bbb.2																			4	Substitution - coding silent(4)		cervix(2)|lung(2)		0						c.(964-966)TTC>TTT		aldehyde dehydrogenase 4A1 isoform a precursor	NADH(DB00157)						23.0	23.0	23.0					1																	19204081		2203	4300	6503	SO:0001819	synonymous_variant	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19204081G>A	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.966C>T	1.37:g.19204081G>A						ALDH4A1_uc010ocu.1_Silent_p.F262F|ALDH4A1_uc001bbc.2_Silent_p.F322F	p.F322F	NM_170726	NP_733844	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	10	1242	-		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)	322					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Silent	SNP	ENST00000375341.3	37	c.966C>T	CCDS188.1																																																																																				PASS	0.657	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			3	21	3	21	---	---	---	---
HTR6	3362	broad.mit.edu	37	1	19992591	19992591	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:19992591C>G	ENST00000289753.1	+	1	812	c.345C>G	c.(343-345)ctC>ctG	p.L115L		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	115					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)	p.L115L(1)		endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	CCTCCATCCTCAACCTCTGCC	0.682																																					Esophageal Squamous(168;1879 2619 6848 21062)	uc001bcl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(343-345)CTC>CTG		5-hydroxytryptamine (serotonin) receptor 6	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						82.0	70.0	74.0					1																	19992591		2203	4300	6503	SO:0001819	synonymous_variant	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:19992591C>G	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.345C>G	1.37:g.19992591C>G							p.L115L	NM_000871	NP_000862	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	1	812	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	115			Helical; Name=3; (By similarity).		Q13640|Q5TGZ1	Silent	SNP	ENST00000289753.1	37	c.345C>G	CCDS197.1																																																																																				PASS	0.682	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		15	62	15	62	---	---	---	---
KIF17	57576	broad.mit.edu	37	1	21042067	21042067	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:21042067G>A	ENST00000247986.2	-	2	607	c.297C>T	c.(295-297)ttC>ttT	p.F99F	KIF17_ENST00000400463.3_Silent_p.F99F|KIF17_ENST00000375044.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	99	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.F99F(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCTGCATGGTGAAGGACTTCC	0.652																																						uc001bdr.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(295-297)TTC>TTT		kinesin family member 17 isoform a							96.0	80.0	86.0					1																	21042067		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21042067G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.297C>T	1.37:g.21042067G>A						KIF17_uc001bds.3_Silent_p.F99F	p.F99F	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	2	415	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	99			Kinesin-motor.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.297C>T	CCDS213.1																																																																																				PASS	0.652	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		23	54	23	54	---	---	---	---
EIF4G3	8672	broad.mit.edu	37	1	21268017	21268017	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:21268017G>C	ENST00000264211.8	-	8	1656	c.1462C>G	c.(1462-1464)Caa>Gaa	p.Q488E	EIF4G3_ENST00000536266.1_Missense_Mutation_p.Q92E|EIF4G3_ENST00000374927.4_Missense_Mutation_p.Q488E|EIF4G3_ENST00000544689.1_5'UTR|EIF4G3_ENST00000356916.3_Missense_Mutation_p.Q499E|EIF4G3_ENST00000602326.1_Missense_Mutation_p.Q494E|EIF4G3_ENST00000374937.3_Missense_Mutation_p.Q494E|EIF4G3_ENST00000400422.1_Missense_Mutation_p.Q488E|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000374935.3_Intron	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	488					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.Q494E(1)|p.Q488E(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TTTAAGTTTTGAGAATCCAAA	0.408																																						uc001bec.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1462-1464)CAA>GAA		eukaryotic translation initiation factor 4							197.0	202.0	200.0					1																	21268017		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21268017G>C	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1462C>G	1.37:g.21268017G>C	ENSP00000264211:p.Gln488Glu					EIF4G3_uc010odi.1_Missense_Mutation_p.Q92E|EIF4G3_uc010odj.1_Missense_Mutation_p.Q487E|EIF4G3_uc009vpz.2_Intron|EIF4G3_uc001bed.2_Missense_Mutation_p.Q488E|EIF4G3_uc001bef.2_Missense_Mutation_p.Q487E|EIF4G3_uc001bee.2_Missense_Mutation_p.Q494E|EIF4G3_uc001beg.2_Missense_Mutation_p.Q487E|EIF4G3_uc010odk.1_Missense_Mutation_p.Q488E|EIF4G3_uc001beh.2_Missense_Mutation_p.Q499E	p.Q488E	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	9	1718	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	488					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.1462C>G	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	3.521	-0.097787	0.07010	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000536266;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07	6.02	4.16	0.48862	.	0.272597	0.36268	N	0.002699	T	0.10852	0.0265	N	0.19112	0.55	0.23287	N	0.99797	B;B;B;B;B;B	0.29481	0.149;0.245;0.149;0.003;0.005;0.025	B;B;B;B;B;B	0.24541	0.033;0.05;0.054;0.004;0.009;0.015	T	0.29088	-1.0023	10	0.06757	T	0.87	-2.9709	10.808	0.46529	0.1461:0.0:0.8539:0.0	.	488;683;614;92;494;488	B4DXR2;Q59GJ0;B1AN89;F5H564;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	E	488;684;488;494;92;614;488;499	ENSP00000264211:Q488E;ENSP00000383274:Q488E;ENSP00000364073:Q494E;ENSP00000444693:Q92E;ENSP00000364062:Q488E	ENSP00000264211:Q488E	Q	-	1	0	EIF4G3	21140604	1.000000	0.71417	0.461000	0.27105	0.013000	0.08279	5.040000	0.64191	0.879000	0.35944	-0.157000	0.13467	CAA		PASS	0.408	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		54	349	54	349	---	---	---	---
RAP1GAP	5909	broad.mit.edu	37	1	21935429	21935429	+	Splice_Site	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:21935429C>A	ENST00000374765.4	-	16	1272	c.1072G>T	c.(1072-1074)Ggg>Tgg	p.G358W	RAP1GAP_ENST00000374763.2_Splice_Site_p.G358W|RAP1GAP_ENST00000374761.2_Splice_Site_p.G389W|RAP1GAP_ENST00000542643.2_Splice_Site_p.G358W|RAP1GAP_ENST00000290101.4_Splice_Site_p.G422W	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	358	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)	p.G358W(1)|p.G389W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AACTCAGGCCCCTGGAAACTC	0.517																																						uc001bex.2																			2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(1)	3						c.(1072-1074)GGG>TGG		RAP1 GTPase activating protein isoform c							126.0	121.0	123.0					1																	21935429		2203	4300	6503	SO:0001630	splice_region_variant	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21935429C>A	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1072-1G>T	1.37:g.21935429C>A						RAP1GAP_uc001bev.2_Missense_Mutation_p.G358W|RAP1GAP_uc001bew.2_Missense_Mutation_p.G422W|RAP1GAP_uc001bey.2_Missense_Mutation_p.G358W	p.G358W	NM_002885	NP_002876	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	16	1330	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	358			Rap-GAP.		J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	c.1072G>T	CCDS218.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367758	0.82463	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46	5.28	5.28	0.74379	Rap/ran-GAP (2);	0.055462	0.64402	D	0.000001	D	0.97688	0.9242	M	0.90542	3.125	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	P;D;D;D	0.85130	0.865;0.996;0.997;0.997	D	0.98541	1.0632	10	0.87932	D	0	-25.4288	16.3943	0.83563	0.0:1.0:0.0:0.0	.	358;358;388;358	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	W	422;389;358;358;388;358	ENSP00000290101:G422W;ENSP00000363893:G389W;ENSP00000441661:G358W;ENSP00000363897:G358W	ENSP00000290101:G422W	G	-	1	0	RAP1GAP	21808016	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.598000	0.46223	2.487000	0.83934	0.609000	0.83330	GGG		PASS	0.517	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885	Missense_Mutation	62	224	62	224	---	---	---	---
SFN	2810	broad.mit.edu	37	1	27189850	27189850	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:27189850G>C	ENST00000339276.4	+	1	218	c.147G>C	c.(145-147)aaG>aaC	p.K49N		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0	Exonuclease.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.K49N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		TAGCCTATAAGAACGTGGTGG	0.612																																						uc001bnc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(145-147)AAG>AAC		stratifin							48.0	52.0	50.0					1																	27189850		2203	4300	6503	SO:0001583	missense	2810				DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity	g.chr1:27189850G>C	BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"""14-3-3 sigma"""	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.147G>C	1.37:g.27189850G>C	ENSP00000340989:p.Lys49Asn					uc010ofi.1_RNA	p.K49N	NM_006142	NP_006133	P31947	1433S_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)	1	218	+		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	49					B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	ENST00000339276.4	37	c.147G>C	CCDS288.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918070	0.73098	.	.	ENSG00000175793	ENST00000339276;ENST00000538651	T	0.62364	0.03	5.84	4.93	0.64822	14-3-3 protein, conserved site (1);14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.82157	0.4976	M	0.92923	3.36	0.36516	D	0.869882	D	0.89917	1.0	D	0.97110	1.0	D	0.88022	0.2769	10	0.87932	D	0	-39.4238	10.5457	0.45058	0.1483:0.0:0.8517:0.0	.	49	P31947	1433S_HUMAN	N	49	ENSP00000340989:K49N	ENSP00000340989:K49N	K	+	3	2	SFN	27062437	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.802000	0.69122	1.459000	0.47892	0.655000	0.94253	AAG		PASS	0.612	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1	NM_006142		5	81	5	81	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28818243	28818243	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:28818243C>G	ENST00000373839.3	+	12	2221	c.1960C>G	c.(1960-1962)Caa>Gaa	p.Q654E	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.Q664E	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	654					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.Q664E(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-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;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AACAGATGCTCAAGATTATGA	0.468																																						uc001bpw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1960-1962)CAA>GAA		phosphatase and actin regulator 4 isoform 1							77.0	84.0	82.0					1																	28818243		1919	4143	6062	SO:0001583	missense	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28818243C>G	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1960C>G	1.37:g.28818243C>G	ENSP00000362945:p.Gln654Glu					PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.Q638E|PHACTR4_uc001bpy.2_Missense_Mutation_p.Q664E|PHACTR4_uc001bpz.2_RNA	p.Q654E	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	12	2242	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	654					A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	c.1960C>G	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251587	0.39797	.	.	ENSG00000204138	ENST00000373839;ENST00000373836	T;T	0.24723	1.85;1.84	5.77	5.77	0.91146	.	0.158802	0.56097	D	0.000023	T	0.15003	0.0362	N	0.16016	0.355	0.49798	D	0.999825	B;B	0.32862	0.001;0.387	B;B	0.26202	0.012;0.067	T	0.08432	-1.0722	10	0.08381	T	0.77	3.0E-4	19.0261	0.92932	0.0:1.0:0.0:0.0	.	664;654	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	E	654;664	ENSP00000362945:Q654E;ENSP00000362942:Q664E	ENSP00000362942:Q664E	Q	+	1	0	PHACTR4	28690830	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.962000	0.70364	2.737000	0.93849	0.558000	0.71614	CAA		PASS	0.468	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		27	75	27	75	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	33987111	33987111	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:33987111C>T	ENST00000373381.4	-	68	10725	c.10549G>A	c.(10549-10551)Ggc>Agc	p.G3517S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3373						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G3373S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTGACAGAGCCTTGGTAGATG	0.587																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(10117-10119)GGC>AGC		CUB and Sushi multiple domains 2							97.0	89.0	92.0					1																	33987111		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33987111C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10549G>A	1.37:g.33987111C>T	ENSP00000362479:p.Gly3517Ser					CSMD2_uc001bxm.1_Missense_Mutation_p.G3517S	p.G3373S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			67	10146	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3373			Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.10117G>A		.	.	.	.	.	.	.	.	.	.	C	24.9	4.585214	0.86748	.	.	ENSG00000121904	ENST00000373381	T	0.31247	1.5	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.59945	0.2231	M	0.77820	2.39	0.80722	D	1	D;B	0.89917	1.0;0.009	D;B	0.91635	0.999;0.009	T	0.60078	-0.7333	10	0.59425	D	0.04	.	19.2499	0.93919	0.0:1.0:0.0:0.0	.	3373;3517	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	3517	ENSP00000362479:G3517S	ENSP00000241312:G3373S	G	-	1	0	CSMD2	33759698	1.000000	0.71417	0.999000	0.59377	0.723000	0.41478	7.487000	0.81328	2.793000	0.96121	0.655000	0.94253	GGC		PASS	0.587	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		19	69	19	69	---	---	---	---
ZMYM4	9202	broad.mit.edu	37	1	35836084	35836084	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:35836084A>G	ENST00000314607.6	+	7	1117	c.1037A>G	c.(1036-1038)aAa>aGa	p.K346R	ZMYM4_ENST00000482131.1_3'UTR|ZMYM4_ENST00000373297.2_Missense_Mutation_p.K346R	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	346					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K346R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGTTGTAAAAAAATCCTCCAG	0.493																																						uc001byt.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1036-1038)AAA>AGA		zinc finger protein 262							74.0	77.0	76.0					1																	35836084		2203	4300	6503	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35836084A>G	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1037A>G	1.37:g.35836084A>G	ENSP00000322915:p.Lys346Arg					ZMYM4_uc009vuu.2_Missense_Mutation_p.K314R|ZMYM4_uc001byu.2_Missense_Mutation_p.K22R|ZMYM4_uc009vuv.2_Missense_Mutation_p.K85R|uc001byv.2_5'Flank	p.K346R	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN			7	1117	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	346					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.1037A>G	CCDS389.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.960097	0.74016	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.48836	0.8;0.8	5.27	5.27	0.74061	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	L	0.48986	1.54	0.53005	D	0.999967	P	0.50272	0.933	P	0.58391	0.838	T	0.58595	-0.7609	10	0.44086	T	0.13	-14.7456	15.194	0.73071	1.0:0.0:0.0:0.0	.	346	Q5VZL5	ZMYM4_HUMAN	R	346	ENSP00000322915:K346R;ENSP00000362394:K346R	ENSP00000322915:K346R	K	+	2	0	ZMYM4	35608671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.059000	0.89462	1.994000	0.58287	0.482000	0.46254	AAA		PASS	0.493	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		34	89	34	89	---	---	---	---
THRAP3	9967	broad.mit.edu	37	1	36754981	36754981	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:36754981C>T	ENST00000354618.5	+	5	1585	c.1361C>T	c.(1360-1362)tCt>tTt	p.S454F	THRAP3_ENST00000469141.2_Missense_Mutation_p.S454F	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	454	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.S454F(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAATTTATGTCTAAAGTCATA	0.438			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	uc001cae.3				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|breast(1)	9						c.(1360-1362)TCT>TTT		thyroid hormone receptor associated protein 3							72.0	74.0	73.0					1																	36754981		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36754981C>T	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1361C>T	1.37:g.36754981C>T	ENSP00000346634:p.Ser454Phe					THRAP3_uc001caf.3_Missense_Mutation_p.S454F|THRAP3_uc001cag.1_Missense_Mutation_p.S454F	p.S454F	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN			5	1585	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	454					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.1361C>T	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919849	0.73098	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.15834	2.39;2.39	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000008	T	0.38692	0.1050	L	0.59436	1.845	0.48830	D	0.99971	D	0.71674	0.998	D	0.65443	0.935	T	0.03773	-1.1005	10	0.87932	D	0	-2.3265	17.2906	0.87154	0.0:1.0:0.0:0.0	.	454	Q9Y2W1	TR150_HUMAN	F	454	ENSP00000346634:S454F;ENSP00000433825:S454F	ENSP00000346634:S454F	S	+	2	0	THRAP3	36527568	0.998000	0.40836	0.986000	0.45419	0.991000	0.79684	3.996000	0.57009	2.765000	0.95021	0.655000	0.94253	TCT		PASS	0.438	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		16	75	16	75	---	---	---	---
GJA9	81025	broad.mit.edu	37	1	39341602	39341602	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:39341602C>G	ENST00000360786.3	-	1	421	c.169G>C	c.(169-171)Gaa>Caa	p.E57Q	RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000454994.2_Missense_Mutation_p.E57Q|GJA9_ENST00000357771.3_Missense_Mutation_p.E57Q|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	57					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.E57Q(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CCTGGTTGTTCTGTATTGCAG	0.468																																						uc001cct.1																			1	Substitution - Missense(1)		lung(1)		0						c.(169-171)GAA>CAA		gap junction protein, alpha 9, 59kDa							191.0	188.0	189.0					1																	39341602		2203	4300	6503	SO:0001583	missense	81025				cell communication	connexon complex|integral to membrane		g.chr1:39341602C>G	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.169G>C	1.37:g.39341602C>G	ENSP00000354020:p.Glu57Gln					RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	p.E57Q	NM_030772	NP_110399	P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	450	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	57			Extracellular (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000360786.3	37	c.169G>C	CCDS432.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138758	0.37728	.	.	ENSG00000131233	ENST00000454994;ENST00000357771;ENST00000360786	D;D;D	0.99042	-5.36;-5.36;-5.36	4.82	1.77	0.24775	Connexin, conserved site (1);Connexin, N-terminal (2);	0.270973	0.34628	N	0.003802	D	0.95239	0.8456	N	0.00746	-1.225	0.35041	D	0.7597	P	0.46064	0.872	P	0.58620	0.842	D	0.92680	0.6157	10	0.13108	T	0.6	.	9.309	0.37891	0.0:0.6487:0.2731:0.0782	.	57	P57773	CXA9_HUMAN	Q	57	ENSP00000406846:E57Q;ENSP00000350415:E57Q;ENSP00000354020:E57Q	ENSP00000350415:E57Q	E	-	1	0	GJA9	39114189	0.973000	0.33851	0.992000	0.48379	0.994000	0.84299	1.916000	0.39986	0.264000	0.21851	0.650000	0.86243	GAA		PASS	0.468	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772		9	401	9	401	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42047743	42047743	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:42047743C>T	ENST00000372583.1	-	4	3611	c.2726G>A	c.(2725-2727)cGc>cAc	p.R909H	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R909H|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R909H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R909H	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	909	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R909H(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCTGCCAGGCGCAACCTCTT	0.582																																						uc001cgz.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2725-2727)CGC>CAC		human immunodeficiency virus type I enhancer							75.0	84.0	81.0					1																	42047743		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42047743C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2726G>A	1.37:g.42047743C>T	ENSP00000361664:p.Arg909His					HIVEP3_uc001cha.3_Missense_Mutation_p.R909H|HIVEP3_uc001cgy.2_RNA	p.R909H	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	3939	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	909			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Nuclear localization signal (Potential).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.2726G>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942507	0.92526	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	4.95	4.95	0.65309	.	0.000000	0.46758	D	0.000272	T	0.73313	0.3571	M	0.76727	2.345	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.76884	-0.2794	10	0.87932	D	0	-18.864	17.9567	0.89072	0.0:1.0:0.0:0.0	.	909;909	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	H	909	ENSP00000361665:R909H;ENSP00000361664:R909H;ENSP00000247584:R909H;ENSP00000410828:R909H	ENSP00000247584:R909H	R	-	2	0	HIVEP3	41820330	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.639000	0.83342	2.562000	0.86427	0.462000	0.41574	CGC		PASS	0.582	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		42	159	42	159	---	---	---	---
RIMKLA	284716	broad.mit.edu	37	1	42880512	42880512	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:42880512C>G	ENST00000431473.3	+	5	1172	c.1043C>G	c.(1042-1044)tCt>tGt	p.S348C		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	348					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.S307C(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GGGTCTACCTCTAGTGAAAGT	0.562																																						uc001chi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1042-1044)TCT>TGT		ribosomal modification protein rimK-like family							73.0	73.0	73.0					1																	42880512		2203	4300	6503	SO:0001583	missense	284716				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr1:42880512C>G	BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"""N-acetylaspartylglutamate synthetase II"""		"""family with sequence similarity 80, member A"""	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.1043C>G	1.37:g.42880512C>G	ENSP00000414330:p.Ser348Cys						p.S348C	NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN			5	1181	+			348					Q5VUS5	Missense_Mutation	SNP	ENST00000431473.3	37	c.1043C>G	CCDS466.2	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973503	0.34848	.	.	ENSG00000177181	ENST00000431473	.	.	.	5.23	5.23	0.72850	.	0.055151	0.85682	D	0.000000	T	0.58722	0.2142	L	0.59436	1.845	0.52501	D	0.999958	B	0.25390	0.125	B	0.24701	0.055	T	0.60959	-0.7159	9	0.72032	D	0.01	-21.5416	12.0977	0.53765	0.0:0.8268:0.1732:0.0	.	348	Q8IXN7	RIMKA_HUMAN	C	348	.	ENSP00000414330:S348C	S	+	2	0	RIMKLA	42653099	1.000000	0.71417	0.988000	0.46212	0.982000	0.71751	5.323000	0.65858	2.447000	0.82792	0.561000	0.74099	TCT		PASS	0.562	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		38	99	38	99	---	---	---	---
SLC2A1	6513	broad.mit.edu	37	1	43395312	43395312	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:43395312G>C	ENST00000426263.3	-	6	997	c.819C>G	c.(817-819)ctC>ctG	p.L273L	SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	273					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)	p.L273L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CCACAGCGATGAGGATGGGCT	0.627																																						uc001cik.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|pancreas(2)|ovary(1)	5						c.(817-819)CTC>CTG		solute carrier family 2 (facilitated glucose	Etomidate(DB00292)						70.0	68.0	68.0					1																	43395312		2203	4300	6503	SO:0001819	synonymous_variant	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43395312G>C	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.819C>G	1.37:g.43395312G>C							p.L273L	NM_006516	NP_006507	P11166	GTR1_HUMAN			6	1344	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	273			Helical; Name=7; (Potential).		A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Silent	SNP	ENST00000426263.3	37	c.819C>G	CCDS477.1																																																																																				PASS	0.627	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		15	63	15	63	---	---	---	---
SZT2	23334	broad.mit.edu	37	1	43909283	43909283	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:43909283G>A	ENST00000562955.1	+	61	8470	c.8470G>A	c.(8470-8472)Gag>Aag	p.E2824K	SZT2_ENST00000372442.1_Missense_Mutation_p.E1982K	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2881					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.E1982K(2)|p.E2824K(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCATCGCCCTGAGTCAGGGTC	0.617																																						uc001cjk.1																			3	Substitution - Missense(3)		lung(3)		0						c.(5944-5946)GAG>AAG		hypothetical protein LOC23334							64.0	67.0	66.0					1																	43909283		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43909283G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8470G>A	1.37:g.43909283G>A	ENSP00000457168:p.Glu2824Lys					KIAA0467_uc001cjl.1_5'Flank	p.E1982K	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			47	6406	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	2881					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.5944G>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689321	0.68271	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.36	5.36	0.76844	.	0.165949	0.51477	D	0.000093	T	0.56337	0.1978	L	0.34521	1.04	0.38329	D	0.943742	B	0.27656	0.184	B	0.29077	0.098	T	0.58853	-0.7563	9	0.52906	T	0.07	.	19.1475	0.93475	0.0:0.0:1.0:0.0	.	2824	Q5T011-5	.	K	1982	.	ENSP00000361519:E1982K	E	+	1	0	SZT2	43681870	1.000000	0.71417	0.985000	0.45067	0.796000	0.44982	7.942000	0.87708	2.514000	0.84764	0.650000	0.86243	GAG		PASS	0.617	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		28	95	28	95	---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44084309	44084309	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:44084309T>G	ENST00000359947.4	+	26	4720	c.4380T>G	c.(4378-4380)tgT>tgG	p.C1460W	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.C1451W|PTPRF_ENST00000422171.2_Missense_Mutation_p.C819W|PTPRF_ENST00000372414.3_Missense_Mutation_p.C1460W|PTPRF_ENST00000438120.1_Missense_Mutation_p.C1451W	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1460	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.C1450W(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGTAAAATGTGATCAGTACT	0.602																																						uc001cjr.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(4378-4380)TGT>TGG		protein tyrosine phosphatase, receptor type, F							103.0	95.0	98.0					1																	44084309		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44084309T>G	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.4380T>G	1.37:g.44084309T>G	ENSP00000353030:p.Cys1460Trp					PTPRF_uc001cjs.2_Missense_Mutation_p.C1451W|PTPRF_uc001cju.2_Missense_Mutation_p.C849W|PTPRF_uc009vwt.2_Missense_Mutation_p.C1020W|PTPRF_uc001cjv.2_Missense_Mutation_p.C931W|PTPRF_uc001cjw.2_Missense_Mutation_p.C686W	p.C1460W	NM_002840	NP_002831	P10586	PTPRF_HUMAN			26	4720	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1460			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.4380T>G	CCDS489.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	18.82|18.82|18.82	3.705277|3.705277|3.705277	0.68615|0.68615|0.68615	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000429895|ENST00000412568;ENST00000414879	T;T;T;T;T;T|.|.	0.41065|.|.	1.01;1.01;1.01;1.01;1.01;1.01|.|.	5.64|5.64|5.64	-4.12|-4.12|-4.12	0.03916|0.03916|0.03916	Protein-tyrosine phosphatase, receptor/non-receptor type (3);|.|.	0.000000|.|.	0.37095|.|.	N|.|.	0.002257|.|.	D|D|.	0.90089|0.90089|.	0.6904|0.6904|.	H|H|H	0.99933|0.99933|0.99933	4.98|4.98|4.98	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;1.0;1.0|.|.	D;D;D;D;D|.|.	0.97110|.|.	1.0;1.0;1.0;0.998;1.0|.|.	D|D|.	0.89639|0.89639|.	0.3861|0.3861|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	.|.|.	12.6318|12.6318|12.6318	0.56661|0.56661|0.56661	0.0:0.429:0.0:0.571|0.0:0.429:0.0:0.571|0.0:0.429:0.0:0.571	.|.|.	1105;819;1037;1451;1460|.|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.|.	.;.;.;.;PTPRF_HUMAN|.|.	W|G|G	1460;1451;1460;1451;819;532|1106|844;885	ENSP00000353030:C1460W;ENSP00000398822:C1451W;ENSP00000361491:C1460W;ENSP00000361490:C1451W;ENSP00000387885:C819W;ENSP00000361484:C532W|.|.	ENSP00000353030:C1460W|.|.	C|V|X	+|+|+	3|2|1	2|0|0	PTPRF|PTPRF|PTPRF	43856896|43856896|43856896	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.926000|0.926000|0.926000	0.36857|0.36857|0.36857	0.890000|0.890000|0.890000	0.51754|0.51754|0.51754	0.709000|0.709000|0.709000	0.25734|0.25734|0.25734	-0.979000|-0.979000|-0.979000	0.03529|0.03529|0.03529	-0.256000|-0.256000|-0.256000	0.11100|0.11100|0.11100	TGT|GTG|TGA		PASS	0.602	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			40	155	40	155	---	---	---	---
DPH2	1802	broad.mit.edu	37	1	44437296	44437296	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:44437296G>T	ENST00000255108.3	+	4	894	c.722G>T	c.(721-723)tGg>tTg	p.W241L	DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_Missense_Mutation_p.W106L|DPH2_ENST00000396758.2_Intron	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	241					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)		p.W241L(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CTCTTGGGGTGGGCACCAGGT	0.602																																						uc001ckz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(721-723)TGG>TTG		diphthamide biosynthesis protein 2 isoform a							61.0	64.0	63.0					1																	44437296		2203	4300	6503	SO:0001583	missense	1802				peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		g.chr1:44437296G>T	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.722G>T	1.37:g.44437296G>T	ENSP00000255108:p.Trp241Leu					DPH2_uc001cla.2_Intron|DPH2_uc010okk.1_Missense_Mutation_p.W106L|DPH2_uc001clb.2_Missense_Mutation_p.W165L	p.W241L	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN			4	917	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	241					A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	ENST00000255108.3	37	c.722G>T	CCDS504.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258440	0.39896	.	.	ENSG00000132768	ENST00000255108;ENST00000412950	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.50309	0.1608	N	0.08118	0	0.54753	D	0.999987	D;D	0.76494	0.999;0.997	D;D	0.83275	0.996;0.992	T	0.50725	-0.8794	8	.	.	.	-10.7285	12.8372	0.57780	0.0:0.0:1.0:0.0	.	106;241	B4DNI8;Q9BQC3	.;DPH2_HUMAN	L	241;106	.	.	W	+	2	0	DPH2	44209883	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	4.145000	0.58065	2.381000	0.81170	0.552000	0.68991	TGG		PASS	0.602	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384		22	109	22	109	---	---	---	---
CCDC24	149473	broad.mit.edu	37	1	44457911	44457911	+	Missense_Mutation	SNP	G	G	C	rs371285579		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:44457911G>C	ENST00000372318.3	+	3	325	c.154G>C	c.(154-156)Gag>Cag	p.E52Q	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000479055.1_3'UTR	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	52								p.E52Q(1)		endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACTGCTCCAAGAGGCTCGATC	0.637																																						uc001clj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(154-156)GAG>CAG		coiled-coil domain containing 24							81.0	89.0	87.0					1																	44457911		2203	4300	6503	SO:0001583	missense	149473							g.chr1:44457911G>C		CCDS507.1	1p34.1	2008-02-05			ENSG00000159214	ENSG00000159214			28688	protein-coding gene	gene with protein product						12477932	Standard	NM_152499		Approved	MGC45441	uc001clj.3	Q8N4L8	OTTHUMG00000008299	ENST00000372318.3:c.154G>C	1.37:g.44457911G>C	ENSP00000361392:p.Glu52Gln					SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Missense_Mutation_p.E8Q|CCDC24_uc009vxc.2_Intron	p.E52Q	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN			3	325	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	52					Q6RWT2	Missense_Mutation	SNP	ENST00000372318.3	37	c.154G>C	CCDS507.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478463	0.84747	.	.	ENSG00000159214	ENST00000372318	.	.	.	5.12	5.12	0.69794	.	0.152448	0.41194	D	0.000933	T	0.75874	0.3909	M	0.68952	2.095	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.68483	0.958;0.938	T	0.78471	-0.2191	9	0.72032	D	0.01	-21.8277	14.0358	0.64644	0.0:0.0:1.0:0.0	.	8;52	Q05BG8;Q8N4L8	.;CCD24_HUMAN	Q	52	.	ENSP00000361392:E52Q	E	+	1	0	CCDC24	44230498	0.969000	0.33509	0.219000	0.23793	0.984000	0.73092	4.822000	0.62686	2.371000	0.80710	0.313000	0.20887	GAG		PASS	0.637	CCDC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022865.1	NM_152499		29	108	29	108	---	---	---	---
TMEM53	79639	broad.mit.edu	37	1	45120367	45120367	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:45120367T>A	ENST00000372237.3	-	3	861	c.698A>T	c.(697-699)gAg>gTg	p.E233V	TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372235.3_Missense_Mutation_p.E203V	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	233						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E233V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					CAGGCGTGCCTCCACCATGCG	0.602																																						uc001cmc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(697-699)GAG>GTG		transmembrane protein 53							96.0	107.0	103.0					1																	45120367		2203	4300	6503	SO:0001583	missense	79639					integral to membrane		g.chr1:45120367T>A		CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.698A>T	1.37:g.45120367T>A	ENSP00000361311:p.Glu233Val					TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Missense_Mutation_p.E160V|TMEM53_uc009vxh.1_Missense_Mutation_p.E116V|TMEM53_uc010ola.1_Missense_Mutation_p.E116V	p.E233V	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN			3	734	-	Acute lymphoblastic leukemia(166;0.155)		233					B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Missense_Mutation	SNP	ENST00000372237.3	37	c.698A>T	CCDS511.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.046344	0.36085	.	.	ENSG00000126106	ENST00000372237;ENST00000372235	.	.	.	5.54	3.08	0.35506	.	0.477537	0.24722	N	0.036127	T	0.32224	0.0822	L	0.28556	0.865	0.38133	D	0.938223	B	0.31077	0.307	B	0.29663	0.105	T	0.27088	-1.0084	9	0.34782	T	0.22	.	2.6759	0.05081	0.1327:0.1347:0.1223:0.6103	.	233	Q6P2H8	TMM53_HUMAN	V	233;203	.	ENSP00000361309:E203V	E	-	2	0	TMEM53	44892954	0.003000	0.15002	0.997000	0.53966	0.828000	0.46876	0.982000	0.29539	2.103000	0.63969	0.460000	0.39030	GAG		PASS	0.602	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	NM_024587		35	142	35	142	---	---	---	---
PLK3	1263	broad.mit.edu	37	1	45268466	45268466	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:45268466G>A	ENST00000372201.4	+	6	927	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	230	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.E191K(1)		endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TGTGGCTCCAGAAGTGCTGCT	0.622																																						uc001cmn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(688-690)GAA>AAA		polo-like kinase 3							89.0	86.0	87.0					1																	45268466		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45268466G>A	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.688G>A	1.37:g.45268466G>A	ENSP00000361275:p.Glu230Lys					PLK3_uc001cmo.2_RNA	p.E230K	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN			6	788	+	Acute lymphoblastic leukemia(166;0.155)		230			Protein kinase.		Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.688G>A	CCDS515.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783756	0.90282	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.65732	-0.17	4.75	4.75	0.60458	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.88418	0.6431	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93707	0.7020	9	0.87932	D	0	-7.5851	16.3372	0.83068	0.0:0.0:1.0:0.0	.	230	Q9H4B4	PLK3_HUMAN	K	230;205	ENSP00000361275:E230K	ENSP00000361275:E230K	E	+	1	0	PLK3	45041053	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.752000	0.98900	2.178000	0.69098	0.555000	0.69702	GAA		PASS	0.622	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		23	124	23	124	---	---	---	---
EFCAB14	9813	broad.mit.edu	37	1	47173646	47173646	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:47173646C>G	ENST00000371933.3	-	3	1388	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	EFCAB14_ENST00000544071.1_Missense_Mutation_p.E138Q	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	138							calcium ion binding (GO:0005509)	p.E138Q(1)									TCAATCTTCTCAAGTTGTTTT	0.338																																						uc001cqk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(412-414)GAG>CAG		hypothetical protein LOC9813							111.0	106.0	107.0					1																	47173646		2203	4299	6502	SO:0001583	missense	9813						calcium ion binding	g.chr1:47173646C>G	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.412G>C	1.37:g.47173646C>G	ENSP00000361001:p.Glu138Gln					KIAA0494_uc010omh.1_Missense_Mutation_p.E138Q|KIAA0494_uc010omj.1_5'UTR|KIAA0494_uc001cql.1_Missense_Mutation_p.E138Q	p.E138Q	NM_014774	NP_055589	O75071	K0494_HUMAN			3	1389	-	Acute lymphoblastic leukemia(166;0.155)		138					D3DQ23|Q5SXB8	Missense_Mutation	SNP	ENST00000371933.3	37	c.412G>C	CCDS30706.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042053	0.55003	.	.	ENSG00000159658	ENST00000544071;ENST00000371933	T;T	0.28895	1.59;1.59	5.91	5.91	0.95273	.	0.093829	0.64402	D	0.000001	T	0.55465	0.1922	L	0.59436	1.845	0.58432	D	0.999991	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.80764	0.994;0.994;0.964	T	0.52888	-0.8515	10	0.72032	D	0.01	-16.0447	20.3011	0.98612	0.0:1.0:0.0:0.0	.	138;138;138	F5H7K3;B7Z444;O75071	.;.;K0494_HUMAN	Q	138	ENSP00000442465:E138Q;ENSP00000361001:E138Q	ENSP00000361001:E138Q	E	-	1	0	KIAA0494	46946233	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	7.270000	0.78493	2.809000	0.96659	0.555000	0.69702	GAG		PASS	0.338	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		11	170	11	170	---	---	---	---
SLC5A9	200010	broad.mit.edu	37	1	48694589	48694589	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:48694589C>A	ENST00000438567.2	+	3	354	c.302C>A	c.(301-303)gCt>gAt	p.A101D	SLC5A9_ENST00000236495.5_Missense_Mutation_p.A101D|SLC5A9_ENST00000420136.2_Missense_Mutation_p.A94D|SLC5A9_ENST00000533824.1_Missense_Mutation_p.A101D|RP5-1024N4.4_ENST00000606809.1_RNA	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	101					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A94D(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GGGACAGGGGCTGCCGGAGGC	0.577																																						uc001cro.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(301-303)GCT>GAT		solute carrier family 5 (sodium/glucose							80.0	76.0	77.0					1																	48694589		2203	4300	6503	SO:0001583	missense	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48694589C>A	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.302C>A	1.37:g.48694589C>A	ENSP00000401730:p.Ala101Asp					SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.A101D|SLC5A9_uc010omt.1_Missense_Mutation_p.A94D|SLC5A9_uc001crp.2_Translation_Start_Site|SLC5A9_uc010omu.1_Translation_Start_Site	p.A101D	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN			3	354	+			101			Extracellular (Potential).		B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	c.302C>A	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853668	0.91355	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495;ENST00000420136	D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.96433	0.8836	H	0.97340	3.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97249	0.9896	10	0.87932	D	0	.	14.0504	0.64732	0.0:0.9251:0.0:0.0749	.	101;101;101	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	D	101;101;101;94	ENSP00000431900:A101D;ENSP00000401730:A101D;ENSP00000236495:A101D;ENSP00000408881:A94D	ENSP00000236495:A101D	A	+	2	0	SLC5A9	48467176	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.917000	0.69989	2.764000	0.94973	0.557000	0.71058	GCT		PASS	0.577	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		18	95	18	95	---	---	---	---
ORC1	4998	broad.mit.edu	37	1	52854178	52854178	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:52854178G>A	ENST00000371568.3	-	8	1537	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F	ORC1_ENST00000371566.1_Missense_Mutation_p.S440F	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	440					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S440F(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGGTTCCTGGACACAGTTCT	0.493																																						uc001ctt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1318-1320)TCC>TTC		origin recognition complex, subunit 1							243.0	219.0	227.0					1																	52854178		2203	4300	6503	SO:0001583	missense	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52854178G>A		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1319C>T	1.37:g.52854178G>A	ENSP00000360623:p.Ser440Phe					ORC1L_uc010oni.1_Missense_Mutation_p.S440F|ORC1L_uc001ctu.2_Missense_Mutation_p.S440F|ORC1L_uc009vzd.2_Missense_Mutation_p.S194F	p.S440F	NM_004153	NP_004144	Q13415	ORC1_HUMAN			8	1538	-			440					D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	c.1319C>T	CCDS566.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786402	0.31593	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.45668	0.89;0.89	5.31	4.33	0.51752	.	0.494740	0.24012	N	0.042374	T	0.38480	0.1042	M	0.69823	2.125	0.09310	N	1	B;B	0.17038	0.02;0.009	B;B	0.17098	0.017;0.011	T	0.20107	-1.0285	10	0.41790	T	0.15	-7.6162	6.1976	0.20557	0.1575:0.0:0.8425:0.0	.	440;440	B7Z8H0;Q13415	.;ORC1_HUMAN	F	440	ENSP00000360623:S440F;ENSP00000360621:S440F	ENSP00000360621:S440F	S	-	2	0	ORC1	52626766	0.787000	0.28750	0.470000	0.27216	0.008000	0.06430	2.400000	0.44504	2.767000	0.95098	0.591000	0.81541	TCC		PASS	0.493	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		81	222	81	222	---	---	---	---
SCP2	6342	broad.mit.edu	37	1	53446098	53446098	+	Nonsense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:53446098A>T	ENST00000528311.1	+	9	909	c.613A>T	c.(613-615)Aga>Tga	p.R205*	SCP2_ENST00000371514.3_Nonsense_Mutation_p.R286*|SCP2_ENST00000473584.1_3'UTR|SCP2_ENST00000407246.2_Nonsense_Mutation_p.R262*|SCP2_ENST00000371509.4_Nonsense_Mutation_p.R242*|SCP2_ENST00000371513.5_Nonsense_Mutation_p.R242*	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.R286*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						AGAAGCTGCAAGAAAATGCTA	0.353																																						uc001cur.1																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(856-858)AGA>TGA		sterol carrier protein 2 isoform 1 proprotein							127.0	129.0	128.0					1																	53446098		2203	4300	6503	SO:0001587	stop_gained	6342				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	g.chr1:53446098A>T	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.613A>T	1.37:g.53446098A>T	ENSP00000434132:p.Arg205*					SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_Nonsense_Mutation_p.R205*|SCP2_uc010onp.1_Nonsense_Mutation_p.R262*|SCP2_uc009vzi.1_Nonsense_Mutation_p.R242*|SCP2_uc001cuq.1_Nonsense_Mutation_p.R242*	p.R286*	NM_002979	NP_002970	P22307	NLTP_HUMAN			10	977	+			286					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Nonsense_Mutation	SNP	ENST00000528311.1	37	c.856A>T	CCDS53319.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472696	0.84640	.	.	ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000371513	.	.	.	5.58	4.44	0.53790	.	0.412335	0.29172	N	0.012925	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8886	7.0075	0.24844	0.6412:0.2856:0.0731:0.0	.	.	.	.	X	286;205;242;262;242	.	ENSP00000360564:R242X	R	+	1	2	SCP2	53218686	0.992000	0.36948	0.994000	0.49952	0.793000	0.44817	2.476000	0.45171	1.029000	0.39812	-0.435000	0.05868	AGA		PASS	0.353	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979		35	178	35	178	---	---	---	---
MRPL37	51253	broad.mit.edu	37	1	54681865	54681865	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:54681865G>T	ENST00000360840.5	+	6	1119	c.1042G>T	c.(1042-1044)Gat>Tat	p.D348Y	MRPL37_ENST00000336230.6_Missense_Mutation_p.D217Y|MRPL37_ENST00000605337.1_Missense_Mutation_p.D348Y	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	348					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.D348Y(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						CGTGGGCACGGATGGACGTGT	0.517																																						uc001cxa.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1042-1044)GAT>TAT		mitochondrial ribosomal protein L37 precursor							182.0	158.0	166.0					1																	54681865		2203	4300	6503	SO:0001583	missense	51253				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:54681865G>T	AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.1042G>T	1.37:g.54681865G>T	ENSP00000354086:p.Asp348Tyr					MRPL37_uc009vzp.2_Missense_Mutation_p.D217Y|MRPL37_uc001cxb.1_Missense_Mutation_p.D348Y|MRPL37_uc001cxc.3_Missense_Mutation_p.D36Y|MRPL37_uc010oob.1_RNA	p.D348Y	NM_016491	NP_057575	Q9BZE1	RM37_HUMAN			6	1119	+			348					Q96Q67|Q9BWR1|Q9P0P3	Missense_Mutation	SNP	ENST00000360840.5	37	c.1042G>T	CCDS589.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541605	0.45280	.	.	ENSG00000116221	ENST00000360840;ENST00000329505;ENST00000336230	T;T	0.35048	1.33;1.33	5.38	4.47	0.54385	.	0.044242	0.85682	D	0.000000	T	0.59582	0.2204	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.999;0.996;1.0	D;D;D	0.81914	0.989;0.975;0.995	T	0.64867	-0.6306	10	0.87932	D	0	-11.4882	14.0142	0.64515	0.0729:0.0:0.9271:0.0	.	217;285;348	A6NHR2;E9PB99;Q9BZE1	.;.;RM37_HUMAN	Y	348;285;217	ENSP00000354086:D348Y;ENSP00000338526:D217Y	ENSP00000328799:D285Y	D	+	1	0	MRPL37	54454453	1.000000	0.71417	0.685000	0.30070	0.233000	0.25261	6.010000	0.70753	1.262000	0.44165	0.455000	0.32223	GAT		PASS	0.517	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	NM_016491		37	195	37	195	---	---	---	---
MROH7	374977	broad.mit.edu	37	1	55134563	55134563	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:55134563C>T	ENST00000421030.2	+	5	1627	c.1342C>T	c.(1342-1344)Ctg>Ttg	p.L448L	MROH7_ENST00000395690.2_Silent_p.L448L|MROH7_ENST00000545244.1_Silent_p.L16L|MROH7_ENST00000454855.2_5'UTR|MROH7_ENST00000339553.5_Silent_p.L448L|MROH7-TTC4_ENST00000414150.2_Silent_p.L448L|MROH7_ENST00000409996.1_Silent_p.L16L	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	448						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.L448L(4)									GAGCCAGGATCTGCTGGAGGC	0.557																																						uc010ooe.1																			4	Substitution - coding silent(4)		lung(4)		0						c.(1342-1344)CTG>TTG		hypothetical protein LOC374977							96.0	93.0	94.0					1																	55134563		1900	4130	6030	SO:0001819	synonymous_variant	374977					integral to membrane	binding	g.chr1:55134563C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1342C>T	1.37:g.55134563C>T						C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Silent_p.L16L|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_5'UTR|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.L448L|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	p.L448L	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			5	1666	+			448					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.1342C>T	CCDS41342.2																																																																																				PASS	0.557	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		10	135	10	135	---	---	---	---
PARS2	25973	broad.mit.edu	37	1	55224180	55224180	+	Missense_Mutation	SNP	C	C	A	rs200044481		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:55224180C>A	ENST00000371279.3	-	2	737	c.655G>T	c.(655-657)Gcc>Tcc	p.A219S		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	219					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)	p.A219S(1)		breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	GTCTGCTGGGCAGCCTCTGGG	0.567																																						uc001cxy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(655-657)GCC>TCC		prolyl-tRNA synthetase (mitochondrial)(putative)	L-Proline(DB00172)						53.0	50.0	51.0					1																	55224180		2203	4300	6503	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55224180C>A	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.655G>T	1.37:g.55224180C>A	ENSP00000360327:p.Ala219Ser						p.A219S	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN			2	738	-			219					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.655G>T	CCDS597.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023126	0.54683	.	.	ENSG00000162396	ENST00000371279	T	0.66638	-0.22	5.33	4.41	0.53225	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.056643	0.64402	D	0.000001	T	0.79317	0.4425	M	0.73962	2.25	0.80722	D	1	D	0.62365	0.991	D	0.66716	0.946	T	0.80885	-0.1182	10	0.56958	D	0.05	-20.79	13.4039	0.60900	0.0:0.925:0.0:0.075	.	219	Q7L3T8	SYPM_HUMAN	S	219	ENSP00000360327:A219S	ENSP00000360327:A219S	A	-	1	0	PARS2	54996768	1.000000	0.71417	0.785000	0.31869	0.163000	0.22366	5.894000	0.69806	2.488000	0.83962	0.650000	0.86243	GCC		PASS	0.567	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		12	71	12	71	---	---	---	---
HOOK1	51361	broad.mit.edu	37	1	60330868	60330868	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:60330868G>C	ENST00000371208.3	+	18	1952	c.1695G>C	c.(1693-1695)caG>caC	p.Q565H	HOOK1_ENST00000465876.1_Intron|HOOK1_ENST00000395561.2_Missense_Mutation_p.Q523H	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	565					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.Q565H(1)		biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AAGAATTACAGAAGAAACAAG	0.388																																						uc009wad.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1693-1695)CAG>CAC		hook homolog 1							71.0	73.0	72.0					1																	60330868		2203	4300	6503	SO:0001583	missense	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60330868G>C	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1695G>C	1.37:g.60330868G>C	ENSP00000360252:p.Gln565His					HOOK1_uc001czo.2_Missense_Mutation_p.Q565H|HOOK1_uc001czp.2_Intron|HOOK1_uc010oor.1_Missense_Mutation_p.Q523H	p.Q565H	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN			19	1797	+	all_cancers(7;0.000129)		565			Potential.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	c.1695G>C	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036894	0.75617	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.19532	2.14;2.14	6.03	4.17	0.49024	.	0.138317	0.64402	D	0.000004	T	0.39989	0.1099	L	0.58101	1.795	0.40909	D	0.984213	D	0.69078	0.997	D	0.69479	0.964	T	0.21518	-1.0243	10	0.54805	T	0.06	.	12.5936	0.56456	0.1332:0.0:0.8668:0.0	.	565	Q9UJC3	HOOK1_HUMAN	H	565;523	ENSP00000360252:Q565H;ENSP00000378928:Q523H	ENSP00000360252:Q565H	Q	+	3	2	HOOK1	60103456	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.283000	0.65621	0.895000	0.36342	0.650000	0.86243	CAG		PASS	0.388	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		25	91	25	91	---	---	---	---
CACHD1	57685	broad.mit.edu	37	1	65147010	65147010	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:65147010G>C	ENST00000371073.2	+	25	3476	c.3476G>C	c.(3475-3477)aGa>aCa	p.R1159T	CACHD1_ENST00000290039.5_Missense_Mutation_p.R1108T|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1159					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.R1108T(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CACGAAGACAGAGGCATCAGT	0.423																																						uc001dbo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3322-3324)AGA>ACA		cache domain containing 1							129.0	119.0	122.0					1																	65147010		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65147010G>C	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3476G>C	1.37:g.65147010G>C	ENSP00000360113:p.Arg1159Thr					CACHD1_uc001dbp.1_Missense_Mutation_p.R863T|CACHD1_uc001dbq.1_Missense_Mutation_p.R863T|CACHD1_uc010opa.1_Missense_Mutation_p.R352T	p.R1108T	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN			25	3428	+			1159			Cytoplasmic (Potential).		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.3323G>C		.	.	.	.	.	.	.	.	.	.	G	16.32	3.090700	0.55968	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.22945	1.93;1.94	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.30916	0.0780	L	0.34521	1.04	0.80722	D	1	D	0.54601	0.967	D	0.63597	0.916	T	0.01118	-1.1446	10	0.37606	T	0.19	-22.313	19.7173	0.96127	0.0:0.0:1.0:0.0	.	1159	Q5VU97	CAHD1_HUMAN	T	1159;1108	ENSP00000360113:R1159T;ENSP00000290039:R1108T	ENSP00000290039:R1108T	R	+	2	0	CACHD1	64919598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.388000	0.97237	2.724000	0.93272	0.563000	0.77884	AGA		PASS	0.423	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		19	88	19	88	---	---	---	---
DNAJC6	9829	broad.mit.edu	37	1	65852522	65852522	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:65852522C>G	ENST00000395325.3	+	8	1009	c.852C>G	c.(850-852)atC>atG	p.I284M	DNAJC6_ENST00000371069.4_Missense_Mutation_p.I341M|DNAJC6_ENST00000498720.1_3'UTR|DNAJC6_ENST00000263441.7_Missense_Mutation_p.I271M	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	284	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)	p.I284M(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ATGGAAAAATCTTCATTCCCT	0.418																																						uc001dcd.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(850-852)ATC>ATG		DnaJ (Hsp40) homolog, subfamily C, member 6							137.0	114.0	122.0					1																	65852522		2203	4300	6503	SO:0001583	missense	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65852522C>G	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.852C>G	1.37:g.65852522C>G	ENSP00000378735:p.Ile284Met					DNAJC6_uc001dcc.1_Missense_Mutation_p.I315M|DNAJC6_uc010opc.1_Missense_Mutation_p.I271M|DNAJC6_uc001dce.1_Missense_Mutation_p.I341M	p.I284M	NM_014787	NP_055602	O75061	AUXI_HUMAN			8	1016	+			284			C2 tensin-type.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	c.852C>G	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574964	0.45902	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.86366	-2.11;-2.11;-2.11	4.35	1.33	0.21861	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.062855	0.64402	D	0.000007	T	0.79828	0.4513	L	0.52011	1.625	0.38168	D	0.939242	P;P;P	0.50819	0.939;0.912;0.912	P;P;P	0.55011	0.654;0.766;0.573	T	0.78309	-0.2254	10	0.59425	D	0.04	.	1.5033	0.02481	0.2964:0.3885:0.1461:0.169	.	341;284;271	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	M	271;284;341	ENSP00000263441:I271M;ENSP00000378735:I284M;ENSP00000360108:I341M	ENSP00000263441:I271M	I	+	3	3	DNAJC6	65625110	0.924000	0.31332	1.000000	0.80357	0.997000	0.91878	-0.065000	0.11617	0.525000	0.28522	0.557000	0.71058	ATC		PASS	0.418	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			6	165	6	165	---	---	---	---
C1orf141	400757	broad.mit.edu	37	1	67591441	67591441	+	Nonsense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:67591441G>C	ENST00000371007.2	-	4	336	c.227C>G	c.(226-228)tCa>tGa	p.S76*	C1orf141_ENST00000371006.1_Nonsense_Mutation_p.S76*|C1orf141_ENST00000544837.1_Nonsense_Mutation_p.S76*	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	76								p.S76*(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTACATTTTTGATTTTGTAAT	0.358																																						uc001ddl.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(226-228)TCA>TGA		hypothetical protein LOC400757							279.0	261.0	267.0					1																	67591441		2203	4300	6503	SO:0001587	stop_gained	400757							g.chr1:67591441G>C	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.227C>G	1.37:g.67591441G>C	ENSP00000360046:p.Ser76*					C1orf141_uc001ddm.1_Nonsense_Mutation_p.S76*|C1orf141_uc001ddn.1_RNA	p.S76*	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN			3	338	-			76					Q0P5P5|Q5JVX5	Nonsense_Mutation	SNP	ENST00000371007.2	37	c.227C>G	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615433	0.66672	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000371004;ENST00000544837;ENST00000371005;ENST00000448166;ENST00000371003	.	.	.	4.17	0.914	0.19360	.	1.513690	0.04452	N	0.372829	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	0.4502	4.7005	0.12825	0.1113:0.0:0.4349:0.4538	.	.	.	.	X	76	.	ENSP00000360042:S76X	S	-	2	0	C1orf141	67364029	0.149000	0.22717	0.020000	0.16555	0.173000	0.22820	0.427000	0.21379	0.190000	0.20209	0.563000	0.77884	TCA		PASS	0.358	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		46	246	46	246	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70573482	70573482	+	Silent	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:70573482A>G	ENST00000035383.5	+	24	4509	c.4479A>G	c.(4477-4479)ctA>ctG	p.L1493L	LRRC7_ENST00000310961.5_Silent_p.L1451L|LRRC7_ENST00000415775.2_Silent_p.L777L	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1493	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.L1493L(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CATCAAACCTACTGCAGCCTG	0.408																																						uc001dep.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(4477-4479)CTA>CTG		leucine rich repeat containing 7							148.0	135.0	140.0					1																	70573482		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70573482A>G		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4479A>G	1.37:g.70573482A>G						LRRC7_uc009wbg.2_Silent_p.L777L|LRRC7_uc001deq.2_Silent_p.L687L	p.L1493L	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			24	4509	+			1493			PDZ.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.4479A>G	CCDS645.1																																																																																				PASS	0.408	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		27	200	27	200	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75037256	75037256	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:75037256C>T	ENST00000326665.5	-	14	4356	c.4138G>A	c.(4138-4140)Gat>Aat	p.D1380N	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1380	Glu-rich.							p.D1380N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCAGCAACATCTGAAAAGGAG	0.517																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(4138-4140)GAT>AAT		hypothetical protein LOC127254							115.0	113.0	113.0					1																	75037256		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037256C>T																												ENST00000326665.5:c.4138G>A	1.37:g.75037256C>T	ENSP00000322609:p.Asp1380Asn						p.D1380N	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4357	-			1380			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.4138G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889962	0.33348	.	.	ENSG00000178965	ENST00000326665	T	0.17213	2.29	5.0	1.75	0.24633	.	.	.	.	.	T	0.04003	0.0112	N	0.24115	0.695	0.80722	D	1	P	0.37955	0.612	B	0.39503	0.301	T	0.41627	-0.9498	9	0.28530	T	0.3	-0.5425	5.1267	0.14888	0.2894:0.5458:0.0:0.1647	.	1380	Q5RHP9	CA173_HUMAN	N	1380	ENSP00000322609:D1380N	ENSP00000322609:D1380N	D	-	1	0	C1orf173	74809844	1.000000	0.71417	0.475000	0.27278	0.378000	0.30076	1.233000	0.32648	0.463000	0.27118	0.561000	0.74099	GAT		PASS	0.517	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			43	217	43	217	---	---	---	---
ZZZ3	26009	broad.mit.edu	37	1	78098555	78098555	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:78098555C>T	ENST00000370801.3	-	5	960	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	162					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R162Q(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TCGACAAGCTCGTTTAGTCCC	0.393																																						uc001dhq.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(484-486)CGA>CAA		zinc finger, ZZ-type containing 3							172.0	172.0	172.0					1																	78098555		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78098555C>T	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.485G>A	1.37:g.78098555C>T	ENSP00000359837:p.Arg162Gln					ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.R162Q|ZZZ3_uc001dhp.2_Missense_Mutation_p.R162Q	p.R162Q	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			5	961	-			162					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.485G>A	CCDS677.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107808	0.37242	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.34	5.34	0.76211	.	0.544804	0.18807	N	0.130603	T	0.57301	0.2044	L	0.41236	1.265	0.80722	D	1	D;P;P	0.67145	0.996;0.89;0.933	P;B;B	0.57371	0.819;0.186;0.344	T	0.52525	-0.8564	8	.	.	.	.	19.4381	0.94806	0.0:1.0:0.0:0.0	.	162;162;162	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	Q	162	.	.	R	-	2	0	ZZZ3	77871143	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.415000	0.44635	2.649000	0.89929	0.650000	0.86243	CGA		PASS	0.393	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		73	365	73	365	---	---	---	---
ELTD1	64123	broad.mit.edu	37	1	79386062	79386062	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:79386062C>G	ENST00000370742.3	-	10	1330	c.1267G>C	c.(1267-1269)Gat>Cat	p.D423H		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	423					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D423H(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ATATTATAATCTTTAATACCC	0.294																																						uc001diq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1267-1269)GAT>CAT		EGF, latrophilin and seven transmembrane domain							43.0	41.0	42.0					1																	79386062		1785	4057	5842	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79386062C>G	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1267G>C	1.37:g.79386062C>G	ENSP00000359778:p.Asp423His						p.D423H	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	10	1423	-			423			Extracellular (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.1267G>C	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	6.521	0.464330	0.12402	.	.	ENSG00000162618	ENST00000370742	T	0.37584	1.19	5.41	4.49	0.54785	.	0.110744	0.64402	D	0.000004	T	0.04861	0.0131	N	0.01576	-0.805	0.36403	D	0.863242	B	0.06786	0.001	B	0.10450	0.005	T	0.32214	-0.9915	9	.	.	.	.	8.6715	0.34154	0.0:0.829:0.0:0.171	.	423	Q9HBW9	ELTD1_HUMAN	H	423	ENSP00000359778:D423H	.	D	-	1	0	ELTD1	79158650	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	2.416000	0.44644	2.699000	0.92147	0.650000	0.86243	GAT		PASS	0.294	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		21	72	21	72	---	---	---	---
MCOLN3	55283	broad.mit.edu	37	1	85499857	85499857	+	Missense_Mutation	SNP	G	G	C	rs202204650		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:85499857G>C	ENST00000370589.2	-	4	526	c.474C>G	c.(472-474)atC>atG	p.I158M	MCOLN3_ENST00000370587.1_Missense_Mutation_p.I158M|MCOLN3_ENST00000341115.4_Missense_Mutation_p.I102M|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	158					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I158M(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		AGTGCTGACAGATTGCCATAG	0.403																																						uc001dkp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(472-474)ATC>ATG		mucolipin 3							158.0	137.0	144.0					1																	85499857		2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85499857G>C	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.474C>G	1.37:g.85499857G>C	ENSP00000359621:p.Ile158Met					MCOLN3_uc001dkq.2_Missense_Mutation_p.I102M|MCOLN3_uc001dkr.2_Missense_Mutation_p.I158M|MCOLN3_uc001dks.3_Missense_Mutation_p.I3M	p.I158M	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	4	567	-			158					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.474C>G	CCDS701.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213451	0.39102	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	T;T;T	0.57752	0.38;0.38;0.38	5.86	4.91	0.64330	.	0.674813	0.15432	N	0.262676	T	0.29945	0.0749	L	0.43152	1.355	0.36024	D	0.838926	B;B;P;B	0.35527	0.02;0.046;0.507;0.374	B;B;B;B	0.38106	0.04;0.029;0.265;0.136	T	0.40251	-0.9573	10	0.56958	D	0.05	-2.3244	5.0231	0.14370	0.0728:0.112:0.5472:0.268	.	158;158;102;158	A8K841;B1ANB7;Q8TDD5-2;Q8TDD5	.;.;.;MCLN3_HUMAN	M	158;158;102;102;158	ENSP00000359621:I158M;ENSP00000342698:I102M;ENSP00000359619:I158M	ENSP00000304843:I158M	I	-	3	3	MCOLN3	85272445	1.000000	0.71417	0.998000	0.56505	0.855000	0.48748	0.638000	0.24674	2.777000	0.95525	0.655000	0.94253	ATC		PASS	0.403	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		34	135	34	135	---	---	---	---
SYDE2	84144	broad.mit.edu	37	1	85634814	85634814	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:85634814C>T	ENST00000341460.5	-	5	2815	c.2766G>A	c.(2764-2766)ttG>ttA	p.L922L		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	922	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.L922L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATGACATTTTCAAAGGACTTT	0.398																																						uc009wcm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2764-2766)TTG>TTA		synapse defective 1, Rho GTPase, homolog 2							155.0	146.0	149.0					1																	85634814		1872	4119	5991	SO:0001819	synonymous_variant	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85634814C>T	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.2766G>A	1.37:g.85634814C>T							p.L922L	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	5	2815	-			922			Rho-GAP.		Q5VT96|Q8NDB8|Q9H8A6	Silent	SNP	ENST00000341460.5	37	c.2766G>A	CCDS44169.1																																																																																				PASS	0.398	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			41	201	41	201	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86591095	86591095	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:86591095C>G	ENST00000370571.2	-	3	1290	c.924G>C	c.(922-924)caG>caC	p.Q308H	COL24A1_ENST00000436319.1_Missense_Mutation_p.Q308H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	308					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.Q308H(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATCTTGATATCTGGTGTTCTT	0.378																																						uc001dlj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(922-924)CAG>CAC		collagen, type XXIV, alpha 1 precursor							106.0	99.0	101.0					1																	86591095		1858	4105	5963	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86591095C>G	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.924G>C	1.37:g.86591095C>G	ENSP00000359603:p.Gln308His					COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.Q308H	p.Q308H	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	966	-			308					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.924G>C	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	0.050	-1.253728	0.01457	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94330	-3.4;-3.4	5.69	1.78	0.24846	.	0.000000	0.37577	N	0.002023	T	0.79082	0.4386	N	0.24115	0.695	0.09310	N	1	P;B	0.47253	0.892;0.412	P;B	0.49528	0.614;0.172	T	0.75001	-0.3471	10	0.14656	T	0.56	.	4.9626	0.14074	0.1351:0.5759:0.0:0.289	.	308;308	F8WDM8;Q17RW2	.;COOA1_HUMAN	H	308	ENSP00000359603:Q308H;ENSP00000392531:Q308H	ENSP00000359603:Q308H	Q	-	3	2	COL24A1	86363683	0.000000	0.05858	0.025000	0.17156	0.124000	0.20399	-0.281000	0.08456	0.077000	0.16863	0.563000	0.77884	CAG		PASS	0.378	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		38	171	38	171	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86591140	86591140	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:86591140G>A	ENST00000370571.2	-	3	1245	c.879C>T	c.(877-879)atC>atT	p.I293I	COL24A1_ENST00000436319.1_Silent_p.I293I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	293			I -> T (in dbSNP:rs17128866).		extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.I293I(2)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CATTTTTTATGATATTTGGAA	0.388																																						uc001dlj.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(877-879)ATC>ATT		collagen, type XXIV, alpha 1 precursor							111.0	104.0	106.0					1																	86591140		1834	4101	5935	SO:0001819	synonymous_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86591140G>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.879C>T	1.37:g.86591140G>A						COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Silent_p.I293I	p.I293I	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	921	-			293					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	ENST00000370571.2	37	c.879C>T	CCDS41353.1																																																																																				PASS	0.388	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		35	186	35	186	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86591631	86591631	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:86591631T>C	ENST00000370571.2	-	3	754	c.388A>G	c.(388-390)Aga>Gga	p.R130G	COL24A1_ENST00000436319.1_Missense_Mutation_p.R130G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	130					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.R130G(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AATTGCAGTCTATTTTTATTT	0.368																																						uc001dlj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(388-390)AGA>GGA		collagen, type XXIV, alpha 1 precursor							54.0	51.0	52.0					1																	86591631		1831	4091	5922	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86591631T>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.388A>G	1.37:g.86591631T>C	ENSP00000359603:p.Arg130Gly					COL24A1_uc010osd.1_Translation_Start_Site|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.R130G	p.R130G	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	430	-			130			TSP N-terminal.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.388A>G	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	T	10.99	1.506410	0.26949	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.01854	4.6;4.6	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.43416	D	0.000562	T	0.04182	0.0116	L	0.61036	1.89	0.46131	D	0.998886	D;P	0.63046	0.992;0.942	P;P	0.57101	0.813;0.76	T	0.55328	-0.8158	10	0.32370	T	0.25	.	15.3471	0.74346	0.0:0.0:0.0:1.0	.	130;130	F8WDM8;Q17RW2	.;COOA1_HUMAN	G	130	ENSP00000359603:R130G;ENSP00000392531:R130G	ENSP00000359603:R130G	R	-	1	2	COL24A1	86364219	0.999000	0.42202	1.000000	0.80357	0.933000	0.57130	3.900000	0.56295	2.220000	0.72140	0.533000	0.62120	AGA		PASS	0.368	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		23	100	23	100	---	---	---	---
ABCD3	5825	broad.mit.edu	37	1	94930375	94930375	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:94930375C>T	ENST00000370214.4	+	3	216	c.192C>T	c.(190-192)ttC>ttT	p.F64F	ABCD3_ENST00000315713.5_Silent_p.F64F|ABCD3_ENST00000394233.2_Silent_p.F64F|ABCD3_ENST00000454898.2_Silent_p.F88F|ABCD3_ENST00000536817.1_5'UTR	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	64	Interaction with PEX19.|Targeting to peroxisomes.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.F64F(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AGGTGTTTTTCTCAAGGCTCA	0.343																																						uc001dqn.3																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(190-192)TTC>TTT		ATP-binding cassette, sub-family D, member 3							127.0	126.0	127.0					1																	94930375		2203	4300	6503	SO:0001819	synonymous_variant	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94930375C>T	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.192C>T	1.37:g.94930375C>T						ABCD3_uc001dqm.3_Silent_p.F64F|ABCD3_uc010oto.1_Silent_p.F88F|ABCD3_uc010otp.1_5'UTR|ABCD3_uc009wdr.2_Silent_p.F64F	p.F64F	NM_002858	NP_002849	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	3	294	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	64			Targeting to peroxisomes.|Interaction with PEX19.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP	ENST00000370214.4	37	c.192C>T	CCDS749.1																																																																																				PASS	0.343	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		29	154	29	154	---	---	---	---
PTBP2	58155	broad.mit.edu	37	1	97270493	97270493	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:97270493G>C	ENST00000426398.2	+	9	1085	c.1042G>C	c.(1042-1044)Gag>Cag	p.E348Q	PTBP2_ENST00000394184.3_Missense_Mutation_p.E364Q|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Missense_Mutation_p.E353Q|PTBP2_ENST00000609116.1_Missense_Mutation_p.E348Q|PTBP2_ENST00000541987.1_Missense_Mutation_p.E317Q|PTBP2_ENST00000370197.1_Missense_Mutation_p.E353Q	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	348	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E348Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TTTAAATGAAGAGGTTAGTAA	0.398																																						uc001drq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1042-1044)GAG>CAG		polypyrimidine tract binding protein 2							62.0	68.0	66.0					1																	97270493		2203	4300	6503	SO:0001583	missense	58155						nucleotide binding	g.chr1:97270493G>C	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.1042G>C	1.37:g.97270493G>C	ENSP00000412788:p.Glu348Gln					PTBP2_uc001drn.2_Missense_Mutation_p.E353Q|PTBP2_uc001dro.2_Missense_Mutation_p.E348Q|PTBP2_uc010otz.1_Missense_Mutation_p.E364Q|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.E296Q|PTBP2_uc001drr.2_Missense_Mutation_p.E353Q|PTBP2_uc010oua.1_Missense_Mutation_p.E356Q|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_5'UTR|PTBP2_uc001drt.2_5'UTR	p.E348Q	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	9	1288	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	348			RRM 3.		Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	c.1042G>C	CCDS754.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740162	0.69304	.	.	ENSG00000117569	ENST00000236228;ENST00000543738;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184;ENST00000541987;ENST00000394176	T;T;T;T;T;T	0.80909	0.78;0.7;0.71;0.77;0.71;-1.43	5.62	5.62	0.85841	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.092670	0.64402	D	0.000001	D	0.84397	0.5463	L	0.45581	1.43	0.80722	D	1	B;P;P;B;B;B	0.50066	0.024;0.886;0.931;0.014;0.004;0.024	B;P;D;B;B;B	0.66196	0.113;0.877;0.942;0.064;0.135;0.095	T	0.82997	-0.0179	10	0.44086	T	0.13	-3.6035	19.6559	0.95842	0.0:0.0:1.0:0.0	.	356;364;353;348;348;353	B4DSU5;B4DSS8;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3	.;.;.;PTBP2_HUMAN;.;.	Q	348;20;353;353;348;364;317;343	ENSP00000236228:E348Q;ENSP00000359217:E353Q;ENSP00000359216:E353Q;ENSP00000412788:E348Q;ENSP00000377738:E364Q;ENSP00000442475:E317Q	ENSP00000236228:E348Q	E	+	1	0	PTBP2	97043081	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.048000	0.93830	2.652000	0.90054	0.591000	0.81541	GAG		PASS	0.398	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			18	64	18	64	---	---	---	---
AGL	178	broad.mit.edu	37	1	100379264	100379264	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:100379264C>T	ENST00000294724.4	+	30	4609	c.4131C>T	c.(4129-4131)ctC>ctT	p.L1377L	AGL_ENST00000370165.3_Silent_p.L1377L|AGL_ENST00000361522.4_Silent_p.L1360L|AGL_ENST00000361915.3_Silent_p.L1377L|AGL_ENST00000370163.3_Silent_p.L1377L|AGL_ENST00000361302.3_Silent_p.L1361L|AGL_ENST00000370161.2_Silent_p.L1361L	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1377					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.L1377L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ACTATCAGCTCAGGCCTAATT	0.373																																						uc001dsi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(4129-4131)CTC>CTT		amylo-1,6-glucosidase,							158.0	146.0	150.0					1																	100379264		2203	4300	6503	SO:0001819	synonymous_variant	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100379264C>T	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.4131C>T	1.37:g.100379264C>T						AGL_uc001dsj.1_Silent_p.L1377L|AGL_uc001dsk.1_Silent_p.L1377L|AGL_uc001dsl.1_Silent_p.L1377L|AGL_uc001dsm.1_Silent_p.L1361L|AGL_uc001dsn.1_Silent_p.L1360L	p.L1377L	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	30	4531	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1377			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Silent	SNP	ENST00000294724.4	37	c.4131C>T	CCDS759.1																																																																																				PASS	0.373	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		57	224	57	224	---	---	---	---
DPH5	51611	broad.mit.edu	37	1	101487267	101487267	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:101487267C>G	ENST00000370109.3	-	3	302	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q	DPH5_ENST00000342173.7_Missense_Mutation_p.E64Q|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Missense_Mutation_p.E64Q	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	64					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)	p.E64Q(1)		endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TTATCTGCTTCTTGTTCCACT	0.363																																						uc001dts.2																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)GAA>CAA		diphthine synthase isoform a							164.0	154.0	157.0					1																	101487267		1860	4117	5977	SO:0001583	missense	51611				peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity	g.chr1:101487267C>G	AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.190G>C	1.37:g.101487267C>G	ENSP00000359127:p.Glu64Gln					DPH5_uc001dtr.2_Missense_Mutation_p.E64Q|DPH5_uc001dtq.2_RNA|DPH5_uc001dtt.2_Missense_Mutation_p.E64Q|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Missense_Mutation_p.E64Q|DPH5_uc001dty.2_5'UTR|DPH5_uc001dtz.2_RNA	p.E64Q	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)	3	337	-		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	64					A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Missense_Mutation	SNP	ENST00000370109.3	37	c.190G>C	CCDS41358.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.721082	0.30503	.	.	ENSG00000117543	ENST00000370109;ENST00000434818;ENST00000422396;ENST00000342173;ENST00000488176	.	.	.	6.02	3.98	0.46160	Tetrapyrrole methylase (2);Tetrapyrrole methylase, subdomain 1 (1);	0.295045	0.41605	N	0.000842	T	0.23249	0.0562	L	0.28115	0.83	0.80722	D	1	B;B;B	0.14012	0.009;0.002;0.005	B;B;B	0.15870	0.008;0.008;0.014	T	0.05767	-1.0865	9	0.22706	T	0.39	-19.8337	10.3871	0.44148	0.0:0.7899:0.131:0.0791	.	64;64;64	Q9H2P9-5;Q9H2P9;A8JZY6	.;DPH5_HUMAN;.	Q	64	.	ENSP00000339630:E64Q	E	-	1	0	DPH5	101259855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.385000	0.44371	0.722000	0.32252	0.655000	0.94253	GAA		PASS	0.363	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		27	113	27	113	---	---	---	---
S1PR1	1901	broad.mit.edu	37	1	101704702	101704702	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:101704702C>T	ENST00000305352.6	+	2	537	c.162C>T	c.(160-162)ctC>ctT	p.L54L	S1PR1_ENST00000475821.1_3'UTR|RP4-575N6.4_ENST00000432195.1_RNA	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	54					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.L54L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TGTTCATTCTCATCTGCTGCT	0.438											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001dud.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(160-162)CTC>CTT		sphingosine-1-phosphate receptor 1							152.0	145.0	147.0					1																	101704702		2203	4300	6503	SO:0001819	synonymous_variant	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101704702C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.162C>T	1.37:g.101704702C>T			OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	S1PR1_uc009weg.2_Silent_p.L54L	p.L54L	NM_001400	NP_001391	P21453	S1PR1_HUMAN			2	676	+			54			Helical; Name=1; (By similarity).		D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	ENST00000305352.6	37	c.162C>T	CCDS777.1																																																																																				PASS	0.438	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		39	147	39	147	---	---	---	---
OLFM3	118427	broad.mit.edu	37	1	102290775	102290775	+	Silent	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:102290775G>T	ENST00000338858.5	-	4	458	c.459C>A	c.(457-459)ctC>ctA	p.L153L	OLFM3_ENST00000370103.4_Silent_p.L133L|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000359814.3_Silent_p.L153L|OLFM3_ENST00000536598.1_Silent_p.L58L			Q96PB7	NOE3_HUMAN	olfactomedin 3	153					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.L133L(1)|p.L153L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TCAAAGGCAGGAGCTCGTCCA	0.418																																						uc001duf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(457-459)CTC>CTA		olfactomedin 3							78.0	76.0	77.0					1																	102290775		2203	4300	6503	SO:0001819	synonymous_variant	118427					extracellular region		g.chr1:102290775G>T	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.459C>A	1.37:g.102290775G>T						OLFM3_uc001dug.2_Silent_p.L133L|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Silent_p.L58L|OLFM3_uc001due.2_RNA	p.L153L	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	4	530	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	153			Potential.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Silent	SNP	ENST00000338858.5	37	c.459C>A																																																																																					PASS	0.418	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			11	58	11	58	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103427758	103427758	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:103427758C>T	ENST00000370096.3	-	40	3400	c.3088G>A	c.(3088-3090)Ggg>Agg	p.G1030R	COL11A1_ENST00000512756.1_Missense_Mutation_p.G914R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G991R|COL11A1_ENST00000358392.2_Missense_Mutation_p.G1042R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1030	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1042R(1)|p.G1030R(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTCTTTCCCCTGGGAAACCA	0.378																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3088-3090)GGG>AGG		alpha 1 type XI collagen isoform A							85.0	89.0	87.0					1																	103427758		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103427758C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3088G>A	1.37:g.103427758C>T	ENSP00000359114:p.Gly1030Arg					COL11A1_uc001duk.2_Missense_Mutation_p.G226R|COL11A1_uc001dum.2_Missense_Mutation_p.G1042R|COL11A1_uc001dun.2_Missense_Mutation_p.G991R|COL11A1_uc009weh.2_Missense_Mutation_p.G914R	p.G1030R	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	40	3406	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1030			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3088G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216405	0.79352	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.99866	0.9937	H	0.98883	4.36	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;0.999	D	0.96442	0.9327	10	0.87932	D	0	.	19.3413	0.94342	0.0:1.0:0.0:0.0	.	914;991;1042;1030;250	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	R	1030;1042;991;250;914	ENSP00000359114:G1030R;ENSP00000351163:G1042R;ENSP00000302551:G991R;ENSP00000426533:G914R	ENSP00000302551:G991R	G	-	1	0	COL11A1	103200346	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.475000	0.81041	2.556000	0.86216	0.557000	0.71058	GGG		PASS	0.378	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		27	119	27	119	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103477982	103477982	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:103477982C>G	ENST00000370096.3	-	14	1928	c.1616G>C	c.(1615-1617)aGa>aCa	p.R539T	COL11A1_ENST00000512756.1_Missense_Mutation_p.R423T|COL11A1_ENST00000353414.4_Missense_Mutation_p.R500T|COL11A1_ENST00000358392.2_Missense_Mutation_p.R551T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	539	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.R539I(2)|p.R551I(2)|p.R539T(1)|p.R551T(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGACCTGGTCTTCCAGTTAG	0.398																																						uc001dul.2																			6	Substitution - Missense(6)		lung(6)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1615-1617)AGA>ACA		alpha 1 type XI collagen isoform A							42.0	43.0	43.0					1																	103477982		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103477982C>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1616G>C	1.37:g.103477982C>G	ENSP00000359114:p.Arg539Thr					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.R551T|COL11A1_uc001dun.2_Missense_Mutation_p.R500T|COL11A1_uc009weh.2_Missense_Mutation_p.R423T	p.R539T	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	14	1934	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	539			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1616G>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827158	0.71143	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-2.2	5.94	5.94	0.96194	.	0.122706	0.64402	D	0.000014	D	0.93635	0.7967	N	0.25789	0.76	0.80722	D	1	D;D;D;D	0.67145	0.991;0.989;0.996;0.991	D;D;D;D	0.78314	0.991;0.985;0.99;0.991	D	0.93276	0.6656	10	0.45353	T	0.12	.	19.9503	0.97197	0.0:1.0:0.0:0.0	.	423;500;551;539	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	T	539;551;500;423;551	ENSP00000359114:R539T;ENSP00000351163:R551T;ENSP00000302551:R500T;ENSP00000426533:R423T;ENSP00000408640:R551T	ENSP00000302551:R500T	R	-	2	0	COL11A1	103250570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.192000	0.77771	2.812000	0.96745	0.557000	0.71058	AGA		PASS	0.398	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		3	91	3	91	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103483430	103483430	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:103483430C>A	ENST00000370096.3	-	11	1671	c.1359G>T	c.(1357-1359)atG>atT	p.M453I	COL11A1_ENST00000512756.1_Missense_Mutation_p.M337I|COL11A1_ENST00000353414.4_Missense_Mutation_p.M414I|COL11A1_ENST00000358392.2_Missense_Mutation_p.M465I	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	453	Collagen-like 1.|Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.M465I(2)|p.M453I(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGAGGACCCATAATACCCT	0.413																																						uc001dul.2																			4	Substitution - Missense(4)		lung(4)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1357-1359)ATG>ATT		alpha 1 type XI collagen isoform A							99.0	102.0	101.0					1																	103483430		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103483430C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1359G>T	1.37:g.103483430C>A	ENSP00000359114:p.Met453Ile					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.M465I|COL11A1_uc001dun.2_Missense_Mutation_p.M414I|COL11A1_uc009weh.2_Missense_Mutation_p.M337I	p.M453I	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	11	1677	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	453			Triple-helical region (interrupted).		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1359G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005099	0.35415	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23	5.38	4.46	0.54185	.	0.149333	0.64402	D	0.000007	T	0.75686	0.3883	N	0.11201	0.11	0.48762	D	0.999705	B;B;B;B	0.20780	0.048;0.039;0.039;0.048	B;B;B;B	0.23018	0.029;0.017;0.025;0.043	T	0.72304	-0.4333	10	0.30854	T	0.27	.	6.4891	0.22105	0.162:0.701:0.0:0.137	.	337;414;465;453	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	I	453;465;414;337;465	ENSP00000359114:M453I;ENSP00000351163:M465I;ENSP00000302551:M414I;ENSP00000426533:M337I;ENSP00000408640:M465I	ENSP00000302551:M414I	M	-	3	0	COL11A1	103256018	0.999000	0.42202	1.000000	0.80357	0.975000	0.68041	0.451000	0.21779	2.673000	0.90976	0.650000	0.86243	ATG		PASS	0.413	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		46	221	46	221	---	---	---	---
GPR61	83873	broad.mit.edu	37	1	110085670	110085670	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:110085670C>T	ENST00000527748.1	+	2	709	c.26C>T	c.(25-27)tCa>tTa	p.S9L	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.S9L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		ATCCCCCAGTCATCAGGGAAC	0.632																																						uc001dxy.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(25-27)TCA>TTA		G protein-coupled receptor 61							46.0	49.0	48.0					1																	110085670		2203	4300	6503	SO:0001583	missense	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110085670C>T	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.26C>T	1.37:g.110085670C>T	ENSP00000432456:p.Ser9Leu						p.S9L	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	709	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	9			Extracellular (Potential).		A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	c.26C>T	CCDS801.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379894	0.42207	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.69685	-0.42	4.92	4.92	0.64577	.	0.458295	0.19522	N	0.112246	T	0.30603	0.0770	N	0.03608	-0.345	0.38906	D	0.957429	B	0.09022	0.002	B	0.10450	0.005	T	0.29640	-1.0005	10	0.66056	D	0.02	-3.7953	13.9526	0.64129	0.0:0.8028:0.1972:0.0	.	9	Q9BZJ8	GPR61_HUMAN	L	9;137	ENSP00000432456:S9L	ENSP00000286603:S137L	S	+	2	0	GPR61	109887193	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.701000	0.47094	2.552000	0.86080	0.561000	0.74099	TCA		PASS	0.632	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			11	41	11	41	---	---	---	---
CHIA	27159	broad.mit.edu	37	1	111861204	111861204	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:111861204G>C	ENST00000369740.1	+	9	922	c.819G>C	c.(817-819)ctG>ctC	p.L273L	CHIA_ENST00000430615.1_Silent_p.L165L|CHIA_ENST00000451398.2_Silent_p.L112L|CHIA_ENST00000343320.6_Silent_p.L273L|CHIA_ENST00000353665.6_Silent_p.L112L|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000483391.1_Silent_p.L112L	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	273					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.L273L(1)|p.L165L(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		ACTTCATCCTGAGCAACCCCT	0.527																																						uc001eas.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(817-819)CTG>CTC		acidic chitinase isoform c							162.0	151.0	155.0					1																	111861204		2203	4300	6503	SO:0001819	synonymous_variant	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111861204G>C	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.819G>C	1.37:g.111861204G>C						CHIA_uc001ear.2_Silent_p.L165L|CHIA_uc001eaq.2_Silent_p.L165L|CHIA_uc009wgc.2_Silent_p.L165L|CHIA_uc001eat.2_Silent_p.L112L|CHIA_uc001eav.2_Silent_p.L112L|CHIA_uc001eau.2_Silent_p.L112L|CHIA_uc009wgd.2_Silent_p.L112L	p.L273L	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	9	922	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	273					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Silent	SNP	ENST00000369740.1	37	c.819G>C	CCDS41368.1																																																																																				PASS	0.527	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			45	210	45	210	---	---	---	---
RSBN1	54665	broad.mit.edu	37	1	114308953	114308953	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:114308953G>C	ENST00000261441.5	-	7	2121	c.2058C>G	c.(2056-2058)ttC>ttG	p.F686L	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	686						nucleus (GO:0005634)		p.F686L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAACTGTTTTGAACTGATGAA	0.423																																						uc001edq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2056-2058)TTC>TTG		round spermatid basic protein 1							114.0	106.0	108.0					1																	114308953		2203	4300	6503	SO:0001583	missense	54665					nucleus		g.chr1:114308953G>C	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2058C>G	1.37:g.114308953G>C	ENSP00000261441:p.Phe686Leu					RSBN1_uc001edr.2_RNA	p.F686L	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	2094	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	686					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	c.2058C>G	CCDS862.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.583769	0.65992	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.56	2.66	0.31614	.	0.052115	0.85682	D	0.000000	T	0.47266	0.1436	M	0.77616	2.38	0.58432	D	0.999996	B	0.32101	0.356	B	0.29598	0.104	T	0.57952	-0.7722	9	0.87932	D	0	-7.7578	11.7112	0.51626	0.2023:0.0:0.7977:0.0	.	686	Q5VWQ0	RSBN1_HUMAN	L	686	.	ENSP00000261441:F686L	F	-	3	2	RSBN1	114110476	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.650000	0.67944	0.828000	0.34709	-0.244000	0.11960	TTC		PASS	0.423	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		48	213	48	213	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118609430	118609430	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:118609430C>T	ENST00000336338.5	-	18	2543	c.2478G>A	c.(2476-2478)atG>atA	p.M826I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	826						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.M826I(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTTGTCTATTCATTGGATTGT	0.358																																						uc001ehk.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(2476-2478)ATG>ATA		sperm associated antigen 17							133.0	121.0	125.0					1																	118609430		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118609430C>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2478G>A	1.37:g.118609430C>T	ENSP00000337804:p.Met826Ile						p.M826I	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	18	2546	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	826					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.2478G>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190067	0.58017	.	.	ENSG00000155761	ENST00000336338	T	0.38240	1.15	5.44	5.44	0.79542	.	0.037572	0.85682	D	0.000000	T	0.51007	0.1649	L	0.57536	1.79	0.36557	D	0.872205	D	0.71674	0.998	D	0.78314	0.991	T	0.52873	-0.8517	10	0.56958	D	0.05	.	19.2572	0.93951	0.0:1.0:0.0:0.0	.	826	Q6Q759	SPG17_HUMAN	I	826	ENSP00000337804:M826I	ENSP00000337804:M826I	M	-	3	0	SPAG17	118410953	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.502000	0.66956	2.543000	0.85770	0.650000	0.86243	ATG		PASS	0.358	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		28	134	28	134	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144915496	144915496	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:144915496C>G	ENST00000369354.3	-	14	2118	c.1929G>C	c.(1927-1929)atG>atC	p.M643I	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.M643I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.M643I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.M780I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.M709I|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.M430I|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.M806I|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.M806I|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.M780I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.M643I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	643				M -> V (in Ref. 4; CAD91152). {ECO:0000305}.	cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.M643I(2)|p.M806I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTGAATCTCCATTTCATGTT	0.468			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		3	Substitution - Missense(3)		lung(3)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(1927-1929)ATG>ATC		phosphodiesterase 4D interacting protein isoform							318.0	290.0	299.0					1																	144915496		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144915496C>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1929G>C	1.37:g.144915496C>G	ENSP00000358360:p.Met643Ile					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.M709I|PDE4DIP_uc001emc.1_Missense_Mutation_p.M643I|PDE4DIP_uc001emd.1_Missense_Mutation_p.M643I|PDE4DIP_uc001emb.1_Missense_Mutation_p.M806I|PDE4DIP_uc001eme.1_Missense_Mutation_p.M172I|PDE4DIP_uc001emf.1_Missense_Mutation_p.M428I	p.M643I	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	14	2220	-			643	M -> V (in Ref. 4; CAD91152).		Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.1929G>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	9.408	1.079765	0.20309	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.63913	4.74;4.83;4.83;4.84;4.84;3.83;3.84;2.74;2.74;-0.07	5.2	2.02	0.26589	.	.	.	.	.	T	0.18341	0.0440	N	0.08118	0	0.80722	D	1	B;B;B;B;B;B	0.12630	0.0;0.0;0.0;0.0;0.006;0.0	B;B;B;B;B;B	0.10450	0.0;0.001;0.0;0.001;0.005;0.0	T	0.11616	-1.0580	9	0.35671	T	0.21	.	3.6217	0.08099	0.0:0.5109:0.1909:0.2982	.	806;430;643;806;709;643	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	I	709;643;643;806;780;780;643;643;806;806;430	ENSP00000327209:M709I;ENSP00000358360:M643I;ENSP00000358363:M643I;ENSP00000435654:M780I;ENSP00000358366:M780I;ENSP00000358357:M643I;ENSP00000358355:M643I;ENSP00000316434:M806I;ENSP00000433392:M806I;ENSP00000436791:M430I	ENSP00000327209:M709I	M	-	3	0	PDE4DIP	143626853	0.232000	0.23762	0.999000	0.59377	0.976000	0.68499	0.007000	0.13174	1.279000	0.44446	0.650000	0.86243	ATG		PASS	0.468	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		56	624	56	624	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145104002	145104002	+	RNA	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:145104002G>A	ENST00000453618.1	+	0	497							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TTGGAAGCAGGAGCCATGACT	0.368																																						uc001eml.1																			0					0						c.(169-171)GGA>GAA		SEC22 vesicle trafficking protein homolog B							68.0	64.0	65.0					1																	145104002		1938	4151	6089			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145104002G>A	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145104002G>A						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	p.G57E	NM_004892	NP_004883	O75396	SC22B_HUMAN			4	310	+			57			Longin.|Cytoplasmic (Potential).		A8K1G0	Missense_Mutation	SNP	ENST00000453618.1	37	c.170G>A																																																																																					PASS	0.368	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		7	39	7	39	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145536083	145536083	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:145536083G>C	ENST00000369304.3	+	17	2350	c.2175G>C	c.(2173-2175)cgG>cgC	p.R725R	ITGA10_ENST00000538811.1_Silent_p.R594R|ITGA10_ENST00000539363.1_Silent_p.R582R	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	725			R -> Q (in dbSNP:rs2274616).		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.R725R(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTCCCCTCGGAGGCTCCGGC	0.557																																						uc001eoa.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(2173-2175)CGG>CGC		integrin, alpha 10 precursor							102.0	94.0	97.0					1																	145536083		2203	4300	6503	SO:0001819	synonymous_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145536083G>C	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2175G>C	1.37:g.145536083G>C						NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.R594R|ITGA10_uc009wiw.2_Silent_p.R582R|ITGA10_uc010oyw.1_Silent_p.R670R	p.R725R	NM_003637	NP_003628	O75578	ITA10_HUMAN			17	2251	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		725			Extracellular (Potential).		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	ENST00000369304.3	37	c.2175G>C	CCDS918.1																																																																																				PASS	0.557	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		43	165	43	165	---	---	---	---
RNF115	27246	broad.mit.edu	37	1	145650499	145650499	+	Missense_Mutation	SNP	G	G	A	rs186281231	byFrequency	TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:145650499G>A	ENST00000369291.5	+	3	382	c.178G>A	c.(178-180)Ggc>Agc	p.G60S		NM_014455.2	NP_055270.1			ring finger protein 115									p.G60S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						AGGTGGTGGCGGCAGTCGGAT	0.403													G|||	2	0.000399361	0.0	0.0029	5008	,	,		18075	0.0		0.0	False		,,,				2504	0.0					uc001eoj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(178-180)GGC>AGC		Rabring 7							121.0	115.0	117.0					1																	145650499		2203	4300	6503	SO:0001583	missense	27246				protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:145650499G>A	AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"""RING-type (C3HC4) zinc fingers"""	18154	protein-coding gene	gene with protein product			"""zinc finger protein 364"""	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.178G>A	1.37:g.145650499G>A	ENSP00000358297:p.Gly60Ser					NBPF10_uc001emp.3_Intron|RNF115_uc001eok.2_Missense_Mutation_p.G27S|RNF115_uc009wiy.2_5'UTR	p.G60S	NM_014455	NP_055270	Q9Y4L5	RN115_HUMAN			3	382	+			60						Missense_Mutation	SNP	ENST00000369291.5	37	c.178G>A	CCDS922.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	0.154	-1.088203	0.01873	.	.	ENSG00000121848	ENST00000369291	T	0.10668	2.85	5.1	1.15	0.20763	.	0.588552	0.16629	N	0.206148	T	0.02380	0.0073	L	0.36672	1.1	0.39955	D	0.974582	B	0.15141	0.012	B	0.06405	0.002	T	0.38607	-0.9653	10	0.18710	T	0.47	-3.8129	6.9727	0.24658	0.3787:0.0:0.6213:0.0	.	60	Q9Y4L5	RN115_HUMAN	S	60	ENSP00000358297:G60S	ENSP00000358297:G60S	G	+	1	0	RNF115	144361856	0.031000	0.19500	0.729000	0.30791	0.408000	0.30992	0.148000	0.16224	0.053000	0.16036	-0.794000	0.03295	GGC		PASS	0.403	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2	NM_014455		20	99	20	99	---	---	---	---
NBPF20	100288142	broad.mit.edu	37	1	148344675	148344675	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:148344675C>T	ENST00000369202.1	-	3	440	c.243G>A	c.(241-243)aaG>aaA	p.K81K	NBPF20_ENST00000414710.2_Silent_p.K81K			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	81						cytoplasm (GO:0005737)		p.K81K(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						GCTCTGCAAGCTTCTCCTCCT	0.527																																						uc001eqf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(241-243)AAG>AAA		hypothetical protein LOC55672							142.0	144.0	144.0					1																	148344675		1349	3105	4454	SO:0001819	synonymous_variant	200030					cytoplasm		g.chr1:148344675C>T		CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.243G>A	1.37:g.148344675C>T						LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqg.2_Intron|NBPF14_uc009wkf.1_Intron|uc001erd.3_Silent_p.K81K|uc001erc.3_Intron|uc010paj.1_Intron|uc010pau.1_5'Flank|uc010pav.1_Silent_p.K81K|uc010paw.1_Intron	p.K81K	NM_017940	NP_060410	Q86T75	NBPFB_HUMAN			2	278	-			81			Potential.			Silent	SNP	ENST00000369202.1	37	c.243G>A																																																																																					PASS	0.527	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000100689.2			8	458	8	458	---	---	---	---
NBPF20	100288142	broad.mit.edu	37	1	148346684	148346684	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:148346684G>A	ENST00000369202.1	-	2	270	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF20_ENST00000414710.2_Missense_Mutation_p.R25C			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	25						cytoplasm (GO:0005737)		p.R25C(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						AACTGGGGGCGCAATTTCTCG	0.507																																						uc001eqf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(73-75)CGC>TGC		hypothetical protein LOC55672							49.0	57.0	54.0					1																	148346684		2125	4271	6396	SO:0001583	missense	200030					cytoplasm		g.chr1:148346684G>A		CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.73C>T	1.37:g.148346684G>A	ENSP00000358203:p.Arg25Cys					LOC200030_uc001eqe.2_5'UTR|LOC200030_uc001eqg.2_5'UTR|NBPF14_uc009wkf.1_RNA|uc001erd.3_Missense_Mutation_p.R25C|uc001erc.3_RNA|uc010paj.1_5'UTR|uc010pav.1_Missense_Mutation_p.R25C|uc010paw.1_5'UTR	p.R25C	NM_017940	NP_060410	Q86T75	NBPFB_HUMAN			1	108	-			25						Missense_Mutation	SNP	ENST00000369202.1	37	c.73C>T		.	.	.	.	.	.	.	.	.	.	.	5.006	0.186830	0.09547	.	.	ENSG00000203832	ENST00000369202;ENST00000369188;ENST00000414710	T;T;T	0.04917	3.85;3.91;3.53	0.521	0.521	0.17046	.	.	.	.	.	T	0.05044	0.0135	.	.	.	0.23751	N	0.996944	D;B	0.56521	0.976;0.024	P;B	0.52066	0.689;0.012	T	0.34925	-0.9809	6	0.48119	T	0.1	.	.	.	.	.	25;25	Q6P3W6;F5H1Q5	NBPFA_HUMAN;.	C	25	ENSP00000358203:R25C;ENSP00000358189:R25C;ENSP00000389520:R25C	ENSP00000358189:R25C	R	-	1	0	NBPF20	146713308	0.005000	0.15991	0.001000	0.08648	0.003000	0.03518	1.201000	0.32259	0.529000	0.28599	0.184000	0.17185	CGC		PASS	0.507	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000100689.2			6	450	6	450	---	---	---	---
HIST2H2AC	8338	broad.mit.edu	37	1	149858795	149858795	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:149858795G>C	ENST00000331380.2	+	1	271	c.271G>C	c.(271-273)Gac>Cac	p.D91H	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	91						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D91H(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CATCCGCAACGACGAGGAACT	0.597																																						uc001etd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(271-273)GAC>CAC		histone cluster 2, H2ac							67.0	68.0	68.0					1																	149858795		2203	4296	6499	SO:0001583	missense	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858795G>C	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.271G>C	1.37:g.149858795G>C	ENSP00000332194:p.Asp91His					HIST2H2BE_uc001etc.2_5'Flank	p.D91H	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	271	+	Breast(34;0.0124)|all_hematologic(923;0.127)		91					Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	c.271G>C	CCDS937.1	.	.	.	.	.	.	.	.	.	.	G	9.078	0.998686	0.19121	.	.	ENSG00000184260	ENST00000331380	T	0.70749	-0.51	5.56	2.71	0.32032	Histone-fold (2);Histone core (1);Histone H2A (1);	0.000000	0.46758	D	0.000261	D	0.86514	0.5951	H	0.98818	4.34	0.37187	D	0.90375	D	0.89917	1.0	D	0.91635	0.999	D	0.88240	0.2909	10	0.87932	D	0	.	9.9885	0.41856	0.2101:0.0:0.7899:0.0	.	91	Q16777	H2A2C_HUMAN	H	91	ENSP00000332194:D91H	ENSP00000332194:D91H	D	+	1	0	HIST2H2AC	148125419	1.000000	0.71417	0.996000	0.52242	0.112000	0.19704	6.544000	0.73878	0.325000	0.23359	-0.136000	0.14681	GAC		PASS	0.597	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		18	112	18	112	---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150529462	150529462	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:150529462C>T	ENST00000369038.2	+	9	1998	c.1797C>T	c.(1795-1797)atC>atT	p.I599I	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Silent_p.I599I|ADAMTSL4_ENST00000369039.5_Silent_p.I622I|ADAMTSL4_ENST00000271643.4_Silent_p.I599I			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	599					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)	p.I599I(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AGTATGTCATCTCTTCACCTC	0.537																																						uc001eux.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1795-1797)ATC>ATT		thrombospondin repeat containing 1 isoform 1							192.0	219.0	210.0					1																	150529462		2203	4300	6503	SO:0001819	synonymous_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150529462C>T	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1797C>T	1.37:g.150529462C>T						ADAMTSL4_uc001euw.2_Silent_p.I599I|ADAMTSL4_uc009wlw.2_Silent_p.I622I|ADAMTSL4_uc010pcg.1_Intron|ADAMTSL4_uc009wlx.2_5'Flank	p.I599I	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		11	2033	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		599					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	ENST00000369038.2	37	c.1797C>T	CCDS955.1																																																																																				PASS	0.537	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		26	644	26	644	---	---	---	---
CTSS	1520	broad.mit.edu	37	1	150727603	150727603	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:150727603C>G	ENST00000368985.3	-	4	533	c.273G>C	c.(271-273)ttG>ttC	p.L91F	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Intron	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	91					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.L91F(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			GGGAACTCATCAAAGACATCA	0.408																																						uc001evn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(271-273)TTG>TTC		cathepsin S preproprotein							161.0	154.0	156.0					1																	150727603		2203	4300	6503	SO:0001583	missense	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150727603C>G	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.273G>C	1.37:g.150727603C>G	ENSP00000357981:p.Leu91Phe					CTSS_uc010pcj.1_Intron|CTSS_uc001evo.1_Missense_Mutation_p.L91F	p.L91F	NM_004079	NP_004070	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		4	406	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		91					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	37	c.273G>C	CCDS968.1	.	.	.	.	.	.	.	.	.	.	C	7.559	0.664351	0.14710	.	.	ENSG00000163131	ENST00000368985	T	0.24908	1.83	5.28	4.37	0.52481	.	1.095640	0.06822	N	0.792324	T	0.06462	0.0166	N	0.24115	0.695	0.43385	D	0.995493	B	0.10296	0.003	B	0.09377	0.004	T	0.33574	-0.9863	10	0.12430	T	0.62	.	8.1778	0.31292	0.0:0.8184:0.0:0.1816	.	91	P25774	CATS_HUMAN	F	91	ENSP00000357981:L91F	ENSP00000357981:L91F	L	-	3	2	CTSS	148994227	0.042000	0.20092	0.508000	0.27688	0.888000	0.51559	0.153000	0.16323	1.233000	0.43693	0.591000	0.81541	TTG		PASS	0.408	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		15	335	15	335	---	---	---	---
CGN	57530	broad.mit.edu	37	1	151501993	151501993	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:151501993G>C	ENST00000271636.7	+	11	2197	c.2064G>C	c.(2062-2064)aaG>aaC	p.K688N	SNORA44_ENST00000517031.1_RNA	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	682	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)	p.K688N(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCTACAAAAGACCCTCCAGC	0.622																																						uc009wmw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2062-2064)AAG>AAC		cingulin							34.0	32.0	33.0					1																	151501993		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151501993G>C	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.2064G>C	1.37:g.151501993G>C	ENSP00000271636:p.Lys688Asn						p.K688N	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		11	2208	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		682			Glu-rich.|Potential.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.2064G>C	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738059	0.69304	.	.	ENSG00000143375	ENST00000271636	T	0.68765	-0.35	4.43	2.54	0.30619	.	0.344683	0.30483	N	0.009528	T	0.57066	0.2028	M	0.68317	2.08	0.31338	N	0.684018	D	0.57257	0.979	P	0.52554	0.702	T	0.58086	-0.7698	10	0.87932	D	0	-41.5758	6.9586	0.24585	0.2099:0.0:0.7901:0.0	.	682	Q9P2M7	CING_HUMAN	N	688	ENSP00000271636:K688N	ENSP00000271636:K688N	K	+	3	2	CGN	149768617	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	0.779000	0.26746	0.615000	0.30124	0.655000	0.94253	AAG		PASS	0.622	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		5	39	5	39	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152285429	152285429	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:152285429G>C	ENST00000368799.1	-	3	1968	c.1933C>G	c.(1933-1935)Cat>Gat	p.H645D	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	645	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H645D(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCATGATGGTTTCTGGAA	0.557									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(1933-1935)CAT>GAT		filaggrin							221.0	229.0	226.0					1																	152285429		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285429G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1933C>G	1.37:g.152285429G>C	ENSP00000357789:p.His645Asp					uc001ezv.2_5'Flank	p.H645D	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1969	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		645			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1933C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	8.477	0.858918	0.17178	.	.	ENSG00000143631	ENST00000368799	T	0.02216	4.39	3.79	1.83	0.25207	.	.	.	.	.	T	0.02047	0.0064	M	0.67953	2.075	0.09310	N	1	P	0.50156	0.932	P	0.58520	0.84	T	0.41124	-0.9526	9	0.13108	T	0.6	.	6.1614	0.20366	0.242:0.0:0.758:0.0	.	645	P20930	FILA_HUMAN	D	645	ENSP00000357789:H645D	ENSP00000357789:H645D	H	-	1	0	FLG	150552053	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.433000	0.21477	0.367000	0.24454	0.650000	0.86243	CAT		PASS	0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		270	480	270	480	---	---	---	---
CRNN	49860	broad.mit.edu	37	1	152383036	152383036	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:152383036C>G	ENST00000271835.3	-	3	584	c.522G>C	c.(520-522)caG>caC	p.Q174H	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	174	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.Q174H(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCCTGGCTCTGGGACTCAG	0.577																																						uc001ezx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(520-522)CAG>CAC		cornulin							152.0	166.0	161.0					1																	152383036		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152383036C>G	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.522G>C	1.37:g.152383036C>G	ENSP00000271835:p.Gln174His						p.Q174H	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	596	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		174			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.522G>C	CCDS1010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.41|10.41	1.341931|1.341931	0.24339|0.24339	.|.	.|.	ENSG00000143536|ENSG00000143536	ENST00000271835|ENST00000451038	T|.	0.05139|.	3.49|.	4.57|4.57	1.53|1.53	0.23141|0.23141	.|.	0.431784|.	0.19700|.	N|.	0.108076|.	T|T	0.24699|0.24699	0.0599|0.0599	M|M	0.64170|0.64170	1.965|1.965	0.09310|0.09310	N|N	1|1	B|.	0.25521|.	0.128|.	B|.	0.23275|.	0.045|.	T|T	0.24693|0.24693	-1.0153|-1.0153	10|6	0.72032|0.45353	D|T	0.01|0.12	.|.	4.5616|4.5616	0.12163|0.12163	0.0:0.6089:0.1843:0.2068|0.0:0.6089:0.1843:0.2068	.|.	174|.	Q9UBG3|.	CRNN_HUMAN|.	H|T	174|137	ENSP00000271835:Q174H|.	ENSP00000271835:Q174H|ENSP00000402565:R137T	Q|R	-|-	3|2	2|0	CRNN|CRNN	150649660|150649660	0.379000|0.379000	0.25123|0.25123	0.018000|0.018000	0.16275|0.16275	0.018000|0.018000	0.09664|0.09664	0.519000|0.519000	0.22862|0.22862	0.512000|0.512000	0.28257|0.28257	0.460000|0.460000	0.39030|0.39030	CAG|AGA		PASS	0.577	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		128	522	128	522	---	---	---	---
NPR1	4881	broad.mit.edu	37	1	153652175	153652175	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:153652175C>T	ENST00000368680.3	+	1	1063	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	197					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)	p.F197F(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AGCACTGCTTCTTCCTCGTGG	0.662																																					Pancreas(141;1349 1870 15144 15830 40702)	uc001fcs.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|stomach(1)|breast(1)	7						c.(589-591)TTC>TTT		natriuretic peptide receptor 1 precursor	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						19.0	18.0	18.0					1																	153652175		2190	4282	6472	SO:0001819	synonymous_variant	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153652175C>T	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.591C>T	1.37:g.153652175C>T						NPR1_uc010pdz.1_5'Flank	p.F197F	NM_000906	NP_000897	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		1	1012	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		197			Extracellular (Potential).		B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	ENST00000368680.3	37	c.591C>T	CCDS1051.1																																																																																				PASS	0.662	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		11	21	11	21	---	---	---	---
INTS3	65123	broad.mit.edu	37	1	153736693	153736693	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:153736693G>A	ENST00000318967.2	+	18	2489	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	INTS3_ENST00000456435.1_Missense_Mutation_p.E435K|INTS3_ENST00000512605.1_Missense_Mutation_p.E435K|INTS3_ENST00000435409.2_Missense_Mutation_p.E641K|INTS3_ENST00000476843.1_3'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	642					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)		p.E641K(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGAGATTACTGAGGAGTAAGG	0.537																																						uc009wom.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1921-1923)GAG>AAG		integrator complex subunit 3							87.0	83.0	84.0					1																	153736693		2203	4300	6503	SO:0001583	missense	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153736693G>A	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1921G>A	1.37:g.153736693G>A	ENSP00000318641:p.Glu641Lys					INTS3_uc001fct.2_Missense_Mutation_p.E641K|INTS3_uc001fcu.2_Missense_Mutation_p.E333K|INTS3_uc001fcv.2_Missense_Mutation_p.E435K|INTS3_uc010peb.1_Missense_Mutation_p.E435K|INTS3_uc001fcw.2_Missense_Mutation_p.E154K|INTS3_uc010pec.1_Missense_Mutation_p.E154K|INTS3_uc001fcy.2_5'Flank|INTS3_uc001fcx.2_5'Flank	p.E641K	NM_023015	NP_075391	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		19	2142	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		642					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	c.1921G>A	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524821	0.85600	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.85	3.94	0.45596	.	0.057246	0.64402	N	0.000002	T	0.40145	0.1105	L	0.54323	1.7	0.54753	D	0.999988	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.11329	0.006;0.001;0.002	T	0.49542	-0.8929	9	0.66056	D	0.02	.	8.9316	0.35675	0.1006:0.0:0.8994:0.0	.	435;642;641	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	K	641;435;641;435	.	ENSP00000318641:E641K	E	+	1	0	INTS3	152003317	1.000000	0.71417	0.856000	0.33681	0.845000	0.48019	9.155000	0.94700	1.273000	0.44346	0.462000	0.41574	GAG		PASS	0.537	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		50	86	50	86	---	---	---	---
UBAP2L	9898	broad.mit.edu	37	1	154227363	154227363	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:154227363G>C	ENST00000361546.2	+	15	1948	c.1906G>C	c.(1906-1908)Gaa>Caa	p.E636Q	AL590431.1_ENST00000517008.1_RNA|UBAP2L_ENST00000271877.7_Missense_Mutation_p.E647Q|UBAP2L_ENST00000343815.6_Missense_Mutation_p.E636Q|UBAP2L_ENST00000428931.1_Missense_Mutation_p.E636Q			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	636					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)	p.E636Q(2)|p.E132Q(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACAATCTGTTGAAGGTGAGTG	0.408																																						uc001fep.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(1906-1908)GAA>CAA		ubiquitin associated protein 2-like isoform a							161.0	158.0	159.0					1																	154227363		2203	4300	6503	SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154227363G>C	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1906G>C	1.37:g.154227363G>C	ENSP00000355343:p.Glu636Gln					UBAP2L_uc009wot.2_Missense_Mutation_p.E636Q|UBAP2L_uc010pek.1_Missense_Mutation_p.E628Q|UBAP2L_uc010pel.1_Missense_Mutation_p.E646Q|UBAP2L_uc010pen.1_Missense_Mutation_p.E550Q|UBAP2L_uc001feq.2_5'Flank|UBAP2L_uc001fer.2_5'Flank	p.E636Q	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		16	2073	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		636					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.1906G>C	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726681	0.69074	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.12774	2.67;2.67;2.65;2.67	5.84	5.84	0.93424	.	0.464011	0.23773	N	0.044709	T	0.17789	0.0427	N	0.22421	0.69	0.58432	D	0.999994	D;P;D;D;D	0.67145	0.993;0.908;0.996;0.996;0.993	D;B;D;D;D	0.75484	0.968;0.394;0.986;0.986;0.979	T	0.04128	-1.0975	10	0.40728	T	0.16	-7.0779	19.1272	0.93390	0.0:0.0:1.0:0.0	.	550;647;629;636;636	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	Q	636;636;132;132;647;636	ENSP00000345308:E636Q;ENSP00000389445:E636Q;ENSP00000271877:E647Q;ENSP00000355343:E636Q	ENSP00000271877:E647Q	E	+	1	0	UBAP2L	152493987	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.203000	0.89739	2.764000	0.94973	0.655000	0.94253	GAA		PASS	0.408	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		18	169	18	169	---	---	---	---
RUSC1	23623	broad.mit.edu	37	1	155292628	155292628	+	Nonsense_Mutation	SNP	C	C	A	rs199994966	byFrequency	TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:155292628C>A	ENST00000368352.5	+	2	1215	c.1064C>A	c.(1063-1065)tCg>tAg	p.S355*	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Nonsense_Mutation_p.S355*|RUSC1_ENST00000292254.4_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368349.4_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	355					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)	p.S355*(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CTCCCCCCCTCGGGGTCGCCG	0.701																																						uc001fkj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1063-1065)TCG>TAG		RUN and SH3 domain containing 1 isoform a							16.0	19.0	18.0					1																	155292628		1790	4040	5830	SO:0001587	stop_gained	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155292628C>A	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1064C>A	1.37:g.155292628C>A	ENSP00000357336:p.Ser355*					RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Nonsense_Mutation_p.S355*|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank|RUSC1_uc001fks.2_5'Flank	p.S355*	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	1293	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		355					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Nonsense_Mutation	SNP	ENST00000368352.5	37	c.1064C>A	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.371135	0.61624	.	.	ENSG00000160753	ENST00000368354;ENST00000368352	.	.	.	4.25	-0.394	0.12434	.	1.726370	0.03446	N	0.209944	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-0.0218	6.1513	0.20313	0.0:0.3008:0.4987:0.2005	.	.	.	.	X	355	.	ENSP00000357336:S355X	S	+	2	0	RUSC1	153559252	0.000000	0.05858	0.000000	0.03702	0.246000	0.25737	0.635000	0.24629	0.068000	0.16574	0.485000	0.47835	TCG		PASS	0.701	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			14	39	14	39	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155449335	155449335	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:155449335G>T	ENST00000368346.3	-	3	3965	c.3326C>A	c.(3325-3327)tCt>tAt	p.S1109Y	ASH1L_ENST00000392403.3_Missense_Mutation_p.S1109Y			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1109					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.S1109Y(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGAAGACTGAGAGCAAATAGG	0.473																																						uc009wqq.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(3325-3327)TCT>TAT		absent, small, or homeotic 1-like							78.0	74.0	75.0					1																	155449335		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155449335G>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3326C>A	1.37:g.155449335G>T	ENSP00000357330:p.Ser1109Tyr					ASH1L_uc001fkt.2_Missense_Mutation_p.S1109Y|ASH1L_uc009wqr.1_Missense_Mutation_p.S1109Y	p.S1109Y	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	3806	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1109					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.3326C>A		.	.	.	.	.	.	.	.	.	.	G	15.47	2.843219	0.51057	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.93133	-3.17;-3.17	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.91888	0.7432	N	0.24115	0.695	0.80722	D	1	D;D	0.64830	0.989;0.994	P;D	0.65010	0.854;0.931	D	0.93354	0.6721	10	0.87932	D	0	.	13.947	0.64091	0.0:0.1521:0.8479:0.0	.	1109;1109	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	Y	1109	ENSP00000357330:S1109Y;ENSP00000376204:S1109Y	ENSP00000357330:S1109Y	S	-	2	0	ASH1L	153715959	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.508000	0.81686	2.645000	0.89757	0.591000	0.81541	TCT		PASS	0.473	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		23	159	23	159	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156626090	156626090	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:156626090C>T	ENST00000329117.5	+	9	2295	c.1959C>T	c.(1957-1959)agC>agT	p.S653S	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	653	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.S653S(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGTCCCCAGCCCCTGCCACA	0.642																																						uc001fpp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1957-1959)AGC>AGT		brevican isoform 1							67.0	60.0	63.0					1																	156626090		2203	4300	6503	SO:0001819	synonymous_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156626090C>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1959C>T	1.37:g.156626090C>T							p.S653S	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			9	2295	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		653			EGF-like.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	37	c.1959C>T	CCDS1149.1																																																																																				PASS	0.642	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		23	179	23	179	---	---	---	---
NES	10763	broad.mit.edu	37	1	156641855	156641855	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:156641855C>G	ENST00000368223.3	-	4	2257	c.2125G>C	c.(2125-2127)Gag>Cag	p.E709Q		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	709	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.E709Q(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)					CTAAAGGCCTCTTTGTTCTCA	0.468																																						uc001fpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(2125-2127)GAG>CAG		nestin							78.0	76.0	77.0					1																	156641855		2203	4300	6503	SO:0001583	missense	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.chr1:156641855C>G	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.2125G>C	1.37:g.156641855C>G	ENSP00000357206:p.Glu709Gln						p.E709Q	NM_006617	NP_006608	P48681	NEST_HUMAN			4	2258	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		709			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.2125G>C	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776303	0.31411	.	.	ENSG00000132688	ENST00000368223	D	0.85955	-2.05	5.21	4.3	0.51218	.	0.234015	0.22044	N	0.065417	T	0.63745	0.2537	L	0.40543	1.245	0.09310	N	1	B	0.27229	0.172	B	0.25614	0.062	T	0.58940	-0.7547	10	0.59425	D	0.04	.	6.6782	0.23106	0.1762:0.7325:0.0:0.0912	.	709	P48681	NEST_HUMAN	Q	709	ENSP00000357206:E709Q	ENSP00000357206:E709Q	E	-	1	0	NES	154908479	0.027000	0.19231	0.032000	0.17829	0.279000	0.26890	1.240000	0.32731	1.178000	0.42870	0.563000	0.77884	GAG		PASS	0.468	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		10	271	10	271	---	---	---	---
NES	10763	broad.mit.edu	37	1	156642404	156642404	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:156642404C>G	ENST00000368223.3	-	4	1708	c.1576G>C	c.(1576-1578)Gaa>Caa	p.E526Q		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	526	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.E526Q(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)					AGATCCTCTTCTTCCCATATT	0.488																																						uc001fpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(1576-1578)GAA>CAA		nestin							98.0	98.0	98.0					1																	156642404		2203	4300	6503	SO:0001583	missense	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.chr1:156642404C>G	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.1576G>C	1.37:g.156642404C>G	ENSP00000357206:p.Glu526Gln						p.E526Q	NM_006617	NP_006608	P48681	NEST_HUMAN			4	1709	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		526			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.1576G>C	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	9.702	1.154856	0.21371	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.88201	-2.35	5.27	3.38	0.38709	.	0.503050	0.14867	N	0.293748	T	0.68924	0.3054	L	0.38531	1.155	0.09310	N	0.999999	B	0.13594	0.008	B	0.12837	0.008	T	0.61589	-0.7032	10	0.56958	D	0.05	.	3.6405	0.08165	0.1751:0.5664:0.1689:0.0897	.	526	P48681	NEST_HUMAN	Q	526	ENSP00000357206:E526Q	ENSP00000255024:E526Q	E	-	1	0	NES	154909028	.	.	0.016000	0.15963	0.004000	0.04260	.	.	1.223000	0.43536	-0.481000	0.04817	GAA		PASS	0.488	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		15	384	15	384	---	---	---	---
ISG20L2	81875	broad.mit.edu	37	1	156694046	156694046	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:156694046C>T	ENST00000313146.6	-	2	1624	c.842G>A	c.(841-843)cGt>cAt	p.R281H	ISG20L2_ENST00000472824.2_5'UTR|ISG20L2_ENST00000368219.1_Missense_Mutation_p.R281H	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	281	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)	p.R281H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAGGTGTCACGGGTGAGGGA	0.542																																						uc001fps.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(841-843)CGT>CAT		interferon stimulated exonuclease gene							93.0	97.0	96.0					1																	156694046		2203	4300	6503	SO:0001583	missense	81875				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	g.chr1:156694046C>T	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.842G>A	1.37:g.156694046C>T	ENSP00000323424:p.Arg281His					ISG20L2_uc001fpt.1_Missense_Mutation_p.R281H	p.R281H	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN			2	1103	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		281			Exonuclease.		D3DVC6|Q64KA2	Missense_Mutation	SNP	ENST00000313146.6	37	c.842G>A	CCDS1153.1	.	.	.	.	.	.	.	.	.	.	C	35	5.491853	0.96339	.	.	ENSG00000143319	ENST00000313146;ENST00000368219	T;T	0.20881	2.04;2.04	5.73	5.73	0.89815	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.128194	0.51477	D	0.000083	T	0.52821	0.1758	M	0.94101	3.495	0.58432	D	0.999998	D	0.89917	1.0	D	0.72982	0.979	T	0.64829	-0.6315	10	0.72032	D	0.01	.	18.4663	0.90757	0.0:1.0:0.0:0.0	.	281	Q9H9L3	I20L2_HUMAN	H	281	ENSP00000323424:R281H;ENSP00000357202:R281H	ENSP00000323424:R281H	R	-	2	0	ISG20L2	154960670	1.000000	0.71417	0.976000	0.42696	0.999000	0.98932	7.390000	0.79816	2.722000	0.93159	0.655000	0.94253	CGT		PASS	0.542	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		9	205	9	205	---	---	---	---
SH2D2A	9047	broad.mit.edu	37	1	156779563	156779563	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:156779563C>G	ENST00000368199.3	-	6	757	c.604G>C	c.(604-606)Gaa>Caa	p.E202Q	SH2D2A_ENST00000368198.3_Missense_Mutation_p.E184Q|SH2D2A_ENST00000392306.2_Missense_Mutation_p.E212Q	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	202	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)	p.E202Q(1)|p.E202*(1)|p.E212Q(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGTTTGATTCTTCGGTCCTC	0.587																																						uc001fqd.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(2)|large_intestine(1)		0						c.(604-606)GAA>CAA		SH2 domain protein 2A isoform 2							143.0	135.0	137.0					1																	156779563		2203	4300	6503	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156779563C>G	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.604G>C	1.37:g.156779563C>G	ENSP00000357182:p.Glu202Gln					SH2D2A_uc001fqc.1_Missense_Mutation_p.E174Q|SH2D2A_uc009wsh.2_Missense_Mutation_p.E212Q|SH2D2A_uc001fqe.2_Missense_Mutation_p.E184Q|SH2D2A_uc010phs.1_Missense_Mutation_p.E202Q	p.E202Q	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN			6	744	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		202			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.604G>C	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	C	3.303	-0.142426	0.06669	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.56275	0.48;0.47;0.9	3.76	1.77	0.24775	.	3.070300	0.00760	N	0.001128	T	0.14227	0.0344	N	0.24115	0.695	0.09310	N	1	P;B;B	0.41265	0.744;0.396;0.261	B;B;B	0.35353	0.201;0.069;0.069	T	0.05370	-1.0889	10	0.15499	T	0.54	-0.0061	5.0318	0.14413	0.0:0.6621:0.2155:0.1224	.	212;184;202	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	Q	202;184;212	ENSP00000357182:E202Q;ENSP00000357181:E184Q;ENSP00000376123:E212Q	ENSP00000357181:E184Q	E	-	1	0	SH2D2A	155046187	0.359000	0.24955	0.050000	0.19076	0.079000	0.17450	0.510000	0.22723	0.332000	0.23536	0.555000	0.69702	GAA		PASS	0.587	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		120	312	120	312	---	---	---	---
FCRL3	115352	broad.mit.edu	37	1	157648534	157648534	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:157648534T>A	ENST00000368184.3	-	15	2462	c.2171A>T	c.(2170-2172)aAt>aTt	p.N724I	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Splice_Site_p.N724I	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	724						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N724I(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ACGTGGTACATTCTCATAGTT	0.502																																						uc001frb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(2170-2172)AAT>ATT		Fc receptor-like 3 precursor							187.0	163.0	171.0					1																	157648534		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157648534T>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.2171A>T	1.37:g.157648534T>A	ENSP00000357167:p.Asn724Ile					FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.N724I|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.N450I|FCRL3_uc001frc.1_Missense_Mutation_p.N724I	p.N724I	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			15	2463	-	all_hematologic(112;0.0378)		724			ITIM motif 4.|Cytoplasmic (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.2171A>T	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.294511	0.60086	.	.	ENSG00000160856	ENST00000368186;ENST00000368184	T;T	0.59638	0.26;0.25	3.55	3.55	0.40652	.	.	.	.	.	T	0.61299	0.2336	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;0.987;1.0	D;P;D	0.91635	0.997;0.748;0.999	T	0.65545	-0.6142	9	0.87932	D	0	.	8.784	0.34809	0.0:0.0:0.0:1.0	.	724;629;724	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	I	724	ENSP00000357169:N724I;ENSP00000357167:N724I	ENSP00000357167:N724I	N	-	2	0	FCRL3	155915158	0.997000	0.39634	0.938000	0.37757	0.020000	0.10135	1.415000	0.34748	1.825000	0.53177	0.533000	0.62120	AAT		PASS	0.502	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		30	240	30	240	---	---	---	---
KIRREL	55243	broad.mit.edu	37	1	158064513	158064513	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:158064513G>A	ENST00000359209.6	+	15	1944	c.1877G>A	c.(1876-1878)cGt>cAt	p.R626H	KIRREL_ENST00000416935.2_Missense_Mutation_p.R526H|KIRREL_ENST00000360089.4_Missense_Mutation_p.R462H|KIRREL_ENST00000392272.2_Missense_Mutation_p.R523H|KIRREL_ENST00000368172.1_Missense_Mutation_p.R440H|KIRREL_ENST00000368173.3_Missense_Mutation_p.R642H			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	626					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.R462H(1)|p.R626H(1)|p.R642H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCTGACTACCGTGCCCCTGGC	0.647																																						uc001frn.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1876-1878)CGT>CAT		kin of IRRE like precursor							51.0	56.0	54.0					1																	158064513		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158064513G>A	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1877G>A	1.37:g.158064513G>A	ENSP00000352138:p.Arg626His					KIRREL_uc010pib.1_Missense_Mutation_p.R526H|KIRREL_uc009wsq.2_Missense_Mutation_p.R462H|KIRREL_uc001fro.3_Missense_Mutation_p.R440H|uc001frp.2_5'Flank	p.R626H	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			15	2281	+	all_hematologic(112;0.0378)		626			Cytoplasmic (Potential).		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1877G>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870720	0.91587	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.71698	0.33;-0.59;0.0;-0.19;-0.14;0.19	4.38	4.38	0.52667	.	0.000000	0.41500	D	0.000865	T	0.74504	0.3725	L	0.46157	1.445	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	P;D;D;P	0.83275	0.869;0.996;0.994;0.828	T	0.77702	-0.2489	10	0.66056	D	0.02	-8.5158	14.4805	0.67579	0.0:0.0:1.0:0.0	.	526;462;440;626	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	H	462;642;523;626;526;440	ENSP00000353202:R462H;ENSP00000357155:R642H;ENSP00000376098:R523H;ENSP00000352138:R626H;ENSP00000389674:R526H;ENSP00000357154:R440H	ENSP00000352138:R626H	R	+	2	0	KIRREL	156331137	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	4.792000	0.62467	2.255000	0.74692	0.462000	0.41574	CGT		PASS	0.647	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		8	108	8	108	---	---	---	---
OR10X1	128367	broad.mit.edu	37	1	158549092	158549092	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:158549092C>G	ENST00000368150.1	-	1	597	c.598G>C	c.(598-600)Gtt>Ctt	p.V200L		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V200L(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGCCTAATAACTGCCAGCATA	0.443																																						uc010pin.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(598-600)GTT>CTT		olfactory receptor, family 10, subfamily X,							82.0	82.0	82.0					1																	158549092		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549092C>G	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.598G>C	1.37:g.158549092C>G	ENSP00000357132:p.Val200Leu						p.V200L	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			1	598	-	all_hematologic(112;0.0378)		200			Extracellular (Potential).		Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.598G>C	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	C	6.435	0.448412	0.12223	.	.	ENSG00000186400	ENST00000368150	T	0.00099	8.73	4.8	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	D	0.000500	T	0.00039	0.0001	N	0.03324	-0.35	0.09310	N	1	P	0.39443	0.674	P	0.45428	0.48	T	0.00001	-1.2742	10	0.15952	T	0.53	.	4.615	0.12422	0.2551:0.5791:0.0:0.1657	.	200	Q8NGY0	O10X1_HUMAN	L	200	ENSP00000357132:V200L	ENSP00000357132:V200L	V	-	1	0	OR10X1	156815716	0.000000	0.05858	0.077000	0.20336	0.255000	0.26057	-0.404000	0.07205	0.599000	0.29845	0.557000	0.71058	GTT		PASS	0.443	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		9	162	9	162	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158655095	158655095	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:158655095C>G	ENST00000368147.4	-	2	247	c.67G>C	c.(67-69)Gag>Cag	p.E23Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	23					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.E23Q(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCTGGATCTCTTCTGCTGTT	0.463																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(67-69)GAG>CAG		spectrin, alpha, erythrocytic 1							146.0	144.0	144.0					1																	158655095		1888	4117	6005	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158655095C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.67G>C	1.37:g.158655095C>G	ENSP00000357129:p.Glu23Gln						p.E23Q	NM_003126	NP_003117	P02549	SPTA1_HUMAN			2	266	-	all_hematologic(112;0.0378)		23			Spectrin 1.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.67G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664508	0.88251	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.35421	1.31;1.31	4.98	4.98	0.66077	.	0.000000	0.32608	N	0.005863	T	0.27027	0.0662	L	0.45581	1.43	0.46131	D	0.99888	B	0.26876	0.162	B	0.35931	0.214	T	0.08493	-1.0719	10	0.44086	T	0.13	.	17.0071	0.86396	0.0:1.0:0.0:0.0	.	23	P02549	SPTA1_HUMAN	Q	23	ENSP00000357130:E23Q;ENSP00000357129:E23Q	ENSP00000357129:E23Q	E	-	1	0	SPTA1	156921719	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.375000	0.66173	2.594000	0.87642	0.467000	0.42956	GAG		PASS	0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		44	243	44	243	---	---	---	---
OR6K2	81448	broad.mit.edu	37	1	158669950	158669950	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:158669950G>T	ENST00000359610.2	-	1	536	c.493C>A	c.(493-495)Ctg>Atg	p.L165M		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L165M(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CAAAATGGCAGTGTAGAGATC	0.488																																						uc001fsu.1																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(493-495)CTG>ATG		olfactory receptor, family 6, subfamily K,							119.0	105.0	110.0					1																	158669950		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669950G>T	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.493C>A	1.37:g.158669950G>T	ENSP00000352626:p.Leu165Met						p.L165M	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	493	-	all_hematologic(112;0.0378)		165			Extracellular (Potential).		B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.493C>A	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.871061	0.33069	.	.	ENSG00000196171	ENST00000359610	T	0.00293	8.26	5.08	2.23	0.28157	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32918	N	0.005485	T	0.00241	0.0007	M	0.87971	2.92	0.09310	N	0.99999	D	0.71674	0.998	D	0.66084	0.941	T	0.44050	-0.9353	10	0.41790	T	0.15	-4.1373	6.0866	0.19970	0.2356:0.137:0.6274:0.0	.	165	Q8NGY2	OR6K2_HUMAN	M	165	ENSP00000352626:L165M	ENSP00000352626:L165M	L	-	1	2	OR6K2	156936574	0.008000	0.16893	0.922000	0.36590	0.825000	0.46686	0.384000	0.20668	0.318000	0.23185	-0.145000	0.13849	CTG		PASS	0.488	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		76	143	76	143	---	---	---	---
OR6N1	128372	broad.mit.edu	37	1	158735813	158735813	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:158735813C>A	ENST00000335094.2	-	1	679	c.660G>T	c.(658-660)caG>caT	p.Q220H		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q220H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TGCAGATGATCTGCACATAGG	0.488																																						uc010piq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(658-660)CAG>CAT		olfactory receptor, family 6, subfamily N,							124.0	123.0	124.0					1																	158735813		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735813C>A	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.660G>T	1.37:g.158735813C>A	ENSP00000335535:p.Gln220His						p.Q220H	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			1	660	-	all_hematologic(112;0.0378)		220			Cytoplasmic (Potential).		Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.660G>T	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	C	0.685	-0.796884	0.02862	.	.	ENSG00000197403	ENST00000335094	T	0.00193	8.58	4.89	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.505886	0.16703	N	0.203022	T	0.00039	0.0001	N	0.02120	-0.675	0.19300	N	0.999973	P	0.51147	0.942	P	0.54544	0.755	T	0.00534	-1.1684	10	0.17369	T	0.5	-0.8142	5.1021	0.14764	0.1363:0.3408:0.4404:0.0826	.	220	Q8NGY5	OR6N1_HUMAN	H	220	ENSP00000335535:Q220H	ENSP00000335535:Q220H	Q	-	3	2	OR6N1	157002437	0.000000	0.05858	0.349000	0.25694	0.008000	0.06430	-1.494000	0.02296	0.206000	0.20587	-0.211000	0.12701	CAG		PASS	0.488	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		14	318	14	318	---	---	---	---
IGSF8	93185	broad.mit.edu	37	1	160064893	160064893	+	Missense_Mutation	SNP	C	C	T	rs144014563	byFrequency	TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:160064893C>T	ENST00000368086.1	-	2	424	c.208G>A	c.(208-210)Gag>Aag	p.E70K	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.E70K			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	70	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E70K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCTGGGGCCTCGGGCCTATAC	0.587																																						uc001fva.2																			1	Substitution - Missense(1)		lung(1)		0						c.(208-210)GAG>AAG		immunoglobulin superfamily, member 8		C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	68.0	67.0	67.0		208,208	5.4	0.9	1	dbSNP_134	67	4,8596	3.0+/-9.4	0,4,4296	no	missense,missense	IGSF8	NM_001206665.2,NM_052868.4	56,56	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging,probably-damaging	70/614,70/614	160064893	4,13002	2203	4300	6503	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160064893C>T	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.208G>A	1.37:g.160064893C>T	ENSP00000357065:p.Glu70Lys					IGSF8_uc001fuz.2_Missense_Mutation_p.E70K|IGSF8_uc009wtf.2_Missense_Mutation_p.E70K	p.E70K	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		2	253	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		70			Ig-like C2-type 1.|Extracellular (Potential).		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.208G>A	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380002	0.42207	0.0	4.65E-4	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.64803	-0.12;-0.12;-0.12	5.36	5.36	0.76844	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.222920	0.35772	N	0.002989	T	0.33323	0.0859	N	0.19112	0.55	0.38154	D	0.938823	D	0.59357	0.985	P	0.44860	0.462	T	0.35699	-0.9778	10	0.06757	T	0.87	-16.8098	17.8546	0.88759	0.0:1.0:0.0:0.0	.	70	Q969P0	IGSF8_HUMAN	K	70	ENSP00000316664:E70K;ENSP00000357065:E70K;ENSP00000397464:E70K	ENSP00000316664:E70K	E	-	1	0	IGSF8	158331517	0.998000	0.40836	0.942000	0.38095	0.230000	0.25150	3.788000	0.55446	2.489000	0.83994	0.563000	0.77884	GAG		PASS	0.587	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		14	124	14	124	---	---	---	---
COPA	1314	broad.mit.edu	37	1	160262323	160262323	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:160262323G>C	ENST00000241704.7	-	28	3140	c.2911C>G	c.(2911-2913)Cag>Gag	p.Q971E	COPA_ENST00000368069.3_Missense_Mutation_p.Q980E	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	971					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.Q980E(1)|p.Q971E(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCAGAGCCTGATAGGTTGTG	0.507																																						uc009wti.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2911-2913)CAG>GAG		coatomer protein complex, subunit alpha isoform							170.0	156.0	161.0					1																	160262323		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160262323G>C	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2911C>G	1.37:g.160262323G>C	ENSP00000241704:p.Gln971Glu					COPA_uc001fvv.3_Missense_Mutation_p.Q980E	p.Q971E	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		28	3305	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		971					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.2911C>G	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543233	0.65198	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.42900	0.96;0.96	6.17	6.17	0.99709	Coatomer, alpha subunit, C-terminal (1);	0.056855	0.64402	D	0.000001	T	0.11879	0.0289	N	0.02011	-0.69	0.54753	D	0.999988	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.11275	-1.0594	10	0.33940	T	0.23	-19.6943	19.4432	0.94831	0.0:0.0:1.0:0.0	.	971;980	P53621;P53621-2	COPA_HUMAN;.	E	980;971	ENSP00000357048:Q980E;ENSP00000241704:Q971E	ENSP00000241704:Q971E	Q	-	1	0	COPA	158528947	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.546000	0.98097	2.941000	0.99782	0.655000	0.94253	CAG		PASS	0.507	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		31	245	31	245	---	---	---	---
COPA	1314	broad.mit.edu	37	1	160281683	160281683	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:160281683C>A	ENST00000241704.7	-	11	1280	c.1051G>T	c.(1051-1053)Gat>Tat	p.D351Y	COPA_ENST00000368069.3_Missense_Mutation_p.D351Y	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	351					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.D351Y(2)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACAGCTACATCTTTGGAGCTG	0.473																																						uc009wti.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1051-1053)GAT>TAT		coatomer protein complex, subunit alpha isoform							123.0	104.0	110.0					1																	160281683		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160281683C>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1051G>T	1.37:g.160281683C>A	ENSP00000241704:p.Asp351Tyr					COPA_uc001fvv.3_Missense_Mutation_p.D351Y|COPA_uc009wtj.1_Missense_Mutation_p.D297Y	p.D351Y	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		11	1445	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		351					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.1051G>T	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809892	0.90707	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.64618	2.59;-0.11	5.24	5.24	0.73138	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	T	0.80633	0.4660	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.986	D	0.84959	0.0876	10	0.87932	D	0	-15.9537	17.3846	0.87413	0.0:1.0:0.0:0.0	.	351;351	P53621;P53621-2	COPA_HUMAN;.	Y	351	ENSP00000357048:D351Y;ENSP00000241704:D351Y	ENSP00000241704:D351Y	D	-	1	0	COPA	158548307	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.260000	0.78391	2.416000	0.81992	0.655000	0.94253	GAT		PASS	0.473	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		7	89	7	89	---	---	---	---
SLAMF6	114836	broad.mit.edu	37	1	160460006	160460006	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:160460006G>C	ENST00000368057.3	-	5	838	c.778C>G	c.(778-780)Cag>Gag	p.Q260E	SLAMF6_ENST00000368059.3_Missense_Mutation_p.Q260E|SLAMF6_ENST00000368055.1_Missense_Mutation_p.Q149E			Q96DU3	SLAF6_HUMAN	SLAM family member 6	260						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.Q260E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TGTGTTCGCTGAGTAGACAAA	0.488																																						uc001fwe.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(778-780)CAG>GAG		activating NK receptor precursor							116.0	122.0	120.0					1																	160460006		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160460006G>C	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.778C>G	1.37:g.160460006G>C	ENSP00000357036:p.Gln260Glu					SLAMF6_uc001fwd.1_Missense_Mutation_p.Q260E|SLAMF6_uc010pjh.1_Missense_Mutation_p.Q211E|SLAMF6_uc010pji.1_Missense_Mutation_p.Q149E|SLAMF6_uc010pjj.1_Missense_Mutation_p.Q149E	p.Q260E	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		5	838	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		260			Cytoplasmic (Potential).		A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.778C>G	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315816	0.23908	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.43294	0.95;2.97;2.28	3.56	3.56	0.40772	.	4.181680	0.00710	N	0.000821	T	0.18509	0.0444	L	0.27053	0.805	0.09310	N	0.999999	P;P;P;P;P	0.51057	0.941;0.9;0.94;0.915;0.915	P;B;P;B;B	0.46172	0.506;0.275;0.465;0.275;0.275	T	0.29731	-1.0002	10	0.09084	T	0.74	-0.2756	10.9743	0.47456	0.0:0.0:1.0:0.0	.	149;149;211;260;260	B7Z6A7;Q5TAS6;B4E1U5;Q96DU3;B2R8X8	.;.;.;SLAF6_HUMAN;.	E	260;260;149	ENSP00000357038:Q260E;ENSP00000357036:Q260E;ENSP00000357034:Q149E	ENSP00000357034:Q149E	Q	-	1	0	SLAMF6	158726630	0.003000	0.15002	0.136000	0.22124	0.006000	0.05464	0.869000	0.27996	2.298000	0.77334	0.655000	0.94253	CAG		PASS	0.488	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		7	359	7	359	---	---	---	---
USP21	27005	broad.mit.edu	37	1	161134932	161134932	+	Splice_Site	SNP	C	C	T	rs36113679		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:161134932C>T	ENST00000289865.8	+	12	1827	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C	USP21_ENST00000493054.1_3'UTR|PPOX_ENST00000367999.4_5'Flank|PPOX_ENST00000535223.1_5'Flank|PPOX_ENST00000352210.5_5'Flank|PPOX_ENST00000544598.1_5'Flank|USP21_ENST00000368001.1_Splice_Site_p.R522C|USP21_ENST00000368002.3_Splice_Site_p.R536C|PPOX_ENST00000432542.2_5'Flank	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	536	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R536C(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAATGACTCTCGGTGAGAATA	0.562																																						uc010pke.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|prostate(1)|breast(1)	5						c.(1606-1608)CGT>TGT		ubiquitin-specific protease 21							89.0	78.0	82.0					1																	161134932		2203	4300	6503	SO:0001630	splice_region_variant	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161134932C>T	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1607+1C>T	1.37:g.161134932C>T						USP21_uc010pkf.1_Missense_Mutation_p.R536C|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyn.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc001fyl.2_5'Flank|PPOX_uc001fym.2_5'Flank|PPOX_uc001fyk.2_5'Flank|PPOX_uc001fyh.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc009wuc.1_5'Flank|PPOX_uc010pkh.1_5'Flank|PPOX_uc001fyi.2_5'Flank	p.R536C	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		13	1983	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		536					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	c.1606C>T	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503798	0.44558	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.32988	1.43;1.43;1.43	5.09	5.09	0.68999	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.243878	0.42172	D	0.000755	T	0.14657	0.0354	L	0.28649	0.875	0.51767	D	0.999937	B	0.20164	0.042	B	0.12837	0.008	T	0.02288	-1.1182	10	0.45353	T	0.12	.	17.4411	0.87565	0.0:1.0:0.0:0.0	.	536	Q9UK80	UBP21_HUMAN	C	536;536;522	ENSP00000356981:R536C;ENSP00000289865:R536C;ENSP00000356980:R522C	ENSP00000289865:R536C	R	+	1	0	USP21	159401556	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.030000	0.49720	2.632000	0.89209	0.555000	0.69702	CGT		PASS	0.562	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1		Missense_Mutation	8	190	8	190	---	---	---	---
FCGR3A	2214	broad.mit.edu	37	1	161518346	161518346	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:161518346G>A	ENST00000436743.1	-	4	338	c.184C>T	c.(184-186)Cac>Tac	p.H62Y	FCGR3A_ENST00000476031.1_5'UTR|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000443193.1_Missense_Mutation_p.H97Y|FCGR3A_ENST00000367969.3_Missense_Mutation_p.H98Y|FCGR3A_ENST00000540048.1_Missense_Mutation_p.H62Y	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	62	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H98Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTCTCATTGTGAAACCACTGT	0.552																																						uc001gat.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(184-186)CAC>TAC		Fc fragment of IgG, low affinity IIIa, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						283.0	277.0	279.0					1																	161518346		2203	4300	6503	SO:0001583	missense	2214				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161518346G>A	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.184C>T	1.37:g.161518346G>A	ENSP00000416607:p.His62Tyr					FCGR3A_uc001gar.2_Missense_Mutation_p.H98Y|FCGR3A_uc001gas.2_Missense_Mutation_p.H97Y|FCGR3A_uc009wuh.2_Missense_Mutation_p.H61Y|FCGR3A_uc009wui.2_Missense_Mutation_p.H62Y	p.H62Y	NM_001127595	NP_001121067	P08637	FCG3A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	321	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		62			Ig-like C2-type 1.|Extracellular (Potential).		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	c.184C>T	CCDS44266.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906130	0.72868	.	.	ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336	T;T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68;2.68	4.43	4.43	0.53597	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000034	T	0.25082	0.0609	M	0.71920	2.185	0.32785	N	0.501934	D;D;D	0.89917	0.997;0.997;1.0	P;D;D	0.75484	0.862;0.943;0.986	T	0.01800	-1.1271	10	0.87932	D	0	.	12.7559	0.57335	0.0:0.0:1.0:0.0	.	62;97;62	P08637;E9PG94;Q9UPY7	FCG3A_HUMAN;.;.	Y	98;97;62;62;62;61	ENSP00000356946:H98Y;ENSP00000392047:H97Y;ENSP00000416607:H62Y;ENSP00000356944:H62Y;ENSP00000444971:H62Y;ENSP00000396567:H61Y	ENSP00000356944:H62Y	H	-	1	0	FCGR3A	159784970	0.966000	0.33281	0.455000	0.27031	0.105000	0.19272	2.695000	0.47043	2.455000	0.83008	0.591000	0.81541	CAC		PASS	0.552	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		11	739	11	739	---	---	---	---
ATF6	22926	broad.mit.edu	37	1	161833057	161833057	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:161833057C>T	ENST00000367942.3	+	14	1741	c.1674C>T	c.(1672-1674)gcC>gcT	p.A558A		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	558	Interaction with THBS4.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.A558A(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	TTTTTGAAGCCATCCGCAGAA	0.373																																						uc001gbr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1672-1674)GCC>GCT		activating transcription factor 6							132.0	125.0	127.0					1																	161833057		2203	4300	6503	SO:0001819	synonymous_variant	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161833057C>T	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1674C>T	1.37:g.161833057C>T						ATF6_uc001gbq.1_Silent_p.A558A	p.A558A	NM_007348	NP_031374	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		14	1741	+	all_hematologic(112;0.156)		558			Lumenal (Potential).		O15139|Q5VW62|Q6IPB5|Q9UEC9	Silent	SNP	ENST00000367942.3	37	c.1674C>T	CCDS1235.1																																																																																				PASS	0.373	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		45	322	45	322	---	---	---	---
OLFML2B	25903	broad.mit.edu	37	1	161967758	161967758	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:161967758A>G	ENST00000294794.3	-	6	1754	c.1331T>C	c.(1330-1332)aTg>aCg	p.M444T	OLFML2B_ENST00000367940.2_Missense_Mutation_p.M445T	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	444					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.M444T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CATAGCTTCCATCAATGCCTC	0.632																																						uc001gbu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1330-1332)ATG>ACG		olfactomedin-like 2B precursor							108.0	97.0	101.0					1																	161967758		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161967758A>G	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1331T>C	1.37:g.161967758A>G	ENSP00000294794:p.Met444Thr					OLFML2B_uc010pkq.1_Missense_Mutation_p.M445T	p.M444T	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		6	1755	-	all_hematologic(112;0.156)		444					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.1331T>C	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	A	0.958	-0.704190	0.03255	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.85629	-2.01;-2.01	4.25	-4.82	0.03171	.	.	.	.	.	T	0.29524	0.0736	N	0.02539	-0.55	0.22489	N	0.999058	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22382	-1.0218	8	0.07990	T	0.79	.	2.5733	0.04800	0.2172:0.1488:0.4645:0.1696	.	445;444	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	T	444;445	ENSP00000294794:M444T;ENSP00000356917:M445T	ENSP00000294794:M444T	M	-	2	0	OLFML2B	160234382	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.289000	0.08365	-0.842000	0.04195	0.260000	0.18958	ATG		PASS	0.632	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		22	202	22	202	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167086653	167086653	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:167086653C>T	ENST00000361200.2	+	4	460	c.294C>T	c.(292-294)aaC>aaT	p.N98N	DUSP27_ENST00000443333.1_Silent_p.N98N|DUSP27_ENST00000271385.5_Silent_p.N98N			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	98					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.N98N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ACCTGTACAACCGCGTCAGGG	0.597																																						uc001geb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(292-294)AAC>AAT		dual specificity phosphatase 27							81.0	60.0	67.0					1																	167086653		2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167086653C>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.294C>T	1.37:g.167086653C>T							p.N98N	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			3	294	+			98					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.294C>T	CCDS30932.1																																																																																				PASS	0.597	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		15	8	15	8	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167086707	167086707	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:167086707G>C	ENST00000361200.2	+	4	514	c.348G>C	c.(346-348)ctG>ctC	p.L116L	DUSP27_ENST00000443333.1_Silent_p.L116L|DUSP27_ENST00000271385.5_Silent_p.L116L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	116					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L116L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCTGTGTCCTGGACCTACAGC	0.572																																						uc001geb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(346-348)CTG>CTC		dual specificity phosphatase 27							81.0	61.0	68.0					1																	167086707		2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167086707G>C	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.348G>C	1.37:g.167086707G>C							p.L116L	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			3	348	+			116					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.348G>C	CCDS30932.1																																																																																				PASS	0.572	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		15	18	15	18	---	---	---	---
NME7	29922	broad.mit.edu	37	1	169204413	169204413	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:169204413C>G	ENST00000367811.3	-	9	1100	c.844G>C	c.(844-846)Gag>Cag	p.E282Q	NME7_ENST00000472647.1_Missense_Mutation_p.E246Q	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	282					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)	p.E282Q(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TAGAATTCCTCAACATTAACC	0.289																																						uc001gfu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(844-846)GAG>CAG		nucleoside diphosphate kinase 7 isoform a							52.0	49.0	50.0					1																	169204413		2191	4294	6485	SO:0001583	missense	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169204413C>G	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.844G>C	1.37:g.169204413C>G	ENSP00000356785:p.Glu282Gln					NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.E246Q	p.E282Q	NM_013330	NP_037462	Q9Y5B8	NDK7_HUMAN			9	1082	-	all_hematologic(923;0.208)		282					A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.844G>C	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500308	0.85176	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.57595	0.39;0.39	5.84	5.84	0.93424	.	0.051118	0.85682	D	0.000000	T	0.70228	0.3200	M	0.84846	2.72	0.41238	D	0.986623	D	0.63880	0.993	D	0.69142	0.962	T	0.70992	-0.4721	9	0.45353	T	0.12	-33.5668	17.0606	0.86547	0.0:1.0:0.0:0.0	.	282	Q9Y5B8	NDK7_HUMAN	Q	246;282	ENSP00000433341:E246Q;ENSP00000356785:E282Q	ENSP00000356785:E282Q	E	-	1	0	NME7	167471037	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.452000	0.66638	2.768000	0.95171	0.650000	0.86243	GAG		PASS	0.289	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330		6	71	6	71	---	---	---	---
NME7	29922	broad.mit.edu	37	1	169267888	169267888	+	Missense_Mutation	SNP	C	C	T	rs139755731		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:169267888C>T	ENST00000367811.3	-	6	810	c.554G>A	c.(553-555)cGc>cAc	p.R185H	NME7_ENST00000472647.1_Missense_Mutation_p.R149H|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	185					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)	p.R185H(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					AGCATCTGTGCGTGCCACTCC	0.453																																						uc001gfu.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	central_nervous_system(1)	1						c.(553-555)CGC>CAC		nucleoside diphosphate kinase 7 isoform a		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	100.0	100.0	100.0		554,446	5.7	1.0	1	dbSNP_134	100	0,8600		0,0,4300	no	missense,missense	NME7	NM_013330.3,NM_197972.1	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	185/377,149/341	169267888	1,13005	2203	4300	6503	SO:0001583	missense	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169267888C>T	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.554G>A	1.37:g.169267888C>T	ENSP00000356785:p.Arg185His					NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.R149H|NME7_uc001gfv.1_Missense_Mutation_p.R185H	p.R185H	NM_013330	NP_037462	Q9Y5B8	NDK7_HUMAN			6	792	-	all_hematologic(923;0.208)		185					A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.554G>A	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808780	0.70797	2.27E-4	0.0	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.77620	-1.11;-1.11	5.74	5.74	0.90152	.	0.223452	0.47093	D	0.000257	T	0.74520	0.3727	M	0.79614	2.46	0.38312	D	0.943270	B;P	0.35124	0.407;0.485	B;B	0.36186	0.219;0.149	T	0.75614	-0.3257	9	0.40728	T	0.16	-7.388	19.5303	0.95226	0.0:1.0:0.0:0.0	.	189;185	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	H	149;185	ENSP00000433341:R149H;ENSP00000356785:R185H	ENSP00000356785:R185H	R	-	2	0	NME7	167534512	0.012000	0.17670	0.989000	0.46669	0.998000	0.95712	1.247000	0.32815	2.703000	0.92315	0.643000	0.83706	CGC		PASS	0.453	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330		155	117	155	117	---	---	---	---
F5	2153	broad.mit.edu	37	1	169551757	169551757	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:169551757C>G	ENST00000367797.3	-	2	363	c.162G>C	c.(160-162)ttG>ttC	p.L54F	F5_ENST00000367796.3_Missense_Mutation_p.L54F|F5_ENST00000546081.1_Intron	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	54	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.L54F(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CAGAAAGATTCAAACTGGAAA	0.289																																						uc001ggg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(160-162)TTG>TTC		coagulation factor V precursor	Drotrecogin alfa(DB00055)						24.0	25.0	25.0					1																	169551757		2158	4242	6400	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169551757C>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.162G>C	1.37:g.169551757C>G	ENSP00000356771:p.Leu54Phe					F5_uc010plr.1_Intron	p.L54F	NM_000130	NP_000121	P12259	FA5_HUMAN			2	307	-	all_hematologic(923;0.208)		54			F5/8 type A 1.|Plastocyanin-like 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.162G>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	7.097	0.573336	0.13623	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99042	-5.36;-5.36	5.78	0.431	0.16523	Cupredoxin (2);	1.056520	0.07275	N	0.869838	D	0.89849	0.6834	N	0.11560	0.145	0.54753	D	0.999985	B	0.24533	0.105	B	0.22880	0.042	T	0.83054	-0.0151	10	0.10111	T	0.7	-0.8368	4.232	0.10608	0.1502:0.5195:0.0:0.3302	.	54	P12259	FA5_HUMAN	F	54	ENSP00000356771:L54F;ENSP00000356770:L54F	ENSP00000356770:L54F	L	-	3	2	F5	167818381	0.003000	0.15002	0.897000	0.35233	0.817000	0.46193	-0.472000	0.06623	0.384000	0.24942	0.650000	0.86243	TTG		PASS	0.289	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		4	97	4	97	---	---	---	---
SELP	6403	broad.mit.edu	37	1	169576241	169576241	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:169576241C>T	ENST00000263686.6	-	9	1502	c.1465G>A	c.(1465-1467)Gtg>Atg	p.V489M	SELP_ENST00000458599.2_Missense_Mutation_p.V427M|SELP_ENST00000367793.2_Missense_Mutation_p.V427M|SELP_ENST00000367788.2_Missense_Mutation_p.V427M|SELP_ENST00000367794.2_Missense_Mutation_p.V427M|SELP_ENST00000367786.2_Missense_Mutation_p.V427M|SELP_ENST00000367791.2_Missense_Mutation_p.V365M|SELP_ENST00000367792.2_Missense_Mutation_p.V427M	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	489	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.V489M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	CACTGTAGCACACTTGCTCCC	0.502																																						uc001ggi.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1465-1467)GTG>ATG		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						63.0	63.0	63.0					1																	169576241		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169576241C>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1465G>A	1.37:g.169576241C>T	ENSP00000263686:p.Val489Met					SELP_uc001ggh.2_Missense_Mutation_p.V324M|SELP_uc009wvr.2_Missense_Mutation_p.V489M	p.V489M	NM_003005	NP_002996	P16109	LYAM3_HUMAN			9	1530	-	all_hematologic(923;0.208)		489			Extracellular (Potential).|Sushi 5.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1465G>A	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.17|10.17	1.276487|1.276487	0.23307|0.23307	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T;T	.|0.67523	.|-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.24|5.24	-0.0201|-0.0201	0.13957|0.13957	.|Complement control module (2);Sushi/SCR/CCP (3);	.|1.562000	.|0.03560	.|N	.|0.226896	T|T	0.47210|0.47210	0.1433|0.1433	M|M	0.66297|0.66297	2.02|2.02	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.29136	.|0.146;0.146;0.234	.|B;B;B	.|0.35899	.|0.213;0.152;0.106	T|T	0.43278|0.43278	-0.9401|-0.9401	5|10	.|0.46703	.|T	.|0.11	-0.0093|-0.0093	4.9029|4.9029	0.13784|0.13784	0.0:0.5187:0.1469:0.3344|0.0:0.5187:0.1469:0.3344	.|.	.|489;489;489	.|Q6NUL9;P16109;G3V1U2	.|.;LYAM3_HUMAN;.	Y|M	426|365;489;488;427;489;489;427;427;427;365;427;427;412	.|ENSP00000263686:V489M;ENSP00000356767:V427M;ENSP00000356768:V427M;ENSP00000356766:V427M;ENSP00000356765:V365M;ENSP00000356762:V427M;ENSP00000356760:V427M	.|ENSP00000263686:V489M	C|V	-|-	2|1	0|0	SELP|SELP	167842865|167842865	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.019000|0.019000	0.09904|0.09904	-0.734000|-0.734000	0.04893|0.04893	0.031000|0.031000	0.15407|0.15407	0.650000|0.650000	0.86243|0.86243	TGT|GTG		PASS	0.502	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		85	93	85	93	---	---	---	---
SELL	6402	broad.mit.edu	37	1	169672451	169672451	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:169672451C>G	ENST00000236147.4	-	6	1096	c.936G>C	c.(934-936)aaG>aaC	p.K312N	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	299	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.K299N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					AAATGGTTTTCTTCTTCCCAA	0.423																																						uc001ggk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(895-897)AAG>AAC		selectin L precursor							99.0	89.0	92.0					1																	169672451		1885	4122	6007	SO:0001583	missense	6402				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding	g.chr1:169672451C>G	M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.936G>C	1.37:g.169672451C>G	ENSP00000236147:p.Lys312Asn					C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_Missense_Mutation_p.K252N|SELL_uc001ggl.1_Missense_Mutation_p.K312N	p.K299N	NM_000655	NP_000646	P14151	LYAM1_HUMAN			6	1095	-	all_hematologic(923;0.208)		299			Extracellular (Potential).|Sushi 2.		B2R6Q8|P15023|Q9UJ43	Missense_Mutation	SNP	ENST00000236147.4	37	c.897G>C	CCDS53427.1	.	.	.	.	.	.	.	.	.	.	C	3.160	-0.172252	0.06421	.	.	ENSG00000188404	ENST00000236147	T	0.63255	-0.03	4.59	-5.55	0.02536	Complement control module (2);Sushi/SCR/CCP (3);	1.253680	0.05526	N	0.563147	T	0.16938	0.0407	N	0.21373	0.66	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.04708	-1.0932	10	0.27082	T	0.32	-5.3839	2.7939	0.05396	0.1151:0.3123:0.113:0.4596	.	312;299	Q8WW79;P14151	.;LYAM1_HUMAN	N	312	ENSP00000236147:K312N	ENSP00000236147:K312N	K	-	3	2	SELL	167939075	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-2.711000	0.00817	-1.363000	0.02164	0.650000	0.86243	AAG		PASS	0.423	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655		59	45	59	45	---	---	---	---
PRRC2C	23215	broad.mit.edu	37	1	171504701	171504701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:171504701C>T	ENST00000338920.4	+	13	2239	c.2002C>T	c.(2002-2004)Cag>Tag	p.Q668*	PRRC2C_ENST00000367742.3_Nonsense_Mutation_p.Q670*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.Q670*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.Q668*	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	668	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.Q670*(2)									CAAACAGTTTCAGAAGTCTTT	0.433																																						uc010pmg.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(2002-2004)CAG>TAG		HBxAg transactivated protein 2							141.0	151.0	148.0					1																	171504701		2203	4300	6503	SO:0001587	stop_gained	23215						protein C-terminus binding	g.chr1:171504701C>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.2002C>T	1.37:g.171504701C>T	ENSP00000343629:p.Gln668*						p.Q668*	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			13	2268	+			668			Gln-rich.		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Nonsense_Mutation	SNP	ENST00000338920.4	37	c.2002C>T	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	42	9.446243	0.99174	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	.	.	.	5.38	5.38	0.77491	.	0.000000	0.44285	D	0.000461	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1377	0.93435	0.0:1.0:0.0:0.0	.	.	.	.	X	670;669;668;670;668;425;427	.	ENSP00000343629:Q668X	Q	+	1	0	PRRC2C	169771325	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.190000	0.77755	2.509000	0.84616	0.655000	0.94253	CAG		PASS	0.433	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		16	427	16	427	---	---	---	---
DARS2	55157	broad.mit.edu	37	1	173814391	173814391	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:173814391G>A	ENST00000361951.4	+	12	1880	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	DARS2_ENST00000239457.5_5'UTR|DARS2_ENST00000471476.1_3'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	385					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.E385K(1)		breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GAAAGACATTGAATCCATTAG	0.289																																						uc001gjh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1153-1155)GAA>AAA		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						52.0	58.0	56.0					1																	173814391		2201	4297	6498	SO:0001583	missense	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173814391G>A	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.1153G>A	1.37:g.173814391G>A	ENSP00000355086:p.Glu385Lys						p.E385K	NM_018122	NP_060592	Q6PI48	SYDM_HUMAN			12	1563	+			385						Missense_Mutation	SNP	ENST00000361951.4	37	c.1153G>A	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140436	0.77775	.	.	ENSG00000117593	ENST00000361951	D	0.82526	-1.62	5.23	5.23	0.72850	Aminoacyl-tRNA synthetase, class II (1);GAD domain (3);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.143584	0.64402	D	0.000011	D	0.83852	0.5344	M	0.76002	2.32	0.80722	D	1	P	0.48834	0.916	P	0.49085	0.6	D	0.86762	0.1967	10	0.87932	D	0	-14.5733	16.2883	0.82736	0.0:0.0:1.0:0.0	.	385	Q6PI48	SYDM_HUMAN	K	385	ENSP00000355086:E385K	ENSP00000355086:E385K	E	+	1	0	DARS2	172081014	1.000000	0.71417	0.959000	0.39883	0.688000	0.40055	4.056000	0.57448	2.445000	0.82738	0.555000	0.69702	GAA		PASS	0.289	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122		75	117	75	117	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176659276	176659276	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:176659276G>T	ENST00000367662.3	+	5	3305	c.2141G>T	c.(2140-2142)gGc>gTc	p.G714V	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G714V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	714	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G714V(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATTGCAGGTGGCATTGTCCTC	0.418																																						uc001gkz.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2140-2142)GGC>GTC		pappalysin 2 isoform 1							96.0	90.0	92.0					1																	176659276		2038	4224	6262	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176659276G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2141G>T	1.37:g.176659276G>T	ENSP00000356634:p.Gly714Val					PAPPA2_uc001gky.1_Missense_Mutation_p.G714V|PAPPA2_uc009www.2_RNA	p.G714V	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			5	3305	+			714			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2141G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252266	0.59212	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.79940	-1.32;0.32	5.23	5.23	0.72850	Peptidase M43, pregnancy-associated plasma-A (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91236	0.7238	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92693	0.6168	10	0.87932	D	0	-17.952	18.3907	0.90483	0.0:0.0:1.0:0.0	.	714;714	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	V	714	ENSP00000356634:G714V;ENSP00000356633:G714V	ENSP00000356633:G714V	G	+	2	0	PAPPA2	174925899	1.000000	0.71417	0.971000	0.41717	0.075000	0.17131	9.728000	0.98792	2.424000	0.82194	0.563000	0.77884	GGC		PASS	0.418	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			27	255	27	255	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176762710	176762710	+	Missense_Mutation	SNP	C	C	G	rs201107920	byFrequency	TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:176762710C>G	ENST00000367662.3	+	20	6199	c.5035C>G	c.(5035-5037)Cca>Gca	p.P1679A		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1679	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P1679A(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGTGTGTTCCCCATTGTGTGT	0.458																																						uc001gkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(5035-5037)CCA>GCA		pappalysin 2 isoform 1							217.0	214.0	215.0					1																	176762710		1960	4143	6103	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176762710C>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5035C>G	1.37:g.176762710C>G	ENSP00000356634:p.Pro1679Ala					PAPPA2_uc009www.2_RNA	p.P1679A	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			20	6199	+			1679			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.5035C>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	5.664	0.307083	0.10733	.	.	ENSG00000116183	ENST00000367662	T	0.01548	4.78	5.32	4.4	0.53042	.	0.122515	0.56097	D	0.000031	T	0.01870	0.0059	L	0.38175	1.15	0.33564	D	0.597779	B	0.02656	0.0	B	0.04013	0.001	T	0.21930	-1.0231	10	0.08837	T	0.75	-4.4262	13.3512	0.60603	0.0:0.8414:0.1586:0.0	.	1679	Q9BXP8	PAPP2_HUMAN	A	1679	ENSP00000356634:P1679A	ENSP00000356634:P1679A	P	+	1	0	PAPPA2	175029333	0.359000	0.24955	0.202000	0.23494	0.927000	0.56198	3.857000	0.55972	1.235000	0.43724	-0.150000	0.13652	CCA		PASS	0.458	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			9	159	9	159	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176915110	176915110	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:176915110T>C	ENST00000367654.3	-	13	2436	c.2225A>G	c.(2224-2226)aAc>aGc	p.N742S	ASTN1_ENST00000424564.2_Missense_Mutation_p.N734S|ASTN1_ENST00000361833.2_Missense_Mutation_p.N734S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.N734S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	742					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.N734S(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTTGGAATGGTTGTTGTAACC	0.488																																						uc001glc.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2200-2202)AAC>AGC		astrotactin isoform 1							123.0	126.0	125.0					1																	176915110		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176915110T>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2225A>G	1.37:g.176915110T>C	ENSP00000356626:p.Asn742Ser					ASTN1_uc001glb.1_Missense_Mutation_p.N734S|ASTN1_uc001gld.1_Missense_Mutation_p.N734S|ASTN1_uc009wwx.1_Missense_Mutation_p.N734S	p.N734S	NM_004319	NP_004310	O14525	ASTN1_HUMAN			13	2413	-			742					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2201A>G		.	.	.	.	.	.	.	.	.	.	T	23.8	4.459927	0.84317	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.19105	2.17;2.58;2.58;2.17	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.34454	0.0898	L	0.29908	0.895	0.80722	D	1	D;D;D	0.67145	0.996;0.974;0.974	D;D;D	0.73380	0.98;0.969;0.969	T	0.11591	-1.0581	10	0.66056	D	0.02	-36.6002	14.8389	0.70209	0.0:0.0:0.0:1.0	.	742;734;734	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	S	734;734;742;734;734	ENSP00000356629:N734S;ENSP00000354536:N734S;ENSP00000356626:N742S;ENSP00000395041:N734S	ENSP00000354536:N734S	N	-	2	0	ASTN1	175181733	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.433000	0.80362	1.997000	0.58415	0.533000	0.62120	AAC		PASS	0.488	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		11	300	11	300	---	---	---	---
AXDND1	126859	broad.mit.edu	37	1	179380370	179380370	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:179380370G>C	ENST00000367618.3	+	12	1586	c.1199G>C	c.(1198-1200)tGg>tCg	p.W400S	AXDND1_ENST00000457238.2_Missense_Mutation_p.W400S|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	400								p.W400S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGAGATATCTGGAGCTCAGCC	0.328																																						uc001gmo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1198-1200)TGG>TCG		hypothetical protein LOC126859 isoform 1							88.0	103.0	98.0					1																	179380370		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179380370G>C	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1199G>C	1.37:g.179380370G>C	ENSP00000356590:p.Trp400Ser					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.W188S|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.W400S	p.W400S	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			12	1326	+			400			Potential.		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1199G>C	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542061	0.65198	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.72394	0.37;-0.65;0.58	5.18	5.18	0.71444	.	0.061024	0.64402	D	0.000001	D	0.83198	0.5202	M	0.75777	2.31	0.54753	D	0.999986	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.91635	0.998;0.994;0.999	D	0.84918	0.0852	10	0.72032	D	0.01	-7.4109	14.5509	0.68065	0.0:0.0:1.0:0.0	.	358;400;400	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	S	400;358;400;334	ENSP00000356590:W400S;ENSP00000416712:W400S;ENSP00000391716:W334S	ENSP00000353471:W358S	W	+	2	0	AXDND1	177646993	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.742000	0.62103	2.552000	0.86080	0.585000	0.79938	TGG		PASS	0.328	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		32	104	32	104	---	---	---	---
LAMC1	3915	broad.mit.edu	37	1	183105618	183105618	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:183105618G>C	ENST00000258341.4	+	25	4469	c.4212G>C	c.(4210-4212)aaG>aaC	p.K1404N	RP11-181K3.4_ENST00000457852.3_RNA	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1404	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.K1404N(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CCAATGAAAAGACCAGAGAAG	0.567																																						uc001gpy.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|kidney(1)	5						c.(4210-4212)AAG>AAC		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						68.0	70.0	70.0					1																	183105618		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183105618G>C	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4212G>C	1.37:g.183105618G>C	ENSP00000258341:p.Lys1404Asn						p.K1404N	NM_002293	NP_002284	P11047	LAMC1_HUMAN			25	4469	+			1404			Potential.|Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.4212G>C	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813491	0.50527	.	.	ENSG00000135862	ENST00000258341	D	0.81579	-1.51	5.69	5.69	0.88448	.	0.043360	0.85682	D	0.000000	T	0.81380	0.4810	M	0.76002	2.32	0.80722	D	1	P	0.38250	0.624	B	0.35607	0.206	T	0.81328	-0.0982	10	0.40728	T	0.16	.	19.4071	0.94651	0.0:0.0:1.0:0.0	.	1404	P11047	LAMC1_HUMAN	N	1404	ENSP00000258341:K1404N	ENSP00000258341:K1404N	K	+	3	2	LAMC1	181372241	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	5.089000	0.64492	2.671000	0.90904	0.655000	0.94253	AAG		PASS	0.567	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		20	48	20	48	---	---	---	---
EDEM3	80267	broad.mit.edu	37	1	184690474	184690474	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:184690474C>A	ENST00000318130.8	-	9	1166	c.900G>T	c.(898-900)ttG>ttT	p.L300F	EDEM3_ENST00000367512.3_Missense_Mutation_p.L257F	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	300					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.L257F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CATAGGCTTTCAACAGATATT	0.294																																						uc010pok.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(898-900)TTG>TTT		ER degradation enhancer, mannosidase alpha-like							55.0	58.0	57.0					1																	184690474		2202	4290	6492	SO:0001583	missense	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184690474C>A	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.900G>T	1.37:g.184690474C>A	ENSP00000318147:p.Leu300Phe					EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.L300F|EDEM3_uc001gqy.2_Missense_Mutation_p.L223F	p.L300F	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN			9	1161	-			300					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	ENST00000318130.8	37	c.900G>T	CCDS1363.2	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019062	0.54576	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.74315	-0.83;-0.83	5.38	4.24	0.50183	.	0.069082	0.64402	D	0.000014	T	0.78175	0.4242	M	0.69523	2.12	0.58432	D	0.999998	P;P	0.50156	0.932;0.848	P;P	0.54924	0.58;0.764	T	0.77148	-0.2694	10	0.44086	T	0.13	.	7.07	0.25173	0.0:0.804:0.0:0.196	.	300;257	Q9BZQ6;B7ZLZ2	EDEM3_HUMAN;.	F	300;257	ENSP00000318147:L300F;ENSP00000356482:L257F	ENSP00000318147:L300F	L	-	3	2	EDEM3	182957097	0.973000	0.33851	0.993000	0.49108	0.989000	0.77384	0.143000	0.16115	2.680000	0.91292	0.655000	0.94253	TTG		PASS	0.294	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		33	95	33	95	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186143736	186143736	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:186143736G>C	ENST00000271588.4	+	103	16134	c.15905G>C	c.(15904-15906)aGa>aCa	p.R5302T	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5302T|GS1-174L6.4_ENST00000428391.1_RNA	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5302	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R5302T(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTATGCCCAAGAGGTTATCGG	0.418																																						uc001grq.1																			1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(15904-15906)AGA>ACA		hemicentin 1 precursor							181.0	147.0	158.0					1																	186143736		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186143736G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15905G>C	1.37:g.186143736G>C	ENSP00000271588:p.Arg5302Thr					HMCN1_uc001grs.1_Missense_Mutation_p.R871T	p.R5302T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			103	16134	+			5302			EGF-like 5; calcium-binding (Potential).		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.15905G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754158	0.89843	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	D;D;D	0.92099	-2.97;-2.97;-2.97	5.45	5.45	0.79879	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.91452	0.7302	N	0.05330	-0.07	0.54753	D	0.999984	D	0.64830	0.994	D	0.75020	0.985	D	0.92059	0.5655	10	0.36615	T	0.2	.	19.2964	0.94124	0.0:0.0:1.0:0.0	.	5302	Q96RW7	HMCN1_HUMAN	T	5302;5302;94	ENSP00000271588:R5302T;ENSP00000356462:R5302T;ENSP00000406205:R94T	ENSP00000271588:R5302T	R	+	2	0	HMCN1	184410359	1.000000	0.71417	0.982000	0.44146	0.982000	0.71751	9.807000	0.99171	2.580000	0.87095	0.655000	0.94253	AGA		PASS	0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		47	100	47	100	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186305729	186305729	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:186305729C>G	ENST00000367478.4	-	33	4900	c.4604G>C	c.(4603-4605)aGa>aCa	p.R1535T		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1535					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.R1536T(1)|p.R1535T(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTGTGTGGTTCTATCTTGAAG	0.413			T	NTRK1	papillary thyroid																																	uc001grv.2				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(4603-4605)AGA>ACA		nuclear pore complex-associated protein TPR							127.0	113.0	117.0					1																	186305729		1894	4105	5999	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186305729C>G	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.4604G>C	1.37:g.186305729C>G	ENSP00000356448:p.Arg1535Thr						p.R1535T	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	33	4901	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1535			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.4604G>C	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.570694	0.45798	.	.	ENSG00000047410	ENST00000367478	T	0.22539	1.95	5.74	4.82	0.62117	.	0.087690	0.85682	D	0.000000	T	0.14356	0.0347	L	0.36672	1.1	0.25336	N	0.988997	B	0.18166	0.026	B	0.15870	0.014	T	0.21314	-1.0249	10	0.21540	T	0.41	.	6.4868	0.22093	0.0:0.6875:0.0:0.3125	.	1535	P12270	TPR_HUMAN	T	1535	ENSP00000356448:R1535T	ENSP00000356448:R1535T	R	-	2	0	TPR	184572352	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.329000	0.43876	1.402000	0.46780	0.650000	0.86243	AGA		PASS	0.413	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		6	210	6	210	---	---	---	---
B3GALT2	8707	broad.mit.edu	37	1	193150056	193150056	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:193150056G>C	ENST00000367434.4	-	2	1392	c.637C>G	c.(637-639)Cat>Gat	p.H213D	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	213					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.H213D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						ATTATATCATGATATTGTCTG	0.353																																						uc001gtc.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(637-639)CAT>GAT		UDP-Gal:betaGlcNAc beta							144.0	140.0	141.0					1																	193150056		2203	4300	6503	SO:0001583	missense	8707				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr1:193150056G>C	Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.637C>G	1.37:g.193150056G>C	ENSP00000356404:p.His213Asp					CDC73_uc001gtb.2_Intron	p.H213D	NM_003783	NP_003774	O43825	B3GT2_HUMAN			2	1352	-			213			Lumenal (Potential).		B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	c.637C>G	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.221824	0.58560	.	.	ENSG00000162630	ENST00000367434	T	0.41065	1.01	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.58921	0.2156	L	0.49513	1.565	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	T	0.46925	-0.9156	10	0.18710	T	0.47	.	19.8015	0.96509	0.0:0.0:1.0:0.0	.	213	O43825	B3GT2_HUMAN	D	213	ENSP00000356404:H213D	ENSP00000356404:H213D	H	-	1	0	B3GALT2	191416679	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.876000	0.87215	2.678000	0.91216	0.650000	0.86243	CAT		PASS	0.353	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783		58	162	58	162	---	---	---	---
CFHR5	81494	broad.mit.edu	37	1	196963300	196963300	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:196963300C>A	ENST00000256785.4	+	4	630	c.521C>A	c.(520-522)tCc>tAc	p.S174Y	CFHR5_ENST00000367414.5_Missense_Mutation_p.S198Y			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	174	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.S174Y(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTGAAATTCTCCTGCAGAAAA	0.353																																						uc001gts.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(520-522)TCC>TAC		complement factor H-related 5 precursor							96.0	109.0	105.0					1																	196963300		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196963300C>A	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.521C>A	1.37:g.196963300C>A	ENSP00000256785:p.Ser174Tyr						p.S174Y	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			4	649	+			174			Sushi 3.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.521C>A	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	C	8.642	0.896154	0.17686	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.66638	-0.22;-0.22	3.98	1.89	0.25635	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.80449	0.4625	M	0.90650	3.135	0.09310	N	0.999998	D	0.71674	0.998	D	0.73380	0.98	T	0.65742	-0.6094	9	0.49607	T	0.09	.	4.3335	0.11075	0.0:0.5969:0.2634:0.1397	.	174	Q9BXR6	FHR5_HUMAN	Y	198;174	ENSP00000356384:S198Y;ENSP00000256785:S174Y	ENSP00000256785:S174Y	S	+	2	0	CFHR5	195229923	0.000000	0.05858	0.813000	0.32504	0.076000	0.17211	-0.875000	0.04205	1.774000	0.52232	0.297000	0.19635	TCC		PASS	0.353	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		75	213	75	213	---	---	---	---
ZBTB41	360023	broad.mit.edu	37	1	197150130	197150130	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:197150130G>A	ENST00000367405.4	-	5	1732	c.1664C>T	c.(1663-1665)tCa>tTa	p.S555L	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	555					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.S555L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTCTCGTACTGATTTTCCACA	0.343																																						uc001gtx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1663-1665)TCA>TTA		zinc finger and BTB domain containing 41							179.0	161.0	167.0					1																	197150130		2203	4300	6503	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197150130G>A		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.1664C>T	1.37:g.197150130G>A	ENSP00000356375:p.Ser555Leu					ZBTB41_uc009wyz.1_RNA	p.S555L	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN			5	1733	-			555			C2H2-type 8.		A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.1664C>T	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138783	0.94560	.	.	ENSG00000177888	ENST00000367405	T	0.01767	4.65	5.66	5.66	0.87406	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37219	N	0.002190	T	0.09423	0.0232	M	0.72576	2.205	0.80722	D	1	D	0.61697	0.99	P	0.60068	0.868	T	0.00397	-1.1765	10	0.56958	D	0.05	.	20.0973	0.97856	0.0:0.0:1.0:0.0	.	555	Q5SVQ8	ZBT41_HUMAN	L	555	ENSP00000356375:S555L	ENSP00000356375:S555L	S	-	2	0	ZBTB41	195416753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.358000	0.97109	2.830000	0.97506	0.585000	0.79938	TCA		PASS	0.343	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		40	159	40	159	---	---	---	---
ZBTB41	360023	broad.mit.edu	37	1	197169465	197169465	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:197169465C>T	ENST00000367405.4	-	1	207	c.139G>A	c.(139-141)Gct>Act	p.A47T	CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	47					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.A47T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CAGTGAAGAGCTTCAGGAGTT	0.388																																						uc001gtx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(139-141)GCT>ACT		zinc finger and BTB domain containing 41							101.0	106.0	104.0					1																	197169465		2203	4300	6503	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197169465C>T		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.139G>A	1.37:g.197169465C>T	ENSP00000356375:p.Ala47Thr					ZBTB41_uc009wyz.1_RNA|CRB1_uc010poz.1_5'Flank	p.A47T	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN			1	208	-			47					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.139G>A	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	C	9.695	1.152824	0.21371	.	.	ENSG00000177888	ENST00000367405	T	0.05580	3.42	4.96	3.09	0.35607	.	0.425772	0.17680	N	0.165650	T	0.02970	0.0088	N	0.03608	-0.345	0.24684	N	0.993348	B	0.02656	0.0	B	0.01281	0.0	T	0.39860	-0.9593	10	0.62326	D	0.03	.	7.0192	0.24904	0.0:0.71:0.1405:0.1495	.	47	Q5SVQ8	ZBT41_HUMAN	T	47	ENSP00000356375:A47T	ENSP00000356375:A47T	A	-	1	0	ZBTB41	195436088	0.337000	0.24766	0.717000	0.30585	0.965000	0.64279	0.824000	0.27379	0.489000	0.27749	0.305000	0.20034	GCT		PASS	0.388	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		5	208	5	208	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197396927	197396927	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:197396927C>G	ENST00000367400.3	+	7	2607	c.2472C>G	c.(2470-2472)atC>atG	p.I824M	CRB1_ENST00000367399.2_Missense_Mutation_p.I712M|CRB1_ENST00000535699.1_Missense_Mutation_p.I755M|CRB1_ENST00000367397.1_Missense_Mutation_p.I205M|CRB1_ENST00000544212.1_Missense_Mutation_p.I305M|CRB1_ENST00000538660.1_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	824	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I824M(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CGTGGAAAATCGAAAAGGGAG	0.373																																						uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(2470-2472)ATC>ATG		crumbs homolog 1 precursor							73.0	71.0	72.0					1																	197396927		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197396927C>G		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2472C>G	1.37:g.197396927C>G	ENSP00000356370:p.Ile824Met					CRB1_uc010poz.1_Missense_Mutation_p.I755M|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.I712M|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.I305M|CRB1_uc001gub.1_Missense_Mutation_p.I473M	p.I824M	NM_201253	NP_957705	P82279	CRUM1_HUMAN			7	2607	+			824			Extracellular (Potential).|Laminin G-like 2.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.2472C>G	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	9.366	1.069246	0.20147	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29	4.97	-2.26	0.06867	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.86456	0.5937	M	0.74881	2.28	0.09310	N	1	D;D;D;D	0.89917	0.987;1.0;0.966;0.987	P;D;P;P	0.87578	0.849;0.998;0.801;0.897	T	0.77253	-0.2656	9	0.32370	T	0.25	.	10.7272	0.46074	0.0:0.5263:0.0:0.4737	.	755;712;473;824	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	M	755;824;712;305;205;473	ENSP00000438786:I755M;ENSP00000356370:I824M;ENSP00000356369:I712M;ENSP00000444556:I305M;ENSP00000356367:I205M	ENSP00000356367:I205M	I	+	3	3	CRB1	195663550	0.408000	0.25360	0.003000	0.11579	0.005000	0.04900	0.117000	0.15583	-0.344000	0.08338	-1.223000	0.01593	ATC		PASS	0.373	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		21	86	21	86	---	---	---	---
KDM5B	10765	broad.mit.edu	37	1	202701006	202701006	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:202701006G>A	ENST00000367265.3	-	24	5135	c.3971C>T	c.(3970-3972)tCa>tTa	p.S1324L	KDM5B_ENST00000367264.2_Missense_Mutation_p.S1360L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1324					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S1324L(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GTGCAAATATGAGGTTCTGTT	0.418																																						uc001gyf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|urinary_tract(1)	5						c.(3970-3972)TCA>TTA		jumonji, AT rich interactive domain 1B							112.0	107.0	109.0					1																	202701006		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202701006G>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3971C>T	1.37:g.202701006G>A	ENSP00000356234:p.Ser1324Leu					KDM5B_uc009xag.2_Missense_Mutation_p.S1360L|KDM5B_uc001gyg.1_Missense_Mutation_p.S1166L	p.S1324L	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			24	4087	-			1324					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.3971C>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944552	0.53079	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.85411	-1.89;-1.69;-1.98	5.78	5.78	0.91487	.	0.499419	0.22492	N	0.059355	T	0.80618	0.4657	L	0.54323	1.7	0.30072	N	0.809925	B;B	0.21147	0.052;0.002	B;B	0.20384	0.029;0.004	T	0.72640	-0.4232	10	0.34782	T	0.22	-4.9516	9.3206	0.37962	0.1202:0.0:0.8798:0.0	.	1360;1324	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	L	1324;1166;1360;1166	ENSP00000356234:S1324L;ENSP00000356233:S1360L;ENSP00000235790:S1166L	ENSP00000235790:S1166L	S	-	2	0	KDM5B	200967629	1.000000	0.71417	0.981000	0.43875	0.999000	0.98932	3.700000	0.54786	2.894000	0.99253	0.655000	0.94253	TCA		PASS	0.418	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		49	125	49	125	---	---	---	---
KDM5B	10765	broad.mit.edu	37	1	202702639	202702640	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:202702639_202702640GG>AA	ENST00000367265.3	-	23	4962_4963	c.3798_3799CC>TT	c.(3796-3801)gcCCag>gcTTag	p.Q1267*	KDM5B_ENST00000367264.2_Nonsense_Mutation_p.Q1303*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1267					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Q1267*(2)|p.A1266A(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGCAGTTGCTGGGCTCTGTGCT	0.52																																						uc001gyf.2																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|breast(2)|urinary_tract(1)	5						c.(3799-3801)CAG>TAG|c.(3796-3798)GCC>GCT		jumonji, AT rich interactive domain 1B																																				SO:0001587	stop_gained	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202702639G>A|g.chr1:202702640G>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3798_3799delinsAA	1.37:g.202702639_202702640delinsAA	ENSP00000356234:p.Gln1267*					KDM5B_uc009xag.2_Nonsense_Mutation_p.Q1303*|KDM5B_uc001gyg.1_Nonsense_Mutation_p.Q1109*|KDM5B_uc009xag.2_Silent_p.A1302A|KDM5B_uc001gyg.1_Silent_p.A1108A	p.Q1267*|p.A1266A	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			23	3915|3914	-			1267|1266					O95811|Q15752|Q9Y3Q5	Nonsense_Mutation|Silent	SNP	ENST00000367265.3	37	c.3799C>T|c.3798C>T	CCDS30974.1																																																																																				PASS	0.520	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		70|71	144|140	70	140	---	---	---	---
KDM5B	10765	broad.mit.edu	37	1	202704571	202704571	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:202704571C>G	ENST00000367265.3	-	22	4573	c.3409G>C	c.(3409-3411)Gag>Cag	p.E1137Q	KDM5B_ENST00000367264.2_Missense_Mutation_p.E1173Q	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1137					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E1137Q(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GAAGCAGTCTCCTTGCTTTCA	0.388																																						uc001gyf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|urinary_tract(1)	5						c.(3409-3411)GAG>CAG		jumonji, AT rich interactive domain 1B							148.0	140.0	143.0					1																	202704571		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202704571C>G	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3409G>C	1.37:g.202704571C>G	ENSP00000356234:p.Glu1137Gln					KDM5B_uc009xag.2_Missense_Mutation_p.E1173Q|KDM5B_uc001gyg.1_Missense_Mutation_p.E979Q	p.E1137Q	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			22	3525	-			1137					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.3409G>C	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076218	0.76415	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.86097	-1.96;-1.77;-2.07	6.07	6.07	0.98685	.	0.043459	0.85682	D	0.000000	D	0.85164	0.5634	L	0.36672	1.1	0.52099	D	0.99994	P;B	0.48089	0.905;0.41	P;B	0.47626	0.552;0.184	D	0.86034	0.1515	10	0.87932	D	0	-29.2841	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1173;1137	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	Q	1137;979;1173;979	ENSP00000356234:E1137Q;ENSP00000356233:E1173Q;ENSP00000235790:E979Q	ENSP00000235790:E979Q	E	-	1	0	KDM5B	200971194	1.000000	0.71417	0.977000	0.42913	0.955000	0.61496	7.287000	0.78681	2.885000	0.99019	0.655000	0.94253	GAG		PASS	0.388	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		73	186	73	186	---	---	---	---
KDM5B	10765	broad.mit.edu	37	1	202709841	202709841	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:202709841C>G	ENST00000367265.3	-	20	4209	c.3045G>C	c.(3043-3045)caG>caC	p.Q1015H	KDM5B_ENST00000367264.2_Missense_Mutation_p.Q1051H	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1015					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Q1015H(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTCTGGCTCTCTGCACTGAGT	0.473																																						uc001gyf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|urinary_tract(1)	5						c.(3043-3045)CAG>CAC		jumonji, AT rich interactive domain 1B							73.0	78.0	77.0					1																	202709841		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202709841C>G	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3045G>C	1.37:g.202709841C>G	ENSP00000356234:p.Gln1015His					KDM5B_uc009xag.2_Missense_Mutation_p.Q1051H|KDM5B_uc001gyg.1_Missense_Mutation_p.Q857H	p.Q1015H	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			20	3161	-			1015					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.3045G>C	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385265	0.61956	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.46451	0.87;0.87;0.87	5.73	1.74	0.24563	Lysine-specific demethylase-like domain (1);	0.102450	0.64402	D	0.000002	T	0.40222	0.1108	L	0.50333	1.59	0.42157	D	0.991584	P;B	0.51240	0.943;0.017	P;B	0.47102	0.537;0.043	T	0.18935	-1.0321	10	0.49607	T	0.09	-22.8212	9.6328	0.39789	0.0:0.6019:0.0:0.3981	.	1051;1015	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	H	1015;857;1051;857	ENSP00000356234:Q1015H;ENSP00000356233:Q1051H;ENSP00000235790:Q857H	ENSP00000235790:Q857H	Q	-	3	2	KDM5B	200976464	0.914000	0.31030	0.996000	0.52242	0.996000	0.88848	0.069000	0.14552	0.136000	0.18733	0.557000	0.71058	CAG		PASS	0.473	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		48	101	48	101	---	---	---	---
KDM5B	10765	broad.mit.edu	37	1	202715077	202715077	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:202715077C>T	ENST00000367265.3	-	16	3396	c.2232G>A	c.(2230-2232)atG>atA	p.M744I	KDM5B_ENST00000367264.2_Missense_Mutation_p.M780I	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	744					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.M744I(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATGCATTCATCATAGGGTAGA	0.398																																						uc001gyf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|urinary_tract(1)	5						c.(2230-2232)ATG>ATA		jumonji, AT rich interactive domain 1B							160.0	149.0	152.0					1																	202715077		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202715077C>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2232G>A	1.37:g.202715077C>T	ENSP00000356234:p.Met744Ile					KDM5B_uc009xag.2_Missense_Mutation_p.M780I|KDM5B_uc001gyg.1_Missense_Mutation_p.M586I	p.M744I	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			16	2348	-			744					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.2232G>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993569	0.93167	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790;ENST00000543924	D;D;D	0.87809	-2.3;-2.3;-2.3	5.96	5.05	0.67936	Zinc finger, C5HC2-type (1);	0.108017	0.85682	D	0.000000	D	0.88837	0.6545	L	0.61036	1.89	0.80722	D	1	P;P	0.49307	0.922;0.795	P;P	0.48952	0.511;0.596	D	0.89911	0.4052	10	0.87932	D	0	-28.0627	15.0444	0.71816	0.0:0.9319:0.0:0.0681	.	780;744	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	I	744;586;780;586;113	ENSP00000356234:M744I;ENSP00000356233:M780I;ENSP00000235790:M586I	ENSP00000235790:M586I	M	-	3	0	KDM5B	200981700	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.088000	0.71371	1.517000	0.48917	0.655000	0.94253	ATG		PASS	0.398	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		125	302	125	302	---	---	---	---
KDM5B	10765	broad.mit.edu	37	1	202729662	202729662	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:202729662C>T	ENST00000367265.3	-	8	2122	c.958G>A	c.(958-960)Gat>Aat	p.D320N	KDM5B_ENST00000367264.2_Missense_Mutation_p.D356N|KDM5B_ENST00000456180.1_5'Flank	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	320					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D320N(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CGGTCTTCATCATTGCCACTG	0.438																																						uc001gyf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|urinary_tract(1)	5						c.(958-960)GAT>AAT		jumonji, AT rich interactive domain 1B							122.0	101.0	108.0					1																	202729662		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202729662C>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.958G>A	1.37:g.202729662C>T	ENSP00000356234:p.Asp320Asn					KDM5B_uc009xag.2_Missense_Mutation_p.D356N|KDM5B_uc001gyg.1_Missense_Mutation_p.D162N	p.D320N	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			8	1074	-			320			PHD-type 1.		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.958G>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229727	0.79688	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.88201	-2.35;-2.35;-2.35	5.1	5.1	0.69264	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.046141	0.85682	D	0.000000	D	0.89044	0.6603	N	0.20881	0.62	0.80722	D	1	D;B	0.76494	0.999;0.05	D;B	0.65233	0.933;0.058	D	0.85015	0.0908	10	0.11182	T	0.66	-25.6912	18.8722	0.92320	0.0:1.0:0.0:0.0	.	356;320	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	N	320;162;356;162	ENSP00000356234:D320N;ENSP00000356233:D356N;ENSP00000235790:D162N	ENSP00000235790:D162N	D	-	1	0	KDM5B	200996285	1.000000	0.71417	0.812000	0.32479	0.990000	0.78478	7.776000	0.85560	2.544000	0.85801	0.491000	0.48974	GAT		PASS	0.438	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		30	64	30	64	---	---	---	---
AVPR1B	553	broad.mit.edu	37	1	206224942	206224942	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:206224942C>T	ENST00000367126.4	+	1	967	c.502C>T	c.(502-504)Caa>Taa	p.Q168*	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	168					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.Q168*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CAGCCTCCCTCAAGTCTTCAT	0.652																																						uc001hds.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(502-504)CAA>TAA		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						35.0	37.0	36.0					1																	206224942		2201	4292	6493	SO:0001587	stop_gained	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206224942C>T	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.502C>T	1.37:g.206224942C>T	ENSP00000356094:p.Gln168*						p.Q168*	NM_000707	NP_000698	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		1	660	+			168			Helical; Name=4; (Potential).		B0M0J6|Q5TZ00	Nonsense_Mutation	SNP	ENST00000367126.4	37	c.502C>T	CCDS30994.1	.	.	.	.	.	.	.	.	.	.	C	42	9.562397	0.99205	.	.	ENSG00000198049	ENST00000367126	.	.	.	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.4233	19.7287	0.96174	0.0:1.0:0.0:0.0	.	.	.	.	X	168	.	ENSP00000356094:Q168X	Q	+	1	0	AVPR1B	204391565	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.818000	0.86416	2.751000	0.94390	0.514000	0.50259	CAA		PASS	0.652	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		37	76	37	76	---	---	---	---
KCNH1	3756	broad.mit.edu	37	1	211256146	211256146	+	Silent	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:211256146G>T	ENST00000271751.4	-	5	561	c.534C>A	c.(532-534)gtC>gtA	p.V178V	KCNH1_ENST00000367007.4_Silent_p.V178V			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	178					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.V178V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGTGCTTGTGGACATTCTCGC	0.567																																						uc001hib.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(532-534)GTC>GTA		potassium voltage-gated channel, subfamily H,							130.0	109.0	116.0					1																	211256146		2203	4300	6503	SO:0001819	synonymous_variant	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211256146G>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.534C>A	1.37:g.211256146G>T						KCNH1_uc001hic.2_Silent_p.V178V	p.V178V	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	5	704	-			178			Cytoplasmic (Potential).		B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	c.534C>A	CCDS1496.1																																																																																				PASS	0.567	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		64	118	64	118	---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214787149	214787149	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:214787149C>T	ENST00000366955.3	+	2	220	c.52C>T	c.(52-54)Cag>Tag	p.Q18*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.Q18*(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGAGCTCTTCAGAAAATTCA	0.433																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(52-54)CAG>TAG		centromere protein F							74.0	80.0	78.0					1																	214787149		2203	4300	6503	SO:0001587	stop_gained	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214787149C>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.52C>T	1.37:g.214787149C>T	ENSP00000355922:p.Gln18*						p.Q18*	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	2	226	+			18			Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).|Potential.		Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	ENST00000366955.3	37	c.52C>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	37	6.306527	0.97458	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.05	5.05	0.67936	.	0.000000	0.31415	N	0.007692	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.7759	0.91911	0.0:1.0:0.0:0.0	.	.	.	.	X	18	.	ENSP00000355922:Q18X	Q	+	1	0	CENPF	212853772	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.543000	0.82106	2.514000	0.84764	0.557000	0.71058	CAG		PASS	0.433	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		46	122	46	122	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216420010	216420010	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:216420010G>T	ENST00000307340.3	-	13	3112	c.2726C>A	c.(2725-2727)cCt>cAt	p.P909H	USH2A_ENST00000366943.2_Missense_Mutation_p.P909H|USH2A_ENST00000366942.3_Missense_Mutation_p.P909H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	909	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.P909H(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATGGTCCCAGGTAATGTCCC	0.458										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(2725-2727)CCT>CAT		usherin isoform B							204.0	191.0	195.0					1																	216420010		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216420010G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2726C>A	1.37:g.216420010G>T	ENSP00000305941:p.Pro909His	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.P909H	p.P909H	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	13	3113	-			909			Laminin EGF-like 8.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.2726C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294936	0.60086	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.61274	0.12;0.12;0.12	6.03	6.03	0.97812	EGF-like, laminin (3);	0.179545	0.26026	N	0.026796	T	0.68897	0.3051	L	0.56199	1.76	0.47511	D	0.999441	P;D	0.76494	0.506;0.999	B;D	0.69479	0.344;0.964	T	0.62964	-0.6742	10	0.26408	T	0.33	.	13.7134	0.62682	0.0699:0.0:0.9301:0.0	.	909;909	O75445-2;O75445	.;USH2A_HUMAN	H	909	ENSP00000305941:P909H;ENSP00000355910:P909H;ENSP00000355909:P909H	ENSP00000305941:P909H	P	-	2	0	USH2A	214486633	0.998000	0.40836	0.997000	0.53966	0.480000	0.33159	4.083000	0.57643	2.861000	0.98227	0.655000	0.94253	CCT		PASS	0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		92	230	92	230	---	---	---	---
TGFB2	7042	broad.mit.edu	37	1	218614660	218614660	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:218614660G>C	ENST00000366930.4	+	7	1668	c.1201G>C	c.(1201-1203)Gaa>Caa	p.E401Q	TGFB2_ENST00000366929.4_Missense_Mutation_p.E429Q|TGFB2_ENST00000479322.1_3'UTR	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	401					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)	p.E429Q(1)|p.E401Q(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		ACCCAAGATTGAACAGCTTTC	0.373																																						uc001hlm.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1201-1203)GAA>CAA		transforming growth factor, beta 2 isoform 2							111.0	109.0	109.0					1																	218614660		2203	4300	6503	SO:0001583	missense	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218614660G>C	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.1201G>C	1.37:g.218614660G>C	ENSP00000355897:p.Glu401Gln					TGFB2_uc001hln.2_Missense_Mutation_p.E429Q|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	p.E401Q	NM_003238	NP_003229	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	7	1854	+			401					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	c.1201G>C	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636254	0.87760	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	D;D	0.84370	-1.84;-1.84	5.91	5.91	0.95273	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91345	0.7270	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.91061	0.4885	10	0.66056	D	0.02	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	429;401	P61812-2;P61812	.;TGFB2_HUMAN	Q	401;429	ENSP00000355897:E401Q;ENSP00000355896:E429Q	ENSP00000355896:E429Q	E	+	1	0	TGFB2	216681283	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	GAA		PASS	0.373	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		43	140	43	140	---	---	---	---
TAF1A	9015	broad.mit.edu	37	1	222761894	222761894	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:222761894G>C	ENST00000352967.4	-	2	200	c.12C>G	c.(10-12)ttC>ttG	p.F4L	TAF1A_ENST00000543857.1_Missense_Mutation_p.F4L|RP11-378J18.3_ENST00000413074.1_RNA|TAF1A_ENST00000366890.1_5'UTR|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000391882.1_5'UTR|TAF1A_ENST00000350027.4_Missense_Mutation_p.F4L|RP11-378J18.3_ENST00000441835.1_RNA|RP11-378J18.3_ENST00000427540.1_RNA	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	4					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)	p.F4L(1)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		ATTCTTCACTGAAATCACTCA	0.383																																						uc009xdz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(10-12)TTC>TTG		TBP-associated factor 1A isoform 2							144.0	138.0	140.0					1																	222761894		2203	4300	6503	SO:0001583	missense	9015				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	g.chr1:222761894G>C	L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.12C>G	1.37:g.222761894G>C	ENSP00000327072:p.Phe4Leu					TAF1A_uc001hni.1_5'UTR|TAF1A_uc001hnj.2_Missense_Mutation_p.F4L|TAF1A_uc001hnk.2_5'UTR|TAF1A_uc010pur.1_Missense_Mutation_p.F4L	p.F4L	NM_139352	NP_647603	Q15573	TAF1A_HUMAN		GBM - Glioblastoma multiforme(131;0.0186)	2	201	-			4					B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	ENST00000352967.4	37	c.12C>G	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849567	0.71603	.	.	ENSG00000143498	ENST00000350027;ENST00000352967;ENST00000433270;ENST00000391883;ENST00000543857	T;T;T;T	0.58652	0.46;0.46;0.32;0.37	5.81	4.89	0.63831	.	0.344695	0.34700	N	0.003743	T	0.68550	0.3013	L	0.54323	1.7	0.31485	N	0.666681	B;D	0.71674	0.143;0.998	B;D	0.80764	0.073;0.994	T	0.71377	-0.4611	10	0.41790	T	0.15	-8.6982	10.5844	0.45273	0.0884:0.0:0.9116:0.0	.	4;4	B4DS21;Q15573	.;TAF1A_HUMAN	L	4	ENSP00000339976:F4L;ENSP00000327072:F4L;ENSP00000375755:F4L;ENSP00000437725:F4L	ENSP00000339976:F4L	F	-	3	2	TAF1A	220828517	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	0.880000	0.28159	1.448000	0.47680	0.591000	0.81541	TTC		PASS	0.383	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681		4	292	4	292	---	---	---	---
MIA3	375056	broad.mit.edu	37	1	222801268	222801268	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:222801268G>A	ENST00000344922.5	+	4	731	c.706G>A	c.(706-708)Gat>Aat	p.D236N	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.D236N|MIA3_ENST00000344507.1_Missense_Mutation_p.D236N	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	236					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.D236N(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AATGCTGCAAGATAAACTAAA	0.383																																						uc001hnl.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(706-708)GAT>AAT		melanoma inhibitory activity family, member 3							55.0	53.0	54.0					1																	222801268		1875	4124	5999	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222801268G>A		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.706G>A	1.37:g.222801268G>A	ENSP00000340900:p.Asp236Asn					MIA3_uc009xea.1_Missense_Mutation_p.D72N	p.D236N	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	715	+			236			Extracellular (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.706G>A	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216101	0.39201	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000344507	T;T;T	0.40225	1.04;1.04;1.04	5.36	4.45	0.53987	.	.	.	.	.	T	0.47040	0.1424	M	0.71581	2.175	0.09310	N	1	P;B	0.37207	0.587;0.451	B;B	0.38156	0.266;0.07	T	0.45745	-0.9240	9	0.66056	D	0.02	.	14.2383	0.65941	0.0725:0.0:0.9275:0.0	.	236;236	Q5JRA6-2;Q5JRA6	.;MIA3_HUMAN	N	236	ENSP00000340900:D236N;ENSP00000340587:D236N;ENSP00000341348:D236N	ENSP00000325973:D236N	D	+	1	0	MIA3	220867891	0.933000	0.31639	0.025000	0.17156	0.088000	0.18126	3.583000	0.53928	1.388000	0.46506	-0.225000	0.12378	GAT		PASS	0.383	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		31	80	31	80	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228401979	228401979	+	Silent	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:228401979C>A	ENST00000422127.1	+	4	1407	c.1363C>A	c.(1363-1365)Cgg>Agg	p.R455R	OBSCN_ENST00000570156.2_Silent_p.R455R|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|C1orf145_ENST00000295012.5_5'Flank|OBSCN_ENST00000284548.11_Silent_p.R455R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	455	Ig-like 5.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R455R(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACTGGCTGCGGAACCAGGA	0.697																																						uc009xez.1																			4	Substitution - coding silent(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(1363-1365)CGG>AGG		obscurin, cytoskeletal calmodulin and							32.0	41.0	38.0					1																	228401979		1948	4113	6061	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228401979C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.1363C>A	1.37:g.228401979C>A						OBSCN_uc001hsn.2_Silent_p.R455R|uc001hsm.1_5'Flank	p.R455R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			4	1407	+		Prostate(94;0.0405)	455			Ig-like 5.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.1363C>A	CCDS58065.1																																																																																				PASS	0.697	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		16	47	16	47	---	---	---	---
TRIM17	51127	broad.mit.edu	37	1	228596932	228596932	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:228596932G>T	ENST00000366697.2	-	5	1780	c.824C>A	c.(823-825)aCc>aAc	p.T275N	TRIM11_ENST00000284551.6_5'Flank|TRIM17_ENST00000295033.3_Missense_Mutation_p.T275N|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000456946.2_Missense_Mutation_p.T275N|TRIM11_ENST00000366699.3_5'Flank|TRIM17_ENST00000366698.2_Missense_Mutation_p.T275N			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	275					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T275N(2)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CCTGGGTCTGGTTGGGGGGGC	0.582																																						uc001hsu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(823-825)ACC>AAC		tripartite motif-containing 17 isoform 1							116.0	118.0	117.0					1																	228596932		2203	4300	6503	SO:0001583	missense	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228596932G>T	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.824C>A	1.37:g.228596932G>T	ENSP00000355658:p.Thr275Asn					TRIM11_uc001hss.2_5'Flank|TRIM11_uc010pvx.1_5'Flank|TRIM11_uc001hst.1_5'Flank|TRIM17_uc001hsv.2_Missense_Mutation_p.T275N|TRIM17_uc001hsw.2_Missense_Mutation_p.T248N|TRIM17_uc009xfb.2_Missense_Mutation_p.T275N	p.T275N	NM_016102	NP_057186	Q9Y577	TRI17_HUMAN			6	1209	-		Prostate(94;0.0724)	275					B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	37	c.824C>A	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	G	3.500	-0.102054	0.06967	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033;ENST00000456946;ENST00000479800	T;T;T;T;T	0.51817	0.69;0.69;0.69;1.39;1.18	4.46	-2.17	0.07059	.	1.061000	0.07472	N	0.902398	T	0.46737	0.1408	L	0.42245	1.32	0.09310	N	1	P;B	0.49783	0.928;0.229	P;B	0.51229	0.663;0.04	T	0.48210	-0.9055	10	0.40728	T	0.16	.	8.6777	0.34189	0.5825:0.0:0.4175:0.0	.	275;275	Q9Y577-2;Q9Y577	.;TRI17_HUMAN	N	275;275;275;275;248	ENSP00000355658:T275N;ENSP00000355659:T275N;ENSP00000295033:T275N;ENSP00000403312:T275N;ENSP00000430468:T248N	ENSP00000295033:T275N	T	-	2	0	TRIM17	226663555	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.839000	0.04368	-0.301000	0.08882	0.462000	0.41574	ACC		PASS	0.582	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		67	218	67	218	---	---	---	---
DISC1	27185	broad.mit.edu	37	1	232172460	232172460	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:232172460G>C	ENST00000439617.2	+	13	2501	c.2448G>C	c.(2446-2448)caG>caC	p.Q816H	DISC1_ENST00000366637.3_Missense_Mutation_p.Q126H	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	816	Interaction with ATF4 and ATF5.|Interaction with NDEL1.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)		p.Q848H(1)|p.Q848Q(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGGAGCTCCAGATGGTGAAGG	0.582																																						uc001huz.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	skin(1)	1						c.(2446-2448)CAG>CAC		disrupted in schizophrenia 1 isoform L							33.0	37.0	36.0					1																	232172460		2000	4170	6170	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:232172460G>C	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000439617.2:c.2448G>C	1.37:g.232172460G>C	ENSP00000403888:p.Gln816His					DISC1_uc001hva.2_Missense_Mutation_p.Q794H	p.Q816H	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN			13	2501	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	816			Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with NDEL1.|Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Potential.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000439617.2	37	c.2448G>C		.	.	.	.	.	.	.	.	.	.	G	22.3	4.271437	0.80469	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366638;ENST00000532576	T	0.12255	2.7	5.51	5.51	0.81932	.	0.150456	0.44483	D	0.000459	T	0.25827	0.0629	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.01312	-1.1388	10	0.72032	D	0.01	-13.595	17.8434	0.88721	0.0:0.0:1.0:0.0	.	794;816	Q9NRI5-2;Q9NRI5	.;DISC1_HUMAN	H	816;794;848;694	ENSP00000403888:Q816H	ENSP00000355597:Q794H	Q	+	3	2	DISC1	230239083	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.179000	0.71974	2.881000	0.98747	0.650000	0.86243	CAG		PASS	0.582	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000092351.2	NM_018662		15	32	15	32	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235944340	235944340	+	Nonsense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:235944340G>C	ENST00000389794.3	-	16	5213	c.5039C>G	c.(5038-5040)tCa>tGa	p.S1680*	LYST_ENST00000389793.2_Nonsense_Mutation_p.S1680*|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1680					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.S1680*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGCCTCTTGTGAACCAACCTT	0.343																																						uc001hxj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(5038-5040)TCA>TGA		lysosomal trafficking regulator							34.0	33.0	34.0					1																	235944340		2203	4300	6503	SO:0001587	stop_gained	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235944340G>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5039C>G	1.37:g.235944340G>C	ENSP00000374444:p.Ser1680*					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	p.S1680*	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		16	5214	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1680					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	ENST00000389794.3	37	c.5039C>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	46	12.114963	0.99637	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.05	5.05	0.67936	.	0.609185	0.17169	N	0.184380	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	18.769	0.91883	0.0:0.0:1.0:0.0	.	.	.	.	X	1680	.	ENSP00000374443:S1680X	S	-	2	0	LYST	234010963	0.998000	0.40836	0.994000	0.49952	0.957000	0.61999	6.204000	0.72143	2.506000	0.84524	0.467000	0.42956	TCA		PASS	0.343	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			23	66	23	66	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237780608	237780608	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:237780608T>A	ENST00000366574.2	+	38	6055	c.5738T>A	c.(5737-5739)cTc>cAc	p.L1913H	RYR2_ENST00000360064.6_Missense_Mutation_p.L1911H|RYR2_ENST00000542537.1_Missense_Mutation_p.L1897H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1913	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.L1911H(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)			CTTCAGTACCTCTGTGACTGC	0.393																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5737-5739)CTC>CAC		cardiac muscle ryanodine receptor							47.0	42.0	44.0					1																	237780608		1878	4122	6000	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.chr1:237780608T>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5738T>A	1.37:g.237780608T>A	ENSP00000355533:p.Leu1913His						p.L1913H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		38	5858	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1913			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5738T>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.497038	0.85069	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73681	-0.77;-0.77;-0.77	5.39	5.39	0.77823	.	0.000000	0.56097	D	0.000035	D	0.84120	0.5402	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	D	0.86135	0.1577	10	0.87932	D	0	.	15.4156	0.74966	0.0:0.0:0.0:1.0	.	1913	Q92736	RYR2_HUMAN	H	1913;1911;1897	ENSP00000355533:L1913H;ENSP00000353174:L1911H;ENSP00000443798:L1897H	ENSP00000353174:L1911H	L	+	2	0	RYR2	235847231	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.997000	0.88414	2.036000	0.60181	0.528000	0.53228	CTC		PASS	0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	27	7	27	---	---	---	---
GREM2	64388	broad.mit.edu	37	1	240656472	240656472	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:240656472T>G	ENST00000318160.4	-	2	570	c.304A>C	c.(304-306)Aac>Cac	p.N102H		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	102	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)	p.N102H(1)		endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TAGAAGGAGTTGCACTGGCCG	0.647																																						uc001hys.2																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)AAC>CAC		gremlin 2 precursor							59.0	61.0	60.0					1																	240656472		2203	4300	6503	SO:0001583	missense	64388				BMP signaling pathway	extracellular space	cytokine activity	g.chr1:240656472T>G	AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.304A>C	1.37:g.240656472T>G	ENSP00000318650:p.Asn102His						p.N102H	NM_022469	NP_071914	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		2	584	-		all_cancers(173;0.0196)	102			CTCK.		Q86UD9	Missense_Mutation	SNP	ENST00000318160.4	37	c.304A>C	CCDS31070.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.846814	0.91277	.	.	ENSG00000180875	ENST00000318160	T	0.33216	1.42	4.97	4.97	0.65823	DAN (1);Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59716	-0.7402	10	0.40728	T	0.16	-38.4768	14.6475	0.68772	0.0:0.0:0.0:1.0	.	102	Q9H772	GREM2_HUMAN	H	102	ENSP00000318650:N102H	ENSP00000318650:N102H	N	-	1	0	GREM2	238723095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.909000	0.87444	1.857000	0.53885	0.455000	0.32223	AAC		PASS	0.647	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	NM_022469		12	73	12	73	---	---	---	---
OPN3	23596	broad.mit.edu	37	1	241767865	241767865	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:241767865G>C	ENST00000366554.2	-	2	496	c.390C>G	c.(388-390)gcC>gcG	p.A130A	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	130					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.A130A(1)		endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CGGTTAGGGTGGCAATGGAAA	0.498																																						uc001hza.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(388-390)GCC>GCG		opsin 3							53.0	54.0	53.0					1																	241767865		2203	4300	6503	SO:0001819	synonymous_variant	23596				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	g.chr1:241767865G>C	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.390C>G	1.37:g.241767865G>C						OPN3_uc001hzb.2_RNA|OPN3_uc001hzc.2_Intron	p.A130A	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		2	535	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	130			Helical; Name=3; (Potential).		Q8IX08|Q9Y344	Silent	SNP	ENST00000366554.2	37	c.390C>G	CCDS31072.1																																																																																				PASS	0.498	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		9	38	9	38	---	---	---	---
C1orf100	200159	broad.mit.edu	37	1	244538705	244538705	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:244538705C>G	ENST00000308105.4	+	3	201	c.88C>G	c.(88-90)Caa>Gaa	p.Q30E	C1orf100_ENST00000366537.1_Missense_Mutation_p.Q30E|RP11-518L10.5_ENST00000417765.1_RNA	NM_001012970.1	NP_001012988.1	Q5SVJ3	CA100_HUMAN	chromosome 1 open reading frame 100	30								p.Q30E(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)	7	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)			AAGAGACGTTCAAGGCTATTA	0.458																																						uc001iah.2																			1	Substitution - Missense(1)		lung(1)		0						c.(88-90)CAA>GAA		hypothetical protein LOC200159							88.0	81.0	84.0					1																	244538705		2203	4300	6503	SO:0001583	missense	200159							g.chr1:244538705C>G	BC054479	CCDS31079.1, CCDS60465.1	1q44	2008-02-05			ENSG00000173728	ENSG00000173728			30435	protein-coding gene	gene with protein product							Standard	NM_001276348		Approved		uc001iah.4	Q5SVJ3	OTTHUMG00000040104	ENST00000308105.4:c.88C>G	1.37:g.244538705C>G	ENSP00000311218:p.Gln30Glu					C1orf100_uc001iai.2_Missense_Mutation_p.Q30E	p.Q30E	NM_001012970	NP_001012988	Q5SVJ3	CA100_HUMAN	all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)		3	201	+	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		30					Q5SVJ4	Missense_Mutation	SNP	ENST00000308105.4	37	c.88C>G	CCDS31079.1	.	.	.	.	.	.	.	.	.	.	C	3.718	-0.058095	0.07317	.	.	ENSG00000173728	ENST00000366537;ENST00000308105	.	.	.	5.35	0.7	0.18099	.	1.323640	0.04557	N	0.390851	T	0.35335	0.0928	L	0.40543	1.245	0.09310	N	1	B;B	0.21606	0.058;0.058	B;B	0.22601	0.04;0.04	T	0.28586	-1.0039	9	0.35671	T	0.21	-4.3506	7.7621	0.28959	0.514:0.343:0.143:0.0	.	30;30	Q5SVJ3-2;Q5SVJ3	.;CA100_HUMAN	E	30	.	ENSP00000311218:Q30E	Q	+	1	0	C1orf100	242605328	0.002000	0.14202	0.001000	0.08648	0.055000	0.15305	0.532000	0.23067	0.304000	0.22809	0.563000	0.77884	CAA		PASS	0.458	C1orf100-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096712.1	NM_001012970		32	117	32	117	---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247592978	247592978	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:247592978G>T	ENST00000336119.3	+	4	2994	c.2248G>T	c.(2248-2250)Gac>Tac	p.D750Y	NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000366496.2_Missense_Mutation_p.D750Y|NLRP3_ENST00000391828.3_Missense_Mutation_p.D750Y|NLRP3_ENST00000366497.2_Missense_Mutation_p.D750Y	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	750					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.D750Y(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGACCTCAGTGACAATTCTCT	0.512																																						uc001icr.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(2248-2250)GAC>TAC		NLR family, pyrin domain containing 3 isoform a							100.0	95.0	97.0					1																	247592978		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247592978G>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2248G>T	1.37:g.247592978G>T	ENSP00000337383:p.Asp750Tyr					NLRP3_uc001ics.2_Missense_Mutation_p.D750Y|NLRP3_uc001icu.2_Missense_Mutation_p.D750Y|NLRP3_uc001icw.2_Intron|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Missense_Mutation_p.D748Y	p.D750Y	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		6	2386	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	750			LRR 1.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.2248G>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	1.737	-0.492732	0.04322	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000366496	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	4.21	3.22	0.36961	.	0.303615	0.24041	N	0.042090	D	0.85331	0.5672	N	0.25286	0.73	0.31765	N	0.632811	P;P;P	0.47962	0.504;0.73;0.903	B;B;P	0.53266	0.271;0.295;0.722	D	0.84634	0.0691	10	0.49607	T	0.09	.	8.8062	0.34938	0.0:0.0:0.7757:0.2243	.	750;750;750	B7ZKS9;Q96P20-5;Q96P20	.;.;NALP3_HUMAN	Y	750	ENSP00000375704:D750Y;ENSP00000355453:D750Y;ENSP00000337383:D750Y;ENSP00000355452:D750Y	ENSP00000337383:D750Y	D	+	1	0	NLRP3	245659601	0.025000	0.19082	0.991000	0.47740	0.053000	0.15095	0.180000	0.16860	2.377000	0.81083	0.536000	0.68110	GAC		PASS	0.512	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		12	171	12	171	---	---	---	---
OR2G2	81470	broad.mit.edu	37	1	247752339	247752339	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:247752339C>T	ENST00000320065.1	+	1	678	c.678C>T	c.(676-678)caC>caT	p.H226H	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H226H(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACATTGCCCACGCAGTGTTGA	0.493																																						uc010pyy.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(676-678)CAC>CAT		olfactory receptor, family 2, subfamily G,							158.0	151.0	153.0					1																	247752339		2203	4300	6503	SO:0001819	synonymous_variant	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752339C>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.678C>T	1.37:g.247752339C>T							p.H226H	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	678	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		226			Cytoplasmic (Potential).		Q5JQT2|Q6IEZ0	Silent	SNP	ENST00000320065.1	37	c.678C>T	CCDS31092.1																																																																																				PASS	0.493	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			52	132	52	132	---	---	---	---
OR6F1	343169	broad.mit.edu	37	1	247875190	247875190	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:247875190A>T	ENST00000302084.2	-	1	915	c.868T>A	c.(868-870)Tat>Aat	p.Y290N	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y290N(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CGAAGCGTATAGATGAAGGGG	0.443																																						uc001idj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(868-870)TAT>AAT		olfactory receptor, family 6, subfamily F,							127.0	126.0	126.0					1																	247875190		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875190A>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.868T>A	1.37:g.247875190A>T	ENSP00000305640:p.Tyr290Asn						p.Y290N	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	868	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		290			Helical; Name=7; (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.868T>A	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.566486	0.45694	.	.	ENSG00000169214	ENST00000302084	T	0.61859	0.07	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39687	N	0.001283	D	0.84492	0.5484	H	0.99090	4.425	0.49213	D	0.999761	D	0.76494	0.999	D	0.83275	0.996	D	0.89024	0.3437	10	0.87932	D	0	-27.8353	11.2643	0.49101	1.0:0.0:0.0:0.0	.	290	Q8NGZ6	OR6F1_HUMAN	N	290	ENSP00000305640:Y290N	ENSP00000305640:Y290N	Y	-	1	0	OR6F1	245941813	1.000000	0.71417	0.969000	0.41365	0.070000	0.16714	5.706000	0.68362	1.574000	0.49760	0.482000	0.46254	TAT		PASS	0.443	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		68	172	68	172	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685476	248685476	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:248685476A>T	ENST00000343414.4	+	1	561	c.529A>T	c.(529-531)Att>Ttt	p.I177F		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I177F(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACTGGATCATATTTTCTGTGA	0.537																																						uc001ien.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(529-531)ATT>TTT		olfactory receptor, family 2, subfamily G,							108.0	100.0	103.0					1																	248685476		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685476A>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.529A>T	1.37:g.248685476A>T	ENSP00000341291:p.Ile177Phe						p.I177F	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	529	+	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)	all_cancers(173;0.0156)	177			Extracellular (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.529A>T	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	0.004	-2.308309	0.00237	.	.	ENSG00000188558	ENST00000343414	T	0.00009	9.51	3.68	-2.71	0.05986	GPCR, rhodopsin-like superfamily (1);	0.161370	0.28647	U	0.014602	T	0.00012	0.0000	N	0.00017	-2.845	0.09310	N	0.999998	B	0.09022	0.002	B	0.08055	0.003	T	0.53229	-0.8468	10	0.02654	T	1	.	5.8771	0.18834	0.2859:0.0:0.0931:0.621	.	177	Q5TZ20	OR2G6_HUMAN	F	177	ENSP00000341291:I177F	ENSP00000341291:I177F	I	+	1	0	OR2G6	246752099	0.000000	0.05858	0.129000	0.21949	0.198000	0.23893	0.059000	0.14322	-0.280000	0.09154	0.329000	0.21502	ATT		PASS	0.537	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		35	90	35	90	---	---	---	---
OR2T29	343563	broad.mit.edu	37	1	248722743	248722743	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:248722743A>C	ENST00000328570.3	-	1	54	c.50T>G	c.(49-51)aTc>aGc	p.I17S	RP11-438F14.3_ENST00000438623.1_RNA	NM_001004694.2	NP_001004694.2	Q8NH02	O2T29_HUMAN	olfactory receptor, family 2, subfamily T, member 29	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I17S(1)		NS(1)|lung(4)	5	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)			TCCCATGAGGATGAAATCCAA	0.493																																						uc001ieo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(31-33)ATC>AGC		olfactory receptor, family 2, subfamily T,							85.0	65.0	72.0					1																	248722743		2203	4298	6501	SO:0001583	missense	343563				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248722743A>C		CCDS55695.1	1q44	2012-08-09			ENSG00000182783	ENSG00000182783		"""GPCR / Class A : Olfactory receptors"""	31253	protein-coding gene	gene with protein product							Standard	NM_001004694		Approved		uc001ieo.2	Q8NH02	OTTHUMG00000040382	ENST00000328570.3:c.50T>G	1.37:g.248722743A>C	ENSP00000331774:p.Ile17Ser						p.I11S	NM_001004694	NP_001004694	Q8NH02	O2T29_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	32	-	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)		17			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000328570.3	37	c.32T>G	CCDS55695.1	.	.	.	.	.	.	.	.	.	.	a	4.733	0.136313	0.09032	.	.	ENSG00000182783	ENST00000328570	T	0.04156	3.69	2.73	1.53	0.23141	.	0.145452	0.31660	N	0.007267	T	0.07863	0.0197	M	0.81682	2.555	0.23227	N	0.998084	B	0.31174	0.311	B	0.32677	0.15	T	0.17837	-1.0356	10	0.87932	D	0	.	5.9627	0.19308	0.7495:0.0:0.0:0.2504	.	17	Q8NH02	O2T29_HUMAN	S	17	ENSP00000331774:I17S	ENSP00000331774:I17S	I	-	2	0	OR2T29	246789366	0.003000	0.15002	0.138000	0.22173	0.198000	0.23893	1.915000	0.39976	0.156000	0.19299	0.165000	0.16767	ATC		PASS	0.493	OR2T29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097132.1	NM_001004694		12	77	12	77	---	---	---	---
OR2T34	127068	broad.mit.edu	37	1	248737468	248737468	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:248737468G>C	ENST00000328782.2	-	1	612	c.591C>G	c.(589-591)gtC>gtG	p.V197V		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V197V(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			TATAGAGGGAGACGTCAGAGC	0.517																																						uc001iep.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(589-591)GTC>GTG		olfactory receptor, family 2, subfamily T,							157.0	176.0	169.0					1																	248737468		2144	4300	6444	SO:0001819	synonymous_variant	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737468G>C	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.591C>G	1.37:g.248737468G>C							p.V197V	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	591	-	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)		197			Extracellular (Potential).		B2RNJ8|Q6IEY5|Q96R31	Silent	SNP	ENST00000328782.2	37	c.591C>G	CCDS31120.1																																																																																				PASS	0.517	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		57	235	57	235	---	---	---	---
OR2T27	403239	broad.mit.edu	37	1	248813379	248813379	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:248813379C>A	ENST00000344889.3	-	1	806	c.807G>T	c.(805-807)gaG>gaT	p.E269D		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E269D(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTTGTCCTGCTCAGGGGTGT	0.527																																						uc010pzo.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(805-807)GAG>GAT		olfactory receptor, family 2, subfamily T,							63.0	55.0	58.0					1																	248813379		2184	4273	6457	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813379C>A		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.807G>T	1.37:g.248813379C>A	ENSP00000342008:p.Glu269Asp						p.E269D	NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	807	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	269			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000344889.3	37	c.807G>T	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	0.265	-0.996807	0.02145	.	.	ENSG00000187701	ENST00000344889	T	0.00076	8.76	3.42	0.29	0.15728	GPCR, rhodopsin-like superfamily (1);	0.612002	0.13321	N	0.396733	T	0.00109	0.0003	N	0.16016	0.355	0.09310	N	1	B	0.20368	0.044	B	0.29598	0.104	T	0.01146	-1.1437	10	0.21014	T	0.42	.	7.1714	0.25721	0.0:0.3743:0.5188:0.1069	.	269	Q8NH04	O2T27_HUMAN	D	269	ENSP00000342008:E269D	ENSP00000342008:E269D	E	-	3	2	OR2T27	246880002	0.000000	0.05858	0.021000	0.16686	0.036000	0.12997	-2.399000	0.01050	-0.033000	0.13736	-0.723000	0.03601	GAG		PASS	0.527	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		20	78	20	78	---	---	---	---
OR2T27	403239	broad.mit.edu	37	1	248814024	248814024	+	Silent	SNP	G	G	A	rs537728080	byFrequency	TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr1:248814024G>A	ENST00000344889.3	-	1	161	c.162C>T	c.(160-162)cgC>cgT	p.R54R		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R54R(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGTGTGGAGGCGGGAGTCTA	0.532																																						uc010pzo.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(160-162)CGC>CGT		olfactory receptor, family 2, subfamily T,							37.0	33.0	34.0					1																	248814024		2202	4275	6477	SO:0001819	synonymous_variant	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248814024G>A		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.162C>T	1.37:g.248814024G>A							p.R54R	NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	162	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	54			Cytoplasmic (Potential).			Silent	SNP	ENST00000344889.3	37	c.162C>T	CCDS31124.1																																																																																				PASS	0.532	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		5	38	5	38	---	---	---	---
TPO	7173	broad.mit.edu	37	2	1488566	1488566	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:1488566G>A	ENST00000345913.4	+	9	1628	c.1537G>A	c.(1537-1539)Gac>Aac	p.D513N	TPO_ENST00000329066.4_Missense_Mutation_p.D513N|TPO_ENST00000346956.3_Missense_Mutation_p.D513N|TPO_ENST00000382201.3_Missense_Mutation_p.D513N|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.D340N|TPO_ENST00000337415.3_Missense_Mutation_p.D513N|TPO_ENST00000382198.1_Missense_Mutation_p.D340N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	513					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.D513N(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGAGCACCCCGACCTGCCCGG	0.642																																						uc002qww.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(1537-1539)GAC>AAC		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						45.0	47.0	47.0					2																	1488566		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1488566G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1537G>A	2.37:g.1488566G>A	ENSP00000318820:p.Asp513Asn					TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.D513N|TPO_uc002qwr.2_Missense_Mutation_p.D513N|TPO_uc002qwx.2_Missense_Mutation_p.D513N|TPO_uc010yio.1_Missense_Mutation_p.D340N|TPO_uc010yip.1_Missense_Mutation_p.D513N|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	p.D513N	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	9	1628	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	513			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.1537G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	g	2.719	-0.267082	0.05754	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	T;T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.13	3.33	0.38152	.	1.598550	0.02881	N	0.132810	T	0.51295	0.1666	N	0.19112	0.55	0.09310	N	0.999998	P;P;P;P	0.41524	0.621;0.753;0.753;0.672	B;B;B;B	0.36504	0.145;0.2;0.2;0.226	T	0.43669	-0.9377	10	0.20046	T	0.44	-2.9903	8.0658	0.30659	0.3106:0.0:0.6894:0.0	.	513;340;513;513	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	N	513;513;513;340;513;513;340;442;44	ENSP00000337263:D513N;ENSP00000318820:D513N;ENSP00000263886:D513N;ENSP00000332044:D340N;ENSP00000329869:D513N;ENSP00000371636:D513N;ENSP00000371633:D340N;ENSP00000405788:D442N;ENSP00000419461:D44N	ENSP00000329869:D513N	D	+	1	0	TPO	1467573	0.001000	0.12720	0.000000	0.03702	0.036000	0.12997	1.308000	0.33528	0.551000	0.29008	-0.265000	0.10407	GAC		PASS	0.642	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		6	113	6	113	---	---	---	---
TSSC1	7260	broad.mit.edu	37	2	3217970	3217970	+	Missense_Mutation	SNP	C	C	T	rs376448610		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:3217970C>T	ENST00000382125.4	-	5	658	c.466G>A	c.(466-468)Gat>Aat	p.D156N	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000443925.2_Missense_Mutation_p.D156N|TSSC1_ENST00000398659.4_Missense_Mutation_p.D183N	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	156								p.D156N(1)		breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		ATATGGTTATCAGCCAAGGAA	0.413																																					Colon(140;1261 1762 4183 34270 49743)	uc002qxj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(466-468)GAT>AAT		tumor suppressing subtransferable candidate 1		C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	133.0	121.0	125.0		466	5.0	0.8	2		125	0,8600		0,0,4300	no	missense	TSSC1	NM_003310.2	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	156/388	3217970	1,13005	2203	4300	6503	SO:0001583	missense	7260						protein binding	g.chr2:3217970C>T	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.466G>A	2.37:g.3217970C>T	ENSP00000371559:p.Asp156Asn					TSSC1_uc002qxi.2_RNA	p.D156N	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	5	659	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	156			WD 1.		D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	ENST00000382125.4	37	c.466G>A	CCDS1651.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773605	0.49786	2.27E-4	0.0	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000443925	T;T;T	0.21031	2.03;2.03;2.03	5.0	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.29355	0.0731	M	0.78049	2.395	0.80722	D	1	B	0.25563	0.129	B	0.21151	0.033	T	0.13361	-1.0512	10	0.72032	D	0.01	-2.5233	16.1381	0.81502	0.0:1.0:0.0:0.0	.	156	Q53HC9	TSSC1_HUMAN	N	156;183;156	ENSP00000371559:D156N;ENSP00000381652:D183N;ENSP00000389080:D156N	ENSP00000371559:D156N	D	-	1	0	TSSC1	3196977	1.000000	0.71417	0.781000	0.31783	0.328000	0.28507	6.784000	0.75084	2.465000	0.83290	0.655000	0.94253	GAT		PASS	0.413	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		80	244	80	244	---	---	---	---
ID2	3398	broad.mit.edu	37	2	8822394	8822394	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:8822394G>C	ENST00000234091.4	+	3	959	c.99G>C	c.(97-99)atG>atC	p.M33I	ID2_ENST00000396290.1_Missense_Mutation_p.M33I|ID2_ENST00000331129.3_Missense_Mutation_p.M33I|AC011747.7_ENST00000455965.1_RNA			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	33	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				adipose tissue development (GO:0060612)|bundle of His development (GO:0003166)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|embryonic digestive tract morphogenesis (GO:0048557)|endodermal digestive tract morphogenesis (GO:0061031)|entrainment of circadian clock by photoperiod (GO:0043153)|enucleate erythrocyte differentiation (GO:0043353)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|locomotor rhythm (GO:0045475)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|membranous septum morphogenesis (GO:0003149)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|natural killer cell differentiation (GO:0001779)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of DNA binding (GO:0043392)|negative regulation of gene expression (GO:0010629)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate commitment (GO:0048663)|olfactory bulb development (GO:0021772)|oligodendrocyte development (GO:0014003)|Peyer's patch development (GO:0048541)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of lipid metabolic process (GO:0019216)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	ion channel binding (GO:0044325)	p.M33I(1)		breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACGACCCGATGAGCCTGCTAT	0.562																																						uc010yiu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)ATG>ATC		inhibitor of DNA binding 2							86.0	83.0	84.0					2																	8822394		2203	4300	6503	SO:0001583	missense	3398				cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding	g.chr2:8822394G>C		CCDS1659.1	2p25	2013-05-21			ENSG00000115738	ENSG00000115738		"""Basic helix-loop-helix proteins"""	5361	protein-coding gene	gene with protein product	"""cell growth-inhibiting gene 8"""	600386				8294468	Standard	NM_002166		Approved	GIG8, bHLHb26	uc002qza.3	Q02363	OTTHUMG00000112454	ENST00000234091.4:c.99G>C	2.37:g.8822394G>C	ENSP00000234091:p.Met33Ile					ID2_uc002qza.2_Missense_Mutation_p.M33I	p.M33I	NM_002166	NP_002157	Q02363	ID2_HUMAN			3	594	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		33						Missense_Mutation	SNP	ENST00000234091.4	37	c.99G>C	CCDS1659.1	.	.	.	.	.	.	.	.	.	.	g	16.63	3.177195	0.57692	.	.	ENSG00000115738	ENST00000234091;ENST00000396290;ENST00000331129	.	.	.	5.54	5.54	0.83059	Helix-loop-helix DNA-binding (2);	0.193538	0.56097	D	0.000030	T	0.65101	0.2659	L	0.55990	1.75	0.46061	D	0.998841	B	0.14012	0.009	B	0.12156	0.007	T	0.59627	-0.7419	9	0.38643	T	0.18	-8.9692	19.1101	0.93313	0.0:0.0:1.0:0.0	.	33	Q02363	ID2_HUMAN	I	33	.	ENSP00000234091:M33I	M	+	3	0	ID2	8739845	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.107000	0.71517	2.606000	0.88127	0.550000	0.68814	ATG		PASS	0.562	ID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231925.2	NM_002166		4	134	4	134	---	---	---	---
CPSF3	51692	broad.mit.edu	37	2	9607846	9607846	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:9607846G>A	ENST00000238112.3	+	16	2003	c.1797G>A	c.(1795-1797)caG>caA	p.Q599Q	CPSF3_ENST00000489403.1_3'UTR|CPSF3_ENST00000460593.1_Silent_p.Q562Q	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	599					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.Q599Q(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GTGCAGTACAGAAGGTTTCTA	0.353																																					Colon(194;1259 2048 3845 5218 19985)	uc002qzo.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(1795-1797)CAG>CAA		cleavage and polyadenylation specific factor 3,							70.0	70.0	70.0					2																	9607846		2203	4300	6503	SO:0001819	synonymous_variant	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9607846G>A	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1797G>A	2.37:g.9607846G>A						CPSF3_uc002qzp.1_Silent_p.Q562Q|CPSF3_uc002qzq.1_Silent_p.Q176Q	p.Q599Q	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	16	1832	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	599					O14769|Q53RS2|Q96F36	Silent	SNP	ENST00000238112.3	37	c.1797G>A	CCDS1664.1																																																																																				PASS	0.353	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		4	142	4	142	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11741049	11741049	+	Silent	SNP	G	G	A	rs532106359		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:11741049G>A	ENST00000381486.2	+	16	2757	c.2457G>A	c.(2455-2457)ccG>ccA	p.P819P	GREB1_ENST00000234142.5_Silent_p.P819P	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	819						integral component of membrane (GO:0016021)		p.P819P(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCTCCTTCCCGTATGCACTGC	0.592													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17755	0.0		0.0	False		,,,				2504	0.0				Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2455-2457)CCG>CCA		growth regulation by estrogen in breast cancer 1							128.0	135.0	133.0					2																	11741049		2151	4250	6401	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11741049G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2457G>A	2.37:g.11741049G>A						GREB1_uc002rbo.1_Silent_p.P453P	p.P819P	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	16	2757	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		819					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.2457G>A	CCDS42655.1																																																																																				PASS	0.592	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		7	302	7	302	---	---	---	---
MYCN	4613	broad.mit.edu	37	2	16086030	16086030	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:16086030C>T	ENST00000281043.3	+	3	1503	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	402	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L402L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CCAGCTTTCTCACGCTCAGGG	0.587			A		neuroblastoma																																	uc002rci.2				Dom	yes		2	2p24.1	4613	A	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""			O			neuroblastoma		1	Substitution - coding silent(1)	p.L402F(1)	lung(1)	central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(1204-1206)CTC>CTT		v-myc myelocytomatosis viral related oncogene,							85.0	93.0	90.0					2																	16086030		2203	4300	6503	SO:0001819	synonymous_variant	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16086030C>T	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1206C>T	2.37:g.16086030C>T						MYCN_uc010yjr.1_Silent_p.L394L	p.L402L	NM_005378	NP_005369	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		3	1506	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		402			Helix-loop-helix motif.		Q53XS5|Q6LDT9	Silent	SNP	ENST00000281043.3	37	c.1206C>T	CCDS1687.1																																																																																				PASS	0.587	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		16	244	16	244	---	---	---	---
RAD51AP2	729475	broad.mit.edu	37	2	17698620	17698620	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:17698620T>C	ENST00000399080.2	-	1	1086	c.1063A>G	c.(1063-1065)Agt>Ggt	p.S355G		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	355								p.S355R(1)|p.S355G(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CACTGGATACTACTGCAGTTA	0.363																																						uc002rcl.1																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	ovary(1)	1						c.(1063-1065)AGT>GGT		RAD51 associated protein 2							58.0	56.0	57.0					2																	17698620		1823	4085	5908	SO:0001583	missense	729475							g.chr2:17698620T>C	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1063A>G	2.37:g.17698620T>C	ENSP00000382030:p.Ser355Gly					RAD51AP2_uc010exn.1_Missense_Mutation_p.S346G	p.S355G	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN			1	1087	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		355						Missense_Mutation	SNP	ENST00000399080.2	37	c.1063A>G	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	T	4.454	0.084141	0.08583	.	.	ENSG00000214842	ENST00000399080	T	0.29917	1.55	4.72	3.56	0.40772	.	.	.	.	.	T	0.23886	0.0578	L	0.32530	0.975	0.09310	N	1	B	0.24317	0.101	B	0.24974	0.057	T	0.22800	-1.0206	9	0.87932	D	0	-9.415	7.7372	0.28821	0.0:0.1887:0.0:0.8113	.	355	Q09MP3	R51A2_HUMAN	G	355	ENSP00000382030:S355G	ENSP00000382030:S355G	S	-	1	0	RAD51AP2	17562101	0.269000	0.24143	0.038000	0.18304	0.139000	0.21198	1.283000	0.33237	0.904000	0.36572	0.533000	0.62120	AGT		PASS	0.363	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		46	135	46	135	---	---	---	---
C2orf43	60526	broad.mit.edu	37	2	20901344	20901344	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:20901344C>T	ENST00000237822.3	-	6	851	c.772G>A	c.(772-774)Gag>Aag	p.E258K	C2orf43_ENST00000440866.2_3'UTR|C2orf43_ENST00000381090.3_Missense_Mutation_p.E258K|C2orf43_ENST00000435420.2_Missense_Mutation_p.E210K|C2orf43_ENST00000541941.1_Missense_Mutation_p.E128K|C2orf43_ENST00000403006.2_Missense_Mutation_p.E128K	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	258								p.E258K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATAAATGCTCCTTTATGGTT	0.393																																						uc002rec.2																			1	Substitution - Missense(1)		lung(1)		0						c.(772-774)GAG>AAG		hypothetical protein LOC60526							313.0	307.0	309.0					2																	20901344		2203	4300	6503	SO:0001583	missense	60526							g.chr2:20901344C>T	AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.772G>A	2.37:g.20901344C>T	ENSP00000237822:p.Glu258Lys					C2orf43_uc002rea.1_Missense_Mutation_p.E258K|C2orf43_uc002reb.1_RNA|C2orf43_uc010yka.1_3'UTR|C2orf43_uc010ykb.1_Missense_Mutation_p.E128K|C2orf43_uc010ykc.1_Missense_Mutation_p.E210K|C2orf43_uc010ykd.1_3'UTR|C2orf43_uc010yke.1_Missense_Mutation_p.E216K|C2orf43_uc010ykf.1_Missense_Mutation_p.E128K	p.E258K	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN			6	805	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		258					B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Missense_Mutation	SNP	ENST00000237822.3	37	c.772G>A	CCDS1702.1	.	.	.	.	.	.	.	.	.	.	C	1.310	-0.602553	0.03744	.	.	ENSG00000118961	ENST00000403006;ENST00000381090;ENST00000237822;ENST00000435420;ENST00000541941;ENST00000432947	T;T;T	0.38401	1.14;1.74;1.14	5.2	-1.04	0.10068	.	0.650658	0.16499	N	0.211777	T	0.21590	0.0520	L	0.41079	1.255	0.09310	N	0.999999	B;B;B;B	0.10296	0.002;0.001;0.002;0.003	B;B;B;B	0.15052	0.003;0.005;0.01;0.012	T	0.24261	-1.0165	10	0.15499	T	0.54	-3.1331	5.1956	0.15236	0.0:0.4417:0.1459:0.4125	.	216;210;258;258	B4DS38;B7ZAJ5;Q9H6V9;B5MDU6	.;.;CB043_HUMAN;.	K	128;258;258;210;128;128	ENSP00000384267:E128K;ENSP00000388635:E210K;ENSP00000440570:E128K	ENSP00000237822:E258K	E	-	1	0	C2orf43	20764825	0.003000	0.15002	0.006000	0.13384	0.652000	0.38707	-0.139000	0.10358	-0.174000	0.10743	0.655000	0.94253	GAG		PASS	0.393	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242861.1	NM_021925		29	617	29	617	---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24427169	24427169	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:24427169G>C	ENST00000355123.4	-	39	5324	c.4881C>G	c.(4879-4881)ctC>ctG	p.L1627L	AC008073.9_ENST00000429717.1_RNA|ITSN2_ENST00000361999.3_Silent_p.L1600L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1627	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.L1626L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTCTTGGTAGAGATCCTTAA	0.493																																						uc002rfe.2																			1	Substitution - coding silent(1)		lung(1)	kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(4879-4881)CTC>CTG		intersectin 2 isoform 1							136.0	132.0	133.0					2																	24427169		2203	4300	6503	SO:0001819	synonymous_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24427169G>C	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4881C>G	2.37:g.24427169G>C						ITSN2_uc002rff.2_Silent_p.L1600L	p.L1627L	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			39	5139	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1627			C2.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	c.4881C>G	CCDS1710.2																																																																																				PASS	0.493	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		8	210	8	210	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27801450	27801450	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:27801450G>C	ENST00000408964.2	+	1	2062	c.2011G>C	c.(2011-2013)Gag>Cag	p.E671Q		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	671						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.E671Q(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCTCCATTTGAGGAACATAC	0.398																																						uc002rkz.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(2011-2013)GAG>CAG		hypothetical protein LOC84226							91.0	88.0	89.0					2																	27801450		1885	4112	5997	SO:0001583	missense	84226							g.chr2:27801450G>C	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2011G>C	2.37:g.27801450G>C	ENSP00000386190:p.Glu671Gln						p.E671Q	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	2062	+	Acute lymphoblastic leukemia(172;0.155)		671					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.2011G>C	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244222	0.22796	.	.	ENSG00000221843	ENST00000408964	T	0.06528	3.29	4.27	-3.28	0.05033	.	.	.	.	.	T	0.03651	0.0104	N	0.14661	0.345	0.09310	N	1	P	0.48016	0.904	B	0.43103	0.408	T	0.36432	-0.9748	9	0.37606	T	0.19	.	5.5623	0.17150	0.5749:0.0:0.2749:0.1503	.	671	Q68DN1	CB016_HUMAN	Q	671	ENSP00000386190:E671Q	ENSP00000386190:E671Q	E	+	1	0	C2orf16	27654954	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.600000	0.05693	-0.766000	0.04639	-0.254000	0.11334	GAG		PASS	0.398	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		85	151	85	151	---	---	---	---
SLC4A1AP	22950	broad.mit.edu	37	2	27887280	27887280	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:27887280G>C	ENST00000326019.6	+	1	943	c.661G>C	c.(661-663)Gac>Cac	p.D221H	SUPT7L_ENST00000405491.1_5'Flank|SUPT7L_ENST00000337768.5_5'Flank|SUPT7L_ENST00000406540.1_5'Flank|SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000404798.2_5'Flank	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	221	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D221H(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GTCCGGCCCTGACGGAGAATG	0.607																																						uc002rlk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(661-663)GAC>CAC		solute carrier family 4 (anion exchanger),							68.0	68.0	68.0					2																	27887280		2203	4300	6503	SO:0001583	missense	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27887280G>C		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.661G>C	2.37:g.27887280G>C	ENSP00000323837:p.Asp221His					SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank	p.D221H	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN			1	943	+	Acute lymphoblastic leukemia(172;0.155)		221			FHA.		A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	c.661G>C	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148438	0.37923	.	.	ENSG00000163798	ENST00000326019	T	0.36340	1.26	4.51	3.62	0.41486	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.735828	0.13856	N	0.358029	T	0.38134	0.1029	N	0.22421	0.69	0.18873	N	0.999986	P	0.45428	0.858	P	0.57101	0.813	T	0.12293	-1.0553	10	0.59425	D	0.04	-1.5509	7.5263	0.27658	0.1196:0.0:0.8804:0.0	.	221	Q9BWU0	NADAP_HUMAN	H	221	ENSP00000323837:D221H	ENSP00000323837:D221H	D	+	1	0	SLC4A1AP	27740784	0.998000	0.40836	0.005000	0.12908	0.058000	0.15608	3.625000	0.54238	1.076000	0.40961	0.555000	0.69702	GAC		PASS	0.607	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		7	132	7	132	---	---	---	---
PLB1	151056	broad.mit.edu	37	2	28762018	28762018	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:28762018C>T	ENST00000327757.5	+	11	715	c.671C>T	c.(670-672)tCt>tTt	p.S224F	PLB1_ENST00000422425.2_Missense_Mutation_p.S235F	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	224	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.S224F(1)|p.S235F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GCAGAGGTCTCTCGTCAGTAT	0.562																																						uc002rmb.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(670-672)TCT>TTT		phospholipase B1 precursor							118.0	99.0	105.0					2																	28762018		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28762018C>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.671C>T	2.37:g.28762018C>T	ENSP00000330442:p.Ser224Phe					PLB1_uc010ezj.1_Missense_Mutation_p.S235F	p.S224F	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			11	671	+	Acute lymphoblastic leukemia(172;0.155)		224			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.671C>T	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.77|14.77	2.633922|2.633922	0.47049|0.47049	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000416713;ENST00000327757;ENST00000422425	.|T;T;T	.|0.23552	.|1.9;2.67;2.65	5.46|5.46	3.62|3.62	0.41486|0.41486	.|.	.|0.799942	.|0.11267	.|N	.|0.581881	T|T	0.17195|0.17195	0.0413|0.0413	L|L	0.33137|0.33137	0.985|0.985	0.18873|0.18873	N|N	0.999982|0.999982	.|B;B	.|0.24721	.|0.11;0.105	.|B;B	.|0.24701	.|0.055;0.05	T|T	0.31308|0.31308	-0.9948|-0.9948	5|10	.|0.10377	.|T	.|0.69	-3.4657|-3.4657	7.4502|7.4502	0.27234|0.27234	0.163:0.7496:0.0:0.0874|0.163:0.7496:0.0:0.0874	.|.	.|235;224	.|Q6P1J6-3;Q6P1J6	.|.;PLB1_HUMAN	F|F	234|179;224;235	.|ENSP00000407076:S179F;ENSP00000330442:S224F;ENSP00000416440:S235F	.|ENSP00000330442:S224F	L|S	+|+	1|2	0|0	PLB1|PLB1	28615522|28615522	0.001000|0.001000	0.12720|0.12720	0.003000|0.003000	0.11579|0.11579	0.032000|0.032000	0.12392|0.12392	0.788000|0.788000	0.26872|0.26872	1.286000|1.286000	0.44565|0.44565	0.591000|0.591000	0.81541|0.81541	CTC|TCT		PASS	0.562	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			26	101	26	101	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32673984	32673984	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:32673984G>T	ENST00000421745.2	+	22	4740	c.4606G>T	c.(4606-4608)Gat>Tat	p.D1536Y		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1536					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.D1536Y(1)|p.D1508Y(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)					TGATTTATCAGATGTCCTTTC	0.328																																					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.(4606-4608)GAT>TAT		baculoviral IAP repeat-containing 6							112.0	116.0	115.0					2																	32673984		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32673984G>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.4606G>T	2.37:g.32673984G>T	ENSP00000393596:p.Asp1536Tyr						p.D1536Y	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			22	4740	+	Acute lymphoblastic leukemia(172;0.155)		1536					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.4606G>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553778	0.86231	.	.	ENSG00000115760	ENST00000421745	T	0.76709	-1.04	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.85115	0.5623	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	D	0.65573	0.936	D	0.86192	0.1613	10	0.72032	D	0.01	.	17.5204	0.87786	0.0:0.0:1.0:0.0	.	1536	Q9NR09	BIRC6_HUMAN	Y	1536	ENSP00000393596:D1536Y	ENSP00000393596:D1536Y	D	+	1	0	BIRC6	32527488	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.754000	0.98908	2.633000	0.89246	0.585000	0.79938	GAT		PASS	0.328	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		51	99	51	99	---	---	---	---
SLC3A1	6519	broad.mit.edu	37	2	44547706	44547706	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:44547706C>T	ENST00000260649.6	+	10	2062	c.1986C>T	c.(1984-1986)ttC>ttT	p.F662F	PREPL_ENST00000409936.1_3'UTR|SLC3A1_ENST00000409740.3_Silent_p.F293F|PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000409957.1_3'UTR|SLC3A1_ENST00000409380.1_Silent_p.F384F	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	662					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)	p.F662F(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AAACAGCTTTCAGAGATAGAT	0.423																																						uc002ruc.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1984-1986)TTC>TTT		solute carrier family 3, member 1	L-Cystine(DB00138)						94.0	79.0	84.0					2																	44547706		2203	4300	6503	SO:0001819	synonymous_variant	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44547706C>T		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.1986C>T	2.37:g.44547706C>T						PREPL_uc002ruf.2_3'UTR|PREPL_uc002rug.2_3'UTR|PREPL_uc002ruh.2_3'UTR|PREPL_uc010fax.2_3'UTR|PREPL_uc002rui.3_3'UTR|PREPL_uc002ruj.1_3'UTR|PREPL_uc002ruk.1_3'UTR|SLC3A1_uc002rud.3_Silent_p.F384F|SLC3A1_uc002rue.3_Silent_p.F282F	p.F662F	NM_000341	NP_000332	Q07837	SLC31_HUMAN			10	2064	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	662			Extracellular (Potential).		A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Silent	SNP	ENST00000260649.6	37	c.1986C>T	CCDS1819.1																																																																																				PASS	0.423	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		13	234	13	234	---	---	---	---
MSH6	2956	broad.mit.edu	37	2	48018263	48018263	+	Splice_Site	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:48018263G>T	ENST00000234420.5	+	2	609		c.e2+1		MSH6_ENST00000540021.1_Intron|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Splice_Site	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.?(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCATATACAGGTAAGAGTCAC	0.428			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc002rwd.3			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	Mis|N|F|S	mutS homolog 6 (E. coli)			E		colorectal|endometrial|ovarian	colorectal		3	Whole gene deletion(2)|Unknown(1)		haematopoietic_and_lymphoid_tissue(2)|lung(1)	large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168						c.e2+1	MMR	mutS homolog 6							62.0	66.0	65.0					2																	48018263		2203	4300	6503	SO:0001630	splice_region_variant	2956	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48018263G>T	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.457+1G>T	2.37:g.48018263G>T						MSH6_uc002rwc.2_Splice_Site_p.G153_splice|MSH6_uc010fbj.2_Splice_Site|MSH6_uc010yoi.1_Intron|MSH6_uc010yoj.1_Splice_Site	p.G153_splice	NM_000179	NP_000170	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		2	609	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)						B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Splice_Site	SNP	ENST00000234420.5	37	c.457_splice	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647934	0.67358	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000446255;ENST00000455383;ENST00000420813;ENST00000411819	.	.	.	5.33	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3958	0.67010	0.0715:0.0:0.9285:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MSH6	47871767	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	9.310000	0.96267	1.367000	0.46095	0.557000	0.71058	.		PASS	0.428	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	Intron	7	128	7	128	---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48059968	48059968	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:48059968C>T	ENST00000403359.3	-	9	1165	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	FBXO11_ENST00000434523.2_5'Flank|FBXO11_ENST00000316377.4_Missense_Mutation_p.E281K|FBXO11_ENST00000402508.1_Missense_Mutation_p.E281K	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	365					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)|p.E281K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACTGTAATCTCTAAGCAGTGG	0.313			"""Mis, F, D"""		DLBCL																																	uc010fbl.2				Rec	yes		2	2p16.3	80204		F-box protein 11			L					3	Whole gene deletion(2)|Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(2)|lung(1)	ovary(1)|lung(1)	2						c.(841-843)GAG>AAG		F-box only protein 11 isoform 1							170.0	157.0	161.0					2																	48059968		2203	4300	6503	SO:0001583	missense	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48059968C>T	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1093G>A	2.37:g.48059968C>T	ENSP00000384823:p.Glu365Lys					FBXO11_uc002rwe.2_Missense_Mutation_p.E281K|FBXO11_uc002rwf.2_Missense_Mutation_p.E281K|FBXO11_uc002rwg.1_Missense_Mutation_p.E281K|FBXO11_uc010fbk.2_5'Flank	p.E281K	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	955	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	365					A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	c.841G>A	CCDS54357.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.483651|4.483651	0.84854|0.84854	.|.	.|.	ENSG00000138081|ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377|ENST00000493962	T;T;T|.	0.46819|.	0.86;1.02;0.86|.	5.97|5.97	5.97|5.97	0.96955|0.96955	Pectin lyase fold/virulence factor (1);F-box domain, Skp2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75117|0.75117	0.3806|0.3806	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	P|.	0.44776|.	0.843|.	P|.	0.61722|.	0.893|.	T|T	0.70659|0.70659	-0.4811|-0.4811	10|5	0.48119|.	T|.	0.1|.	-2.9142|-2.9142	20.4324|20.4324	0.99085|0.99085	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	365|.	Q86XK2|.	FBX11_HUMAN|.	K|K	281;365;281|156	ENSP00000385398:E281K;ENSP00000384823:E365K;ENSP00000323822:E281K|.	ENSP00000323822:E281K|.	E|R	-|-	1|2	0|0	FBXO11|FBXO11	47913472|47913472	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.818000|7.818000	0.86416|0.86416	2.833000|2.833000	0.97629|0.97629	0.585000|0.585000	0.79938|0.79938	GAG|AGA		PASS	0.313	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		99	228	99	228	---	---	---	---
PPP1R21	129285	broad.mit.edu	37	2	48687003	48687003	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:48687003C>T	ENST00000294952.8	+	5	643	c.486C>T	c.(484-486)acC>acT	p.T162T	PPP1R21_ENST00000449090.2_Silent_p.T162T|PPP1R21_ENST00000281394.4_Silent_p.T162T	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	162						membrane (GO:0016020)	phosphatase binding (GO:0019902)	p.T162T(2)		endometrium(2)|kidney(4)|lung(9)	15						ACGGTCTCACCCGGAAGTACA	0.502																																						uc002rwm.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(484-486)ACC>ACT		KLRAQ motif containing 1 isoform 1							78.0	73.0	75.0					2																	48687003		2203	4300	6503	SO:0001819	synonymous_variant	129285							g.chr2:48687003C>T	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.486C>T	2.37:g.48687003C>T						KLRAQ1_uc002rwi.1_Silent_p.T162T|KLRAQ1_uc002rwj.2_Silent_p.T162T|KLRAQ1_uc002rwl.2_Silent_p.T116T|KLRAQ1_uc002rwk.2_Silent_p.T162T|KLRAQ1_uc010yok.1_Silent_p.T162T	p.T162T	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN			5	671	+			162			Potential.		B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Silent	SNP	ENST00000294952.8	37	c.486C>T	CCDS46278.1																																																																																				PASS	0.502	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		14	69	14	69	---	---	---	---
BCL11A	53335	broad.mit.edu	37	2	60679701	60679701	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:60679701C>T	ENST00000359629.5	-	5	1027	c.731G>A	c.(730-732)tGa>tAa	p.*244*	BCL11A_ENST00000356842.4_3'UTR|BCL11A_ENST00000538214.1_Silent_p.*794*|BCL11A_ENST00000537768.1_3'UTR	NM_138559.1	NP_612569.1	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	0					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|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 negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.*244*(1)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTGGGGGCTTCAAATTTTCTC	0.542			T	IGH@	B-CLL																																	uc010ypj.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		1	Substitution - coding silent(1)		lung(1)	central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(2380-2382)TGA>TAA		B-cell CLL/lymphoma 11A isoform 1							66.0	72.0	70.0					2																	60679701		2203	4300	6503	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60679701C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000359629.5:c.731G>A	2.37:g.60679701C>T						BCL11A_uc002sab.2_3'UTR|BCL11A_uc002sac.2_Silent_p.*244*|BCL11A_uc010ypi.1_3'UTR	p.*794*	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2609	-			794					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000359629.5	37	c.2381G>A	CCDS46295.1																																																																																				PASS	0.542	BCL11A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325349.2	NM_022893		8	153	8	153	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61561087	61561087	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:61561087G>A	ENST00000398571.2	-	19	2840	c.2764C>T	c.(2764-2766)Cgt>Tgt	p.R922C		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	922					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R922C(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GGAAGAAGACGAAGTGAAATT	0.274																																						uc002sbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(2764-2766)CGT>TGT		ubiquitin specific protease 34							50.0	47.0	48.0					2																	61561087		1821	4063	5884	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61561087G>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2764C>T	2.37:g.61561087G>A	ENSP00000381577:p.Arg922Cys						p.R922C	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		19	2786	-			922					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.2764C>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005551	0.93287	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.05319	3.46	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.10121	0.0248	L	0.52573	1.65	0.80722	D	1	P	0.48834	0.916	B	0.39876	0.312	T	0.01309	-1.1389	10	0.87932	D	0	.	20.1634	0.98142	0.0:0.0:1.0:0.0	.	922	Q70CQ2	UBP34_HUMAN	C	770;770;922	ENSP00000381577:R922C	ENSP00000263989:R770C	R	-	1	0	USP34	61414591	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.624000	0.98398	2.773000	0.95371	0.655000	0.94253	CGT		PASS	0.274	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			7	70	7	70	---	---	---	---
EHBP1	23301	broad.mit.edu	37	2	63091897	63091897	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:63091897A>T	ENST00000263991.5	+	10	1376	c.894A>T	c.(892-894)aaA>aaT	p.K298N	EHBP1_ENST00000405015.3_Missense_Mutation_p.K263N|EHBP1_ENST00000354487.3_Missense_Mutation_p.K263N|EHBP1_ENST00000405289.1_Missense_Mutation_p.K263N|EHBP1_ENST00000431489.1_Missense_Mutation_p.K263N	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	298						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.K298N(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CACCTAGAAAAACAGAAGACT	0.328																																						uc002sby.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(892-894)AAA>AAT		EH domain binding protein 1 isoform 1							65.0	74.0	71.0					2																	63091897		2200	4299	6499	SO:0001583	missense	23301	Hereditary_Prostate_Cancer				cytoplasm|membrane		g.chr2:63091897A>T	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.894A>T	2.37:g.63091897A>T	ENSP00000263991:p.Lys298Asn					EHBP1_uc010fcp.2_Missense_Mutation_p.K263N|EHBP1_uc002sbx.2_Missense_Mutation_p.K263N|EHBP1_uc002sbz.2_Missense_Mutation_p.K263N|EHBP1_uc002scb.2_Missense_Mutation_p.K263N	p.K298N	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		10	1376	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		298					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.894A>T	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.516639	0.27123	.	.	ENSG00000115504	ENST00000405015;ENST00000405482;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T;T	0.74947	-0.88;0.78;-0.88;-0.89;-0.86;-0.86	5.54	0.366	0.16136	.	0.176217	0.50627	D	0.000113	T	0.69531	0.3121	L	0.56769	1.78	0.21220	N	0.999757	P;P;B	0.49253	0.921;0.827;0.145	P;B;B	0.48141	0.568;0.346;0.127	T	0.62124	-0.6920	10	0.62326	D	0.03	.	4.8887	0.13715	0.4576:0.0:0.3975:0.1449	.	263;263;298	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	N	263;263;263;298;263;263	ENSP00000384143:K263N;ENSP00000384829:K263N;ENSP00000403783:K263N;ENSP00000263991:K298N;ENSP00000346482:K263N;ENSP00000385524:K263N	ENSP00000263991:K298N	K	+	3	2	EHBP1	62945401	0.795000	0.28851	0.121000	0.21740	0.507000	0.33981	1.460000	0.35244	0.104000	0.17725	0.455000	0.32223	AAA		PASS	0.328	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		7	255	7	255	---	---	---	---
VPS54	51542	broad.mit.edu	37	2	64126700	64126700	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:64126700G>A	ENST00000272322.4	-	21	2795	c.2641C>T	c.(2641-2643)Cct>Tct	p.P881S	VPS54_ENST00000354504.3_Missense_Mutation_p.P728S|VPS54_ENST00000409558.4_Missense_Mutation_p.P869S			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	881					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)		p.P881S(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GAAGGAACAGGAGCCTTCACT	0.378																																						uc002scq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2641-2643)CCT>TCT		vacuolar protein sorting 54 isoform 1							104.0	104.0	104.0					2																	64126700		2203	4300	6503	SO:0001583	missense	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64126700G>A	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.2641C>T	2.37:g.64126700G>A	ENSP00000272322:p.Pro881Ser					VPS54_uc002scp.2_Missense_Mutation_p.P869S|VPS54_uc002scn.2_Missense_Mutation_p.P43S|VPS54_uc002sco.2_Missense_Mutation_p.P366S|VPS54_uc010fct.2_Missense_Mutation_p.P728S	p.P881S	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN			21	2804	-			881					Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	ENST00000272322.4	37	c.2641C>T	CCDS33208.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932633	0.92458	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.35973	1.28;1.32;1.31	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	L	0.49350	1.555	0.80722	D	1	D;P;D	0.89917	1.0;0.928;0.957	D;P;P	0.97110	1.0;0.791;0.897	T	0.47249	-0.9132	10	0.35671	T	0.21	.	19.6762	0.95934	0.0:0.0:1.0:0.0	.	728;881;869	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	S	728;881;869;869;881	ENSP00000346499:P728S;ENSP00000272322:P881S;ENSP00000386980:P869S	ENSP00000272322:P881S	P	-	1	0	VPS54	63980204	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.337000	0.96545	2.729000	0.93468	0.591000	0.81541	CCT		PASS	0.378	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		51	144	51	144	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71753403	71753403	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:71753403C>G	ENST00000258104.3	+	12	1384	c.1107C>G	c.(1105-1107)ctC>ctG	p.L369L	DYSF_ENST00000394120.2_Silent_p.L370L|DYSF_ENST00000409651.1_Silent_p.L401L|DYSF_ENST00000410020.3_Silent_p.L401L|DYSF_ENST00000429174.2_Silent_p.L369L|DYSF_ENST00000410041.1_Silent_p.L401L|DYSF_ENST00000409762.1_Silent_p.L400L|DYSF_ENST00000409366.1_Silent_p.L370L|DYSF_ENST00000409582.3_Silent_p.L400L|DYSF_ENST00000413539.2_Silent_p.L400L|DYSF_ENST00000409744.1_Silent_p.L370L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	369	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.L369L(1)|p.L401L(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCAACCTGCTCCGGCCCACAG	0.592																																						uc002sie.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(1105-1107)CTC>CTG		dysferlin isoform 8							145.0	157.0	153.0					2																	71753403		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71753403C>G	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1107C>G	2.37:g.71753403C>G						DYSF_uc010feg.2_Silent_p.L400L|DYSF_uc010feh.2_Silent_p.L369L|DYSF_uc002sig.3_Silent_p.L369L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.L369L|DYSF_uc010fef.2_Silent_p.L400L|DYSF_uc010fei.2_Silent_p.L400L|DYSF_uc010fek.2_Silent_p.L401L|DYSF_uc010fej.2_Silent_p.L370L|DYSF_uc010fel.2_Silent_p.L370L|DYSF_uc010feo.2_Silent_p.L401L|DYSF_uc010fem.2_Silent_p.L370L|DYSF_uc010fen.2_Silent_p.L401L|DYSF_uc002sif.2_Silent_p.L370L	p.L369L	NM_003494	NP_003485	O75923	DYSF_HUMAN			12	1483	+			369			Cytoplasmic (Potential).|C2 3.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.1107C>G	CCDS1918.1																																																																																				PASS	0.592	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		90	342	90	342	---	---	---	---
EXOC6B	23233	broad.mit.edu	37	2	72968457	72968457	+	Silent	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:72968457C>A	ENST00000272427.6	-	2	385	c.255G>T	c.(253-255)gtG>gtT	p.V85V	EXOC6B_ENST00000410104.1_Silent_p.V85V	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	85					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)		p.V85V(1)		breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CTTCTCCTCTCACTTTCAGCA	0.408																																						uc010fep.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(253-255)GTG>GTT		SEC15-like 2							179.0	171.0	173.0					2																	72968457		1847	4096	5943	SO:0001819	synonymous_variant	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72968457C>A	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.255G>T	2.37:g.72968457C>A						EXOC6B_uc002sij.2_Silent_p.V85V	p.V85V	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN			2	393	-			85			Potential.		B8ZZY3	Silent	SNP	ENST00000272427.6	37	c.255G>T	CCDS46333.1																																																																																				PASS	0.408	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		17	396	17	396	---	---	---	---
SMYD5	10322	broad.mit.edu	37	2	73453006	73453006	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:73453006G>T	ENST00000389501.4	+	13	1234	c.1189G>T	c.(1189-1191)Gaa>Taa	p.E397*	PRADC1_ENST00000480093.1_5'Flank	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	397	Glu-rich.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.E397*(1)|p.E281*(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						agaggaagaggaagaggagga	0.557																																						uc002siw.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(1189-1191)GAA>TAA		SMYD family member 5							103.0	99.0	101.0					2																	73453006		2203	4300	6503	SO:0001587	stop_gained	10322						metal ion binding	g.chr2:73453006G>T	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.1189G>T	2.37:g.73453006G>T	ENSP00000374152:p.Glu397*					SMYD5_uc010yre.1_Nonsense_Mutation_p.E281*|SMYD5_uc002six.1_RNA	p.E397*	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN			13	1218	+			397			Glu-rich.		D6W5H3|Q13558	Nonsense_Mutation	SNP	ENST00000389501.4	37	c.1189G>T	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155624	0.78114	.	.	ENSG00000135632	ENST00000389501	.	.	.	4.73	4.73	0.59995	.	0.216830	0.36409	N	0.002619	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-6.2986	15.6015	0.76628	0.0:0.0:1.0:0.0	.	.	.	.	X	397	.	ENSP00000374152:E397X	E	+	1	0	SMYD5	73306514	1.000000	0.71417	0.862000	0.33874	0.708000	0.40852	9.152000	0.94680	2.638000	0.89438	0.655000	0.94253	GAA		PASS	0.557	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		56	204	56	204	---	---	---	---
PRADC1	84279	broad.mit.edu	37	2	73456653	73456653	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:73456653C>G	ENST00000258083.2	-	3	281	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	PRADC1_ENST00000480093.1_5'UTR	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	72						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)		p.E72Q(1)		endometrium(1)|large_intestine(1)|lung(2)	4						CCGCAGGCCTCTGGAGGTTCA	0.532																																						uc002siy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(214-216)GAG>CAG		chromosome 2 open reading frame 7 precursor							100.0	100.0	100.0					2																	73456653		2203	4300	6503	SO:0001583	missense	84279					extracellular region		g.chr2:73456653C>G	BC005069	CCDS1924.1	2p13.2	2012-10-31	2011-04-15	2011-04-15	ENSG00000135617	ENSG00000135617			16047	protein-coding gene	gene with protein product	"""protease-associated domain-containing glycoprotein 21 kDa"""		"""chromosome 2 open reading frame 7"""	C2orf7		15498570	Standard	NM_032319		Approved	MGC13004, PAP21, hPAP21	uc002siy.3	Q9BSG0	OTTHUMG00000129773	ENST00000258083.2:c.214G>C	2.37:g.73456653C>G	ENSP00000258083:p.Glu72Gln						p.E72Q	NM_032319	NP_115695	Q9BSG0	PADC1_HUMAN			3	282	-			72					Q2Z1P2	Missense_Mutation	SNP	ENST00000258083.2	37	c.214G>C	CCDS1924.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304806	0.40795	.	.	ENSG00000135617	ENST00000258083	T	0.06933	3.24	4.98	4.98	0.66077	Protease-associated domain, PA (1);	0.058555	0.64402	D	0.000003	T	0.07279	0.0184	N	0.19112	0.55	0.53005	D	0.999964	B	0.24618	0.107	B	0.23716	0.048	T	0.39522	-0.9610	10	0.29301	T	0.29	-15.7114	17.3441	0.87305	0.0:1.0:0.0:0.0	.	72	Q9BSG0	PADC1_HUMAN	Q	72	ENSP00000258083:E72Q	ENSP00000258083:E72Q	E	-	1	0	PRADC1	73310161	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.952000	0.70282	2.753000	0.94483	0.655000	0.94253	GAG		PASS	0.532	PRADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251989.1	NM_032319		6	225	6	225	---	---	---	---
C2orf78	388960	broad.mit.edu	37	2	74043401	74043401	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:74043401C>A	ENST00000409561.1	+	3	2172	c.2051C>A	c.(2050-2052)cCg>cAg	p.P684Q		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	684								p.P684Q(1)|p.P654Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GGTAAAGGCCCGGAGAAAATT	0.517																																						uc002sjr.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2050-2052)CCG>CAG		hypothetical protein LOC388960							54.0	55.0	55.0					2																	74043401		1880	4108	5988	SO:0001583	missense	388960							g.chr2:74043401C>A	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2051C>A	2.37:g.74043401C>A	ENSP00000387124:p.Pro684Gln						p.P684Q	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			3	2172	+			684						Missense_Mutation	SNP	ENST00000409561.1	37	c.2051C>A	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	C	9.266	1.044504	0.19748	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.58358	0.34	4.99	2.15	0.27550	.	0.146929	0.31542	N	0.007477	T	0.65228	0.2671	M	0.77103	2.36	0.09310	N	1	D	0.76494	0.999	D	0.68483	0.958	T	0.55811	-0.8082	10	0.72032	D	0.01	-1.0769	4.5203	0.11956	0.1757:0.6365:0.0:0.1878	.	684	A6NCI8	CB078_HUMAN	Q	684;654	ENSP00000387124:P684Q	ENSP00000340692:P654Q	P	+	2	0	C2orf78	73896909	0.007000	0.16637	0.001000	0.08648	0.002000	0.02628	1.662000	0.37418	0.227000	0.20999	-0.244000	0.11960	CCG		PASS	0.517	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		31	89	31	89	---	---	---	---
MOGS	7841	broad.mit.edu	37	2	74690051	74690051	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:74690051G>A	ENST00000233616.4	-	4	1027	c.865C>T	c.(865-867)Ccc>Tcc	p.P289S	MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.P183S|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000535045.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	289					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)	p.P289S(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GCCCCTGGGGGCCGATGCTGA	0.587																																						uc010ffj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(865-867)CCC>TCC		mannosyl-oligosaccharide glucosidase isoform 1							112.0	120.0	118.0					2																	74690051		1960	4157	6117	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74690051G>A	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.865C>T	2.37:g.74690051G>A	ENSP00000233616:p.Pro289Ser					MOGS_uc010ffh.2_Missense_Mutation_p.P14S|MOGS_uc010yrt.1_Missense_Mutation_p.P170S|MOGS_uc010ffi.2_Missense_Mutation_p.P183S|MOGS_uc010yru.1_3'UTR	p.P289S	NM_006302	NP_006293	Q13724	MOGS_HUMAN			4	1028	-			289			Lumenal (Potential).		A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.865C>T	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376070	0.24857	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000448666	T;T;T	0.35605	1.3;1.3;1.3	4.85	3.98	0.46160	.	0.058939	0.64402	D	0.000002	T	0.36853	0.0982	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.15954	-1.0419	10	0.08837	T	0.75	-17.2489	9.1295	0.36837	0.0983:0.0:0.9017:0.0	.	289	Q13724	MOGS_HUMAN	S	289;183;183	ENSP00000233616:P289S;ENSP00000388201:P183S;ENSP00000410992:P183S	ENSP00000233616:P289S	P	-	1	0	MOGS	74543559	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	3.371000	0.52379	1.273000	0.44346	-0.137000	0.14449	CCC		PASS	0.587	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		18	442	18	442	---	---	---	---
SEMA4F	10505	broad.mit.edu	37	2	74902690	74902690	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:74902690C>G	ENST00000357877.2	+	11	1560	c.1411C>G	c.(1411-1413)Cag>Gag	p.Q471E	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.Q316E	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	471	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.Q471E(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GATCGGAGCTCAGCTCAGCGT	0.498																																						uc002sna.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1411-1413)CAG>GAG		semaphorin W precursor							129.0	119.0	123.0					2																	74902690		2203	4300	6503	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74902690C>G	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1411C>G	2.37:g.74902690C>G	ENSP00000350547:p.Gln471Glu					SEMA4F_uc010ffq.1_Missense_Mutation_p.Q438E|SEMA4F_uc010ffr.1_Missense_Mutation_p.Q83E|SEMA4F_uc002snb.1_Missense_Mutation_p.Q83E|SEMA4F_uc002snc.1_Missense_Mutation_p.Q316E	p.Q471E	NM_004263	NP_004254	O95754	SEM4F_HUMAN			11	1522	+			471			Sema.|Extracellular (Potential).		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.1411C>G	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.388433	0.00202	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.09445	2.98;2.98	4.5	3.59	0.41128	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.203878	0.24323	U	0.039537	T	0.04861	0.0131	N	0.11131	0.1	0.31652	N	0.646718	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.29549	-1.0008	10	0.02654	T	1	.	11.2588	0.49069	0.2057:0.7943:0.0:0.0	.	316;471	O95754-2;O95754	.;SEM4F_HUMAN	E	471;316	ENSP00000350547:Q471E;ENSP00000342675:Q316E	ENSP00000342675:Q316E	Q	+	1	0	SEMA4F	74756198	0.000000	0.05858	0.996000	0.52242	0.049000	0.14656	-0.008000	0.12788	1.034000	0.39945	0.467000	0.42956	CAG		PASS	0.498	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		57	184	57	184	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80136780	80136780	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:80136780G>A	ENST00000402739.4	+	6	918	c.913G>A	c.(913-915)Gag>Aag	p.E305K	CTNNA2_ENST00000466387.1_Missense_Mutation_p.E305K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E339K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E305K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.E305K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E305K	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	305					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.E305K(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTCCCTGGAGGAGAGGCTGGA	0.597																																						uc010ysh.1																			2	Substitution - Missense(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(913-915)GAG>AAG		catenin, alpha 2 isoform 1							60.0	65.0	63.0					2																	80136780		1993	4186	6179	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80136780G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.913G>A	2.37:g.80136780G>A	ENSP00000384638:p.Glu305Lys					CTNNA2_uc010yse.1_Missense_Mutation_p.E305K|CTNNA2_uc010ysf.1_Missense_Mutation_p.E305K|CTNNA2_uc010ysg.1_Missense_Mutation_p.E305K	p.E305K	NM_004389	NP_004380	P26232	CTNA2_HUMAN			6	918	+			305					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.913G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.147997	0.94603	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.73430	2.235	0.80722	D	1	D;B;B	0.64830	0.994;0.296;0.296	D;B;B	0.73380	0.98;0.101;0.192	T	0.52756	-0.8533	10	0.14656	T	0.56	.	19.6081	0.95588	0.0:0.0:1.0:0.0	.	305;305;305	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	K	305;305;339;305;305;305	ENSP00000418191:E305K;ENSP00000419295:E305K;ENSP00000355398:E339K;ENSP00000384638:E305K;ENSP00000444675:E305K;ENSP00000441705:E305K	ENSP00000355398:E339K	E	+	1	0	CTNNA2	79990288	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.860000	0.99555	2.652000	0.90054	0.591000	0.81541	GAG		PASS	0.597	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		40	128	40	128	---	---	---	---
TEKT4	150483	broad.mit.edu	37	2	95539782	95539782	+	Missense_Mutation	SNP	G	G	C	rs143585686		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:95539782G>C	ENST00000295201.4	+	3	779	c.642G>C	c.(640-642)gaG>gaC	p.E214D	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	214					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.E214D(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						ACATCGACGAGACCTGCGGGC	0.642																																						uc002stw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(640-642)GAG>GAC		tektin 4		G	ASP/GLU	1,4405		0,1,2202	85.0	82.0	83.0		642	1.2	1.0	2	dbSNP_134	83	0,8600		0,0,4300	no	missense	TEKT4	NM_144705.2	45	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	benign	214/436	95539782	1,13005	2203	4300	6503	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95539782G>C	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.642G>C	2.37:g.95539782G>C	ENSP00000295201:p.Glu214Asp					uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	p.E214D	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN			3	735	+			214						Missense_Mutation	SNP	ENST00000295201.4	37	c.642G>C	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.070890	0.00379	2.27E-4	0.0	ENSG00000163060	ENST00000295201	T	0.02472	4.28	2.24	1.21	0.21127	.	0.754909	0.12447	N	0.468112	T	0.01092	0.0036	N	0.01771	-0.73	0.58432	D	0.999999	B	0.02656	0.0	B	0.09377	0.004	T	0.47058	-0.9146	10	0.02654	T	1	-7.8011	7.9339	0.29918	0.0:0.5028:0.4972:0.0	.	214	Q8WW24	TEKT4_HUMAN	D	214	ENSP00000295201:E214D	ENSP00000295201:E214D	E	+	3	2	TEKT4	94903509	0.158000	0.22850	0.982000	0.44146	0.115000	0.19883	-0.049000	0.11924	-0.001000	0.14495	0.306000	0.20318	GAG		PASS	0.642	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		31	104	31	104	---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98866858	98866858	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:98866858C>G	ENST00000477737.1	+	20	2955	c.2751C>G	c.(2749-2751)atC>atG	p.I917M	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	917								p.I917M(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AACTCAATATCTACAAGCGAA	0.403																																						uc002syo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(1)	6						c.(2749-2751)ATC>ATG		von Willebrand factor A domain containing 3B							137.0	131.0	133.0					2																	98866858		1869	4102	5971	SO:0001583	missense	200403							g.chr2:98866858C>G	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2751C>G	2.37:g.98866858C>G	ENSP00000417955:p.Ile917Met					VWA3B_uc002sym.2_Missense_Mutation_p.I917M|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.I574M|VWA3B_uc002syp.1_Missense_Mutation_p.I309M|VWA3B_uc002syq.1_Missense_Mutation_p.I193M|VWA3B_uc002syr.1_Missense_Mutation_p.I234M|VWA3B_uc010fii.1_RNA|VWA3B_uc002sys.2_RNA	p.I917M	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			20	3015	+			917					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2751C>G	CCDS42718.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	11.76|11.76|11.76	1.733974|1.733974|1.733974	0.30684|0.30684|0.30684	.|.|.	.|.|.	ENSG00000168658|ENSG00000168658|ENSG00000168658	ENST00000477737;ENST00000358269|ENST00000473149|ENST00000465555	T|.|.	0.05717|.|.	3.4|.|.	4.63|4.63|4.63	2.83|2.83|2.83	0.33086|0.33086|0.33086	.|.|.	1.232100|.|.	0.05608|.|.	N|.|.	0.577508|.|.	T|T|T	0.55337|0.55337|0.55337	0.1914|0.1914|0.1914	L|L|L	0.51422|0.51422|0.51422	1.61|1.61|1.61	0.80722|0.80722|0.80722	D|D|D	1|1|1	P;P;P|.|.	0.47191|.|.	0.834;0.727;0.891|.|.	P;B;P|.|.	0.45474|.|.	0.482;0.283;0.475|.|.	T|T|T	0.48222|0.48222|0.48222	-0.9054|-0.9054|-0.9054	10|5|5	0.54805|.|.	T|.|.	0.06|.|.	.|.|.	7.157|7.157|7.157	0.25643|0.25643|0.25643	0.0:0.7959:0.0:0.2041|0.0:0.7959:0.0:0.2041|0.0:0.7959:0.0:0.2041	.|.|.	309;917;917|.|.	Q502W6-5;Q502W6;Q502W6-8|.|.	.;VWA3B_HUMAN;.|.|.	M|V|C	917;39|328|73	ENSP00000417955:I917M|.|.	ENSP00000351009:I39M|.|.	I|L|S	+|+|+	3|1|2	3|2|0	VWA3B|VWA3B|VWA3B	98233290|98233290|98233290	0.370000|0.370000|0.370000	0.25047|0.25047|0.25047	0.926000|0.926000|0.926000	0.36857|0.36857|0.36857	0.896000|0.896000|0.896000	0.52359|0.52359|0.52359	0.588000|0.588000|0.588000	0.23924|0.23924|0.23924	0.677000|0.677000|0.677000	0.31305|0.31305|0.31305	-0.145000|-0.145000|-0.145000	0.13849|0.13849|0.13849	ATC|CTA|TCT		PASS	0.403	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		57	135	57	135	---	---	---	---
CREG2	200407	broad.mit.edu	37	2	101967465	101967465	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:101967465T>C	ENST00000324768.5	-	4	930	c.793A>G	c.(793-795)Atc>Gtc	p.I265V		NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	265						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)	p.I265V(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TGAAGCCAGATATGTTCTATC	0.453																																						uc002tba.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(793-795)ATC>GTC		cellular repressor of E1A-stimulated genes 2							103.0	99.0	100.0					2																	101967465		2203	4300	6503	SO:0001583	missense	200407					extracellular region	FMN binding	g.chr2:101967465T>C	AB046109	CCDS2052.1	2q12.1	2007-08-01			ENSG00000175874	ENSG00000175874			14272	protein-coding gene	gene with protein product						12408961	Standard	NM_153836		Approved		uc002tba.2	Q8IUH2	OTTHUMG00000130692	ENST00000324768.5:c.793A>G	2.37:g.101967465T>C	ENSP00000315203:p.Ile265Val						p.I265V	NM_153836	NP_722578	Q8IUH2	CREG2_HUMAN			4	839	-			265					Q86X03|Q8N540|Q8N9E3	Missense_Mutation	SNP	ENST00000324768.5	37	c.793A>G	CCDS2052.1	.	.	.	.	.	.	.	.	.	.	T	7.561	0.664798	0.14710	.	.	ENSG00000175874	ENST00000324768	T	0.47528	0.84	5.88	-2.11	0.07187	FMN-binding split barrel-related (1);FMN-binding split barrel (1);	0.259072	0.37530	N	0.002052	T	0.22859	0.0552	N	0.11201	0.11	0.22693	N	0.998843	B	0.06786	0.001	B	0.10450	0.005	T	0.24333	-1.0163	10	0.12103	T	0.63	.	12.7792	0.57466	0.0:0.611:0.0:0.389	.	265	Q8IUH2	CREG2_HUMAN	V	265	ENSP00000315203:I265V	ENSP00000315203:I265V	I	-	1	0	CREG2	101333897	0.001000	0.12720	0.038000	0.18304	0.994000	0.84299	-0.393000	0.07305	-0.309000	0.08779	-0.264000	0.10439	ATC		PASS	0.453	CREG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253188.2	NM_153836		56	169	56	169	---	---	---	---
GPR45	11250	broad.mit.edu	37	2	105859124	105859124	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:105859124T>A	ENST00000258456.1	+	1	925	c.809T>A	c.(808-810)cTg>cAg	p.L270Q		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	270				L -> P (in Ref. 3; AAH67455). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L270Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						ACCACCATCCTGATCCTCTTC	0.622																																						uc002tco.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(808-810)CTG>CAG		G protein-coupled receptor 45							203.0	195.0	198.0					2																	105859124		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105859124T>A	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.809T>A	2.37:g.105859124T>A	ENSP00000258456:p.Leu270Gln						p.L270Q	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	925	+			270	L -> P (in Ref. 3; AAH67455).		Helical; Name=6; (Potential).		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.809T>A	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.715654	0.68844	.	.	ENSG00000135973	ENST00000258456	T	0.42900	0.96	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.65015	0.2651	M	0.85197	2.74	0.53688	D	0.999977	D	0.89917	1.0	D	0.77004	0.989	T	0.68652	-0.5352	10	0.51188	T	0.08	-33.1731	10.1228	0.42632	0.0:0.0814:0.0:0.9186	.	270	Q9Y5Y3	GPR45_HUMAN	Q	270	ENSP00000258456:L270Q	ENSP00000258456:L270Q	L	+	2	0	GPR45	105225556	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.089000	0.57685	1.916000	0.55485	0.379000	0.24179	CTG		PASS	0.622	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		123	262	123	262	---	---	---	---
SULT1C2	6819	broad.mit.edu	37	2	108921915	108921915	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:108921915G>C	ENST00000437390.2	+	7	861	c.684G>C	c.(682-684)aaG>aaC	p.K228N	SULT1C2_ENST00000326853.5_Missense_Mutation_p.K225N|SULT1C2_ENST00000409880.1_Missense_Mutation_p.K177N|SULT1C2_ENST00000251481.6_Missense_Mutation_p.K214N			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	220					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)	p.K225N(1)|p.K214N(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCATGGGAAAGAAGGTGGATG	0.393																																						uc002tdy.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(640-642)AAG>AAC		sulfotransferase family, cytosolic, 1C, member 1							109.0	106.0	107.0					2																	108921915		2203	4300	6503	SO:0001583	missense	6819				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity	g.chr2:108921915G>C	U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.684G>C	2.37:g.108921915G>C	ENSP00000399651:p.Lys228Asn					SULT1C2_uc010ywp.1_Missense_Mutation_p.K129N|SULT1C2_uc002tdx.2_Missense_Mutation_p.K225N|SULT1C2_uc010ywq.1_Missense_Mutation_p.K228N	p.K214N	NM_001056	NP_001047	O00338	ST1C2_HUMAN			7	1095	+			214			PAPS (By similarity).		Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000437390.2	37	c.642G>C		.	.	.	.	.	.	.	.	.	.	G	19.14	3.769972	0.69992	.	.	ENSG00000198203	ENST00000251481;ENST00000326853;ENST00000409880;ENST00000437390	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	4.66	4.66	0.58398	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000002	D	0.89908	0.6851	M	0.91300	3.195	0.58432	D	0.999996	P;P;P;P	0.48089	0.905;0.9;0.689;0.884	P;B;P;P	0.49637	0.617;0.332;0.617;0.482	D	0.92421	0.5945	10	0.72032	D	0.01	.	17.0575	0.86539	0.0:0.0:1.0:0.0	.	228;129;214;225	B4DLP0;B4DPE8;O00338;O00338-2	.;.;ST1C2_HUMAN;.	N	214;225;177;228	ENSP00000251481:K214N;ENSP00000319622:K225N;ENSP00000387054:K177N;ENSP00000399651:K228N	ENSP00000251481:K214N	K	+	3	2	SULT1C2	108288347	0.996000	0.38824	0.961000	0.40146	0.472000	0.32918	3.016000	0.49607	2.564000	0.86499	0.655000	0.94253	AAG		PASS	0.393	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	NM_176825		21	76	21	76	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109397776	109397776	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:109397776C>T	ENST00000283195.6	+	26	8777	c.8651C>T	c.(8650-8652)tCa>tTa	p.S2884L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2884					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S2884L(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GGAACACAGTCAGTCGGAACC	0.358																																						uc002tem.3																		RANBP2/ALK(16)	2	Substitution - Missense(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(8650-8652)TCA>TTA		RAN binding protein 2							86.0	84.0	84.0					2																	109397776		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109397776C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.8651C>T	2.37:g.109397776C>T	ENSP00000283195:p.Ser2884Leu						p.S2884L	NM_006267	NP_006258	P49792	RBP2_HUMAN			26	8777	+			2884					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.8651C>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	7.463	0.645026	0.14451	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.28666	1.6	0.235	0.235	0.15431	.	.	.	.	.	T	0.29256	0.0728	M	0.70595	2.14	0.09310	N	1	B	0.24426	0.103	B	0.15870	0.014	T	0.32107	-0.9919	8	0.72032	D	0.01	-0.399	.	.	.	.	2884	P49792	RBP2_HUMAN	L	1908;2884	ENSP00000283195:S2884L	ENSP00000283195:S2884L	S	+	2	0	RANBP2	108764208	0.005000	0.15991	0.722000	0.30670	0.014000	0.08584	-0.432000	0.06956	0.308000	0.22923	0.313000	0.20887	TCA		PASS	0.358	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		24	80	24	80	---	---	---	---
IL1B	3553	broad.mit.edu	37	2	113588118	113588118	+	Silent	SNP	C	C	T	rs138009692	byFrequency	TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:113588118C>T	ENST00000263341.2	-	7	840	c.630G>A	c.(628-630)aaG>aaA	p.K210K	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	210					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)	p.K210K(1)		breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	GCTTTTCCATCTTCTTCTTTG	0.418																																						uc002tii.1																			1	Substitution - coding silent(1)		lung(1)	lung(3)|breast(1)	4						c.(628-630)AAG>AAA		interleukin 1, beta proprotein	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	C		0,4406		0,0,2203	178.0	173.0	175.0		630	-1.7	1.0	2	dbSNP_134	175	6,8594	4.3+/-15.6	0,6,4294	no	coding-synonymous	IL1B	NM_000576.2		0,6,6497	TT,TC,CC		0.0698,0.0,0.0461		210/270	113588118	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113588118C>T	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.630G>A	2.37:g.113588118C>T						IL1B_uc002tih.1_Silent_p.K179K	p.K210K	NM_000576	NP_000567	P01584	IL1B_HUMAN			7	717	-			210					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Silent	SNP	ENST00000263341.2	37	c.630G>A	CCDS2102.1																																																																																				PASS	0.418	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576		86	177	86	177	---	---	---	---
DBI	1622	broad.mit.edu	37	2	120125782	120125782	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:120125782G>T	ENST00000355857.3	+	2	159	c.28G>T	c.(28-30)Gca>Tca	p.A10S	DBI_ENST00000535617.1_Missense_Mutation_p.A52S|DBI_ENST00000535757.1_Missense_Mutation_p.A27S|DBI_ENST00000311521.4_Missense_Mutation_p.A27S|C2orf76_ENST00000409466.2_5'Flank|C2orf76_ENST00000409877.1_5'Flank|DBI_ENST00000542275.1_Missense_Mutation_p.A71S|DBI_ENST00000409094.1_Missense_Mutation_p.A27S|DBI_ENST00000460901.1_3'UTR|C2orf76_ENST00000334816.7_5'Flank|C2orf76_ENST00000498049.1_5'Flank|C2orf76_ENST00000409523.1_5'Flank|DBI_ENST00000393103.2_Missense_Mutation_p.A11S	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	10	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)	p.A27S(1)		kidney(1)|lung(4)|skin(1)	6						TGAGAAAGCTGCAGAGGAGGT	0.517																																						uc002tlv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(28-30)GCA>TCA		diazepam binding inhibitor isoform 3							119.0	108.0	112.0					2																	120125782		2203	4300	6503	SO:0001583	missense	1622				transport		benzodiazepine receptor binding|fatty-acyl-CoA binding	g.chr2:120125782G>T	L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"""endozepine"""	125950	"""diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"""			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.28G>T	2.37:g.120125782G>T	ENSP00000348116:p.Ala10Ser					C2orf76_uc002tls.2_5'Flank|C2orf76_uc010flf.1_5'Flank|C2orf76_uc010yyg.1_5'Flank|C2orf76_uc002tlt.2_5'Flank|C2orf76_uc002tlu.2_5'Flank|DBI_uc010yyh.1_Missense_Mutation_p.A27S|DBI_uc010yyi.1_Missense_Mutation_p.A27S|DBI_uc010yyj.1_RNA|DBI_uc010yyk.1_Missense_Mutation_p.A52S|DBI_uc010yyl.1_Missense_Mutation_p.A27S|DBI_uc010yym.1_Missense_Mutation_p.A20S|DBI_uc010yyn.1_Missense_Mutation_p.A27S|DBI_uc002tlw.2_Missense_Mutation_p.A27S|DBI_uc010yyo.1_RNA|DBI_uc002tlx.2_Missense_Mutation_p.A11S|DBI_uc010yyp.1_5'Flank	p.A10S	NM_001079862	NP_001073331	P07108	ACBP_HUMAN			2	152	+			10			ACB.		B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Missense_Mutation	SNP	ENST00000355857.3	37	c.28G>T	CCDS42740.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424400	0.83667	.	.	ENSG00000155368	ENST00000355857;ENST00000535617;ENST00000535757;ENST00000409094;ENST00000311521;ENST00000542275;ENST00000393103	T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97	4.6	4.6	0.57074	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4);	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.996;0.988	D;D;D;D;P	0.87578	0.998;0.998;0.996;0.941;0.901	T	0.63703	-0.6577	10	0.72032	D	0.01	-26.2336	15.3057	0.73990	0.0:0.0:1.0:0.0	.	20;52;11;27;10	B8ZWD1;B8ZWD7;P07108-3;B8ZWD2;P07108	.;.;.;.;ACBP_HUMAN	S	10;52;27;27;27;71;11	ENSP00000348116:A10S;ENSP00000442917:A52S;ENSP00000439012:A27S;ENSP00000386486:A27S;ENSP00000311117:A27S;ENSP00000440698:A71S;ENSP00000376815:A11S	ENSP00000311117:A27S	A	+	1	0	DBI	119842252	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	8.388000	0.90170	2.547000	0.85894	0.655000	0.94253	GCA		PASS	0.517	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330590.1	NM_020548		56	152	56	152	---	---	---	---
TFCP2L1	29842	broad.mit.edu	37	2	121981961	121981961	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:121981961C>G	ENST00000263707.5	-	15	1493	c.1396G>C	c.(1396-1398)Gag>Cag	p.E466Q		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	466					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E466Q(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TCATTGCTCTCAGCTGCAAGA	0.517																																						uc002tmx.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1396-1398)GAG>CAG		LBP-9							91.0	76.0	81.0					2																	121981961		2203	4300	6503	SO:0001583	missense	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:121981961C>G	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.1396G>C	2.37:g.121981961C>G	ENSP00000263707:p.Glu466Gln					TFCP2L1_uc010flr.2_Missense_Mutation_p.E401Q|TFCP2L1_uc010flq.2_RNA	p.E466Q	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN			15	1489	-	Renal(3;0.01)		466					Q4ZG43	Missense_Mutation	SNP	ENST00000263707.5	37	c.1396G>C	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535491	0.45176	.	.	ENSG00000115112	ENST00000263707;ENST00000537910	T	0.20738	2.05	5.12	4.24	0.50183	.	0.359565	0.30911	N	0.008630	T	0.20700	0.0498	L	0.45581	1.43	0.58432	D	0.999998	B	0.17852	0.024	B	0.19148	0.024	T	0.02661	-1.1127	10	0.34782	T	0.22	.	14.0933	0.65004	0.0:0.9267:0.0:0.0733	.	466	Q9NZI6	TF2L1_HUMAN	Q	466;19	ENSP00000263707:E466Q	ENSP00000263707:E466Q	E	-	1	0	TFCP2L1	121698431	1.000000	0.71417	0.824000	0.32777	0.880000	0.50808	6.189000	0.72051	1.279000	0.44446	0.557000	0.71058	GAG		PASS	0.517	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		4	34	4	34	---	---	---	---
AMER3	205147	broad.mit.edu	37	2	131520801	131520801	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:131520801G>T	ENST00000423981.1	+	2	1266	c.1156G>T	c.(1156-1158)Ggc>Tgc	p.G386C	AMER3_ENST00000321420.4_Missense_Mutation_p.G386C	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	386					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.G386C(1)									AAGTGACGAGGGCTACTATGA	0.627																																						uc002trw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1156-1158)GGC>TGC		hypothetical protein LOC205147							78.0	61.0	67.0					2																	131520801		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131520801G>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1156G>T	2.37:g.131520801G>T	ENSP00000392700:p.Gly386Cys					FAM123C_uc010fmv.2_Missense_Mutation_p.G386C|FAM123C_uc010fms.1_Missense_Mutation_p.G386C|FAM123C_uc010fmt.1_Missense_Mutation_p.G386C|FAM123C_uc010fmu.1_Missense_Mutation_p.G386C	p.G386C	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1346	+	Colorectal(110;0.1)		386					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1156G>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020882	0.54576	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.63096	-0.02;-0.02	5.4	3.6	0.41247	.	0.000000	0.64402	D	0.000003	T	0.76744	0.4030	M	0.77103	2.36	0.43688	D	0.996131	D	0.89917	1.0	D	0.91635	0.999	T	0.77542	-0.2549	10	0.87932	D	0	.	9.9982	0.41913	0.1658:0.0:0.8342:0.0	.	386	Q8N944	F123C_HUMAN	C	386	ENSP00000314914:G386C;ENSP00000392700:G386C	ENSP00000314914:G386C	G	+	1	0	FAM123C	131237271	1.000000	0.71417	0.895000	0.35142	0.501000	0.33797	8.796000	0.91877	0.774000	0.33427	0.561000	0.74099	GGC		PASS	0.627	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		21	81	21	81	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	132021592	132021592	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:132021592C>G	ENST00000356920.5	+	15	2658	c.2564C>G	c.(2563-2565)tCt>tGt	p.S855C	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	855	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S855C(1)									GTGATGGACTCTGGTGACGGG	0.612																																						uc002tsn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2563-2565)TCT>TGT		protein expressed in prostate, ovary, testis,							78.0	79.0	79.0					2																	132021592		2195	4272	6467	SO:0001583	missense	445582						ATP binding	g.chr2:132021592C>G	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2564C>G	2.37:g.132021592C>G	ENSP00000439189:p.Ser855Cys					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.S455C|POTEE_uc002tsl.2_Missense_Mutation_p.S437C|POTEE_uc010fmy.1_Missense_Mutation_p.S319C	p.S855C	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			15	2616	+			855			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.2564C>G	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	14.67	2.605908	0.46527	.	.	ENSG00000188219	ENST00000356920	T	0.09445	2.98	.	.	.	.	.	.	.	.	T	0.15176	0.0366	M	0.62016	1.91	0.80722	D	1	D	0.53619	0.961	P	0.49502	0.613	T	0.04017	-1.0984	8	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	855	Q6S8J3	POTEE_HUMAN	C	855	ENSP00000439189:S855C	ENSP00000439189:S855C	S	+	2	0	AC131180.1	131738062	1.000000	0.71417	0.191000	0.23289	0.194000	0.23727	3.606000	0.54095	0.119000	0.18210	0.121000	0.15741	TCT		PASS	0.612	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		6	206	6	206	---	---	---	---
R3HDM1	23518	broad.mit.edu	37	2	136393534	136393534	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:136393534G>C	ENST00000264160.4	+	10	1143	c.773G>C	c.(772-774)aGa>aCa	p.R258T	R3HDM1_ENST00000329971.3_Missense_Mutation_p.R214T|R3HDM1_ENST00000410054.1_Missense_Mutation_p.R202T|R3HDM1_ENST00000409606.1_Missense_Mutation_p.R258T|R3HDM1_ENST00000409478.1_Missense_Mutation_p.R214T	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	258	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.						poly(A) RNA binding (GO:0044822)	p.R258T(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ATCCTCAAGAGAGATAACTCT	0.318																																						uc002tuo.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(772-774)AGA>ACA		R3H domain containing 1							96.0	108.0	104.0					2																	136393534		2203	4299	6502	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136393534G>C	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.773G>C	2.37:g.136393534G>C	ENSP00000264160:p.Arg258Thr					R3HDM1_uc010fni.2_Missense_Mutation_p.R256T|R3HDM1_uc002tup.2_Missense_Mutation_p.R202T|R3HDM1_uc010zbh.1_Missense_Mutation_p.R90T	p.R258T	NM_015361	NP_056176	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	10	1143	+			258					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.773G>C	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.356007|4.356007	0.82243|0.82243	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000456040|ENST00000422577;ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	.|D;D;D;D;D	.|0.96200	.|-3.94;-3.94;-3.94;-3.94;-3.94	5.61|5.61	4.73|4.73	0.59995|0.59995	.|SUZ domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97539|0.97539	0.9194|0.9194	M|M	0.80746|0.80746	2.51|2.51	0.40473|0.40473	D|D	0.98036|0.98036	.|P;D;D;D	.|0.89917	.|0.928;1.0;0.997;0.997	.|P;D;D;D	.|0.91635	.|0.647;0.999;0.994;0.994	D|D	0.98616|0.98616	1.0665|1.0665	5|10	.|0.87932	.|D	.|0	-12.9493|-12.9493	14.6966|14.6966	0.69126|0.69126	0.0699:0.0:0.9301:0.0|0.0699:0.0:0.9301:0.0	.|.	.|214;258;202;258	.|G5E9G8;E9PBB4;E9PG42;Q15032	.|.;.;.;R3HD1_HUMAN	Q|T	241|214;214;258;214;202;258	.|ENSP00000386457:R214T;ENSP00000264160:R258T;ENSP00000331396:R214T;ENSP00000386877:R202T;ENSP00000387010:R258T	.|ENSP00000264160:R258T	E|R	+|+	1|2	0|0	R3HDM1|R3HDM1	136110004|136110004	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.869000|9.869000	0.99810|0.99810	1.361000|1.361000	0.45981|0.45981	0.655000|0.655000	0.94253|0.94253	GAG|AGA		PASS	0.318	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		9	260	9	260	---	---	---	---
UBXN4	23190	broad.mit.edu	37	2	136528164	136528164	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:136528164G>C	ENST00000272638.9	+	8	992	c.681G>C	c.(679-681)gaG>gaC	p.E227D	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	227					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E227D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AGGAAATTGAGAGGAGAAAAA	0.303																																						uc002tur.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(679-681)GAG>GAC		UBX domain containing 2							49.0	45.0	46.0					2																	136528164		1787	4064	5851	SO:0001583	missense	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136528164G>C	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.681G>C	2.37:g.136528164G>C	ENSP00000272638:p.Glu227Asp					UBXN4_uc002tus.2_5'UTR	p.E227D	NM_014607	NP_055422	Q92575	UBXN4_HUMAN			8	992	+			227			Cytoplasmic (Potential).		A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	ENST00000272638.9	37	c.681G>C	CCDS42761.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.889061	0.33348	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.26223	1.75	5.54	-0.0781	0.13716	.	0.220711	0.45867	D	0.000338	T	0.15305	0.0369	L	0.39633	1.23	0.37402	D	0.91288	B	0.13145	0.007	B	0.12156	0.007	T	0.13899	-1.0492	10	0.19147	T	0.46	.	5.4748	0.16690	0.4763:0.0:0.364:0.1598	.	227	Q92575	UBXN4_HUMAN	D	227;209	ENSP00000272638:E227D	ENSP00000272638:E227D	E	+	3	2	UBXN4	136244634	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	0.720000	0.25896	0.036000	0.15547	0.585000	0.79938	GAG		PASS	0.303	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		4	21	4	21	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	137748464	137748464	+	Start_Codon_SNP	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:137748464G>T	ENST00000413152.2	+	1	3	c.3G>T	c.(1-3)atG>atT	p.M1I	THSD7B_ENST00000272643.3_Intron|THSD7B_ENST00000409968.1_Intron	NM_001080427.1	NP_001073896.1	Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	0						integral component of membrane (GO:0016021)		p.M1I(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCGAAACGATGCATAACACAG	0.403																																						uc002tva.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1-3)ATG>ATT		thrombospondin, type I, domain containing 7B							103.0	96.0	98.0					2																	137748464		1876	4120	5996	SO:0001582	initiator_codon_variant	80731							g.chr2:137748464G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000413152.2:c.3G>T	2.37:g.137748464G>T	ENSP00000413841:p.Met1Ile					THSD7B_uc010zbj.1_Intron	p.M1I	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	1	3	+									Missense_Mutation	SNP	ENST00000413152.2	37	c.3G>T		.	.	.	.	.	.	.	.	.	.	G	5.510	0.279101	0.10458	.	.	ENSG00000144229	ENST00000413152	T	0.20598	2.06	4.7	2.91	0.33838	.	.	.	.	.	T	0.14830	0.0358	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21143	-1.0254	8	0.49607	T	0.09	.	6.9286	0.24429	0.2054:0.0:0.7946:0.0	.	1	C9JKN6	.	I	1	ENSP00000413841:M1I	ENSP00000413841:M1I	M	+	3	0	THSD7B	137464934	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	0.657000	0.24963	0.601000	0.29879	-0.140000	0.14226	ATG		PASS	0.403	THSD7B-202	KNOWN	basic	protein_coding	protein_coding		XM_046570.9	Missense_Mutation	4	10	4	10	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141232707	141232707	+	Splice_Site	SNP	C	C	A	rs77794732		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:141232707C>A	ENST00000389484.3	-	60	10596	c.9625G>T	c.(9625-9627)Gtc>Ttc	p.V3209F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3209					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.V3209F(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)		CTGGACCAACCTTTGTGTCTA	0.289										TSP Lung(27;0.18)			C|||	1	0.000199681	0.0	0.0	5008	,	,		12997	0.0		0.001	False		,,,				2504	0.0				Colon(99;50 2074 2507 20106)	uc002tvj.1																			2	Substitution - Missense(2)		lung(2)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(9625-9627)GTC>TTC		low density lipoprotein-related protein 1B							77.0	73.0	74.0					2																	141232707		2203	4299	6502	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141232707C>A	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.9625+1G>T	2.37:g.141232707C>A		TSP Lung(27;0.18)					p.V3209F	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)	60	10597	-		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)	3209			Extracellular (Potential).|LDL-receptor class B 31.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9625G>T	CCDS2182.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	27.1	4.796976	0.90453	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91631	-2.88	5.72	5.72	0.89469	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000003	D	0.96284	0.8788	M	0.80847	2.515	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.95635	0.8693	9	.	.	.	.	19.8807	0.96899	0.0:1.0:0.0:0.0	.	3209	Q9NZR2	LRP1B_HUMAN	F	3209;3147	ENSP00000374135:V3209F	.	V	-	1	0	LRP1B	140949177	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.771000	0.85420	2.704000	0.92352	0.650000	0.86243	GTC		PASS	0.289	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Missense_Mutation	24	176	24	176	---	---	---	---
ARHGAP15	55843	broad.mit.edu	37	2	144381815	144381815	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:144381815G>C	ENST00000295095.6	+	12	1284	c.1117G>C	c.(1117-1119)Gag>Cag	p.E373Q		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	373	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)	p.E373Q(1)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CAGTTTCTTTGAGCAGTTTGT	0.458																																						uc002tvm.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1117-1119)GAG>CAG		ARHGAP15							80.0	75.0	76.0					2																	144381815		2203	4300	6503	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144381815G>C	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.1117G>C	2.37:g.144381815G>C	ENSP00000295095:p.Glu373Gln					ARHGAP15_uc002tvn.2_Missense_Mutation_p.E139Q	p.E373Q	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	12	1268	+			373			Rho-GAP.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.1117G>C	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704202	0.48412	.	.	ENSG00000075884	ENST00000295095	T	0.12465	2.68	6.16	6.16	0.99307	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.329234	0.32548	N	0.005959	T	0.14399	0.0348	L	0.32530	0.975	0.45621	D	0.998552	B	0.28128	0.201	B	0.27887	0.084	T	0.08597	-1.0714	10	0.25751	T	0.34	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	373	Q53QZ3	RHG15_HUMAN	Q	373	ENSP00000295095:E373Q	ENSP00000295095:E373Q	E	+	1	0	ARHGAP15	144098285	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.130000	0.50508	2.937000	0.99478	0.650000	0.86243	GAG		PASS	0.458	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		4	88	4	88	---	---	---	---
KIF5C	3800	broad.mit.edu	37	2	149799217	149799217	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:149799217G>A	ENST00000435030.1	+	7	900	c.532G>A	c.(532-534)Gag>Aag	p.E178K	KIF5C_ENST00000414838.2_Missense_Mutation_p.E83K			O60282	KIF5C_HUMAN	kinesin family member 5C	178	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.E178K(1)|p.E81K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GTCGAGCCCTGAGGAAGTCAT	0.493																																						uc010zbu.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(532-534)GAG>AAG		kinesin family member 5C							74.0	73.0	73.0					2																	149799217		1971	4151	6122	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149799217G>A	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.532G>A	2.37:g.149799217G>A	ENSP00000393379:p.Glu178Lys						p.E178K	NM_004522	NP_004513	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	7	900	+			178			Kinesin-motor.|Microtubule-binding.		O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.532G>A		.	.	.	.	.	.	.	.	.	.	G	18.21	3.573628	0.65765	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436	T;T	0.77489	-1.1;-1.1	5.48	5.48	0.80851	Kinesin, motor domain (4);	0.048656	0.85682	D	0.000000	D	0.86744	0.6006	.	.	.	0.80722	D	1	P	0.52170	0.951	P	0.58520	0.84	D	0.87043	0.2142	9	0.62326	D	0.03	.	19.5489	0.95310	0.0:0.0:1.0:0.0	.	178	O60282	KIF5C_HUMAN	K	178;83;81	ENSP00000393379:E178K;ENSP00000410115:E83K	ENSP00000334176:E81K	E	+	1	0	KIF5C	149507463	1.000000	0.71417	0.967000	0.41034	0.161000	0.22273	9.564000	0.98151	2.850000	0.98022	0.655000	0.94253	GAG		PASS	0.493	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		6	16	6	16	---	---	---	---
KIF5C	3800	broad.mit.edu	37	2	149806962	149806962	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:149806962G>C	ENST00000435030.1	+	10	1322	c.954G>C	c.(952-954)ctG>ctC	p.L318L	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Silent_p.L86L|KIF5C_ENST00000414838.2_Silent_p.L223L			O60282	KIF5C_HUMAN	kinesin family member 5C	318	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.L318L(1)|p.L221L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGTCCACACTGATGTTCGGAC	0.522																																						uc010zbu.1																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(952-954)CTG>CTC		kinesin family member 5C							95.0	90.0	92.0					2																	149806962		1996	4179	6175	SO:0001819	synonymous_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149806962G>C	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.954G>C	2.37:g.149806962G>C						KIF5C_uc002tws.1_RNA	p.L318L	NM_004522	NP_004513	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	10	1322	+			318			Kinesin-motor.		O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37	c.954G>C																																																																																					PASS	0.522	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		15	35	15	35	---	---	---	---
NMI	9111	broad.mit.edu	37	2	152132274	152132274	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:152132274G>A	ENST00000243346.5	-	5	915	c.445C>T	c.(445-447)Cag>Tag	p.Q149*		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	149					inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)	p.Q149*(1)		endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CCTGTTACCTGGAATCTGACT	0.353																																						uc002txi.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(445-447)CAG>TAG		N-myc and STAT interactor							73.0	75.0	74.0					2																	152132274		2203	4300	6503	SO:0001587	stop_gained	9111				inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity	g.chr2:152132274G>A	U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.445C>T	2.37:g.152132274G>A	ENSP00000243346:p.Gln149*					NMI_uc010zbx.1_Nonsense_Mutation_p.Q149*	p.Q149*	NM_004688	NP_004679	Q13287	NMI_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0571)	5	775	-			149					B5BU69|Q53TI8|Q9BVE5	Nonsense_Mutation	SNP	ENST00000243346.5	37	c.445C>T	CCDS2192.1	.	.	.	.	.	.	.	.	.	.	G	39	7.604145	0.98384	.	.	ENSG00000123609	ENST00000243346	.	.	.	5.42	5.42	0.78866	.	0.093245	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-16.0956	15.0697	0.72026	0.0:0.0:1.0:0.0	.	.	.	.	X	149	.	ENSP00000243346:Q149X	Q	-	1	0	NMI	151840520	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	2.295000	0.43576	2.709000	0.92574	0.591000	0.81541	CAG		PASS	0.353	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254817.2	NM_004688		10	121	10	121	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152427061	152427061	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:152427061C>T	ENST00000172853.10	-	80	12112	c.11965G>A	c.(11965-11967)Gat>Aat	p.D3989N	NEB_ENST00000604864.1_Missense_Mutation_p.D5690N|NEB_ENST00000603639.1_Missense_Mutation_p.D5690N|NEB_ENST00000409198.1_Missense_Mutation_p.D3989N|NEB_ENST00000427231.2_Missense_Mutation_p.D5690N|NEB_ENST00000397345.3_Missense_Mutation_p.D5690N			P20929	NEBU_HUMAN	nebulin	3989					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.D5690N(1)|p.D3989N(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGATGGCATCCAGCCGGACA	0.483																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(11965-11967)GAT>AAT		nebulin isoform 3							26.0	28.0	27.0					2																	152427061		1937	4172	6109	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152427061C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11965G>A	2.37:g.152427061C>T	ENSP00000172853:p.Asp3989Asn					NEB_uc002txr.2_Missense_Mutation_p.D412N	p.D3989N	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	80	12156	-			3989			Nebulin 109.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.11965G>A		.	.	.	.	.	.	.	.	.	.	C	29.2	4.983930	0.93044	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.99	5.99	0.97316	.	0.043704	0.85682	D	0.000000	D	0.84215	0.5423	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.997	D	0.85130	0.0974	10	0.72032	D	0.01	.	19.4659	0.94939	0.0:1.0:0.0:0.0	.	3989;420	P20929;Q14215	NEBU_HUMAN;.	N	3989;5690;5690;38;420;3989	ENSP00000386259:D3989N;ENSP00000380505:D5690N;ENSP00000416578:D5690N;ENSP00000410961:D420N;ENSP00000172853:D3989N	ENSP00000172853:D3989N	D	-	1	0	NEB	152135307	1.000000	0.71417	0.998000	0.56505	0.570000	0.35934	7.629000	0.83207	2.840000	0.97914	0.655000	0.94253	GAT		PASS	0.483	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		4	16	4	16	---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159536982	159536982	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:159536982G>A	ENST00000389759.3	+	22	3484	c.3372G>A	c.(3370-3372)aaG>aaA	p.K1124K	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Silent_p.K1081K|AC005042.4_ENST00000442666.1_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1124					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.K1124K(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCAACAGAAAGAACTTTGATG	0.328										HNSCC(62;0.18)																												uc002tzv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)	7						c.(3370-3372)AAG>AAA		plakophilin 4 isoform a							92.0	86.0	88.0					2																	159536982		2203	4300	6503	SO:0001819	synonymous_variant	8502				cell adhesion	desmosome	protein binding	g.chr2:159536982G>A	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3372G>A	2.37:g.159536982G>A		HNSCC(62;0.18)				PKP4_uc002tzw.2_Silent_p.K1081K|PKP4_uc002tzx.2_Silent_p.K781K|PKP4_uc002uaa.2_Silent_p.K933K|uc002uab.1_Intron|PKP4_uc002uac.2_Silent_p.K305K|PKP4_uc002uad.2_RNA	p.K1124K	NM_003628	NP_003619	Q99569	PKP4_HUMAN			22	3632	+			1124					Q86W91	Silent	SNP	ENST00000389759.3	37	c.3372G>A	CCDS33305.1																																																																																				PASS	0.328	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			26	214	26	214	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166848121	166848121	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:166848121C>G	ENST00000303395.4	-	26	5663	c.5664G>C	c.(5662-5664)caG>caC	p.Q1888H	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.Q1860H|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.Q1888H|SCN1A_ENST00000375405.3_Missense_Mutation_p.Q1877H			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1888					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.Q1888H(1)|p.Q1877H(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTCTTCCATCTGTATTCGTA	0.438																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(5629-5631)CAG>CAC		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						96.0	89.0	92.0					2																	166848121		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848121C>G	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5664G>C	2.37:g.166848121C>G	ENSP00000303540:p.Gln1888His						p.Q1877H	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	5649	-			1888					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5631G>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595405	0.46318	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96554	-4.05;-4.05;-4.0;-3.98	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000013	D	0.98058	0.9360	M	0.87758	2.905	0.53005	D	0.999964	D	0.64830	0.994	D	0.71870	0.975	D	0.98325	1.0530	10	0.87932	D	0	.	13.2207	0.59885	0.0:0.9274:0.0:0.0726	.	1877	P35498-2	.	H	1888;1888;1877;1860	ENSP00000407030:Q1888H;ENSP00000303540:Q1888H;ENSP00000364554:Q1877H;ENSP00000386312:Q1860H	ENSP00000303540:Q1888H	Q	-	3	2	SCN1A	166556367	0.996000	0.38824	1.000000	0.80357	0.975000	0.68041	0.492000	0.22435	2.788000	0.95919	0.650000	0.86243	CAG		PASS	0.438	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		17	162	17	162	---	---	---	---
B3GALT1	8708	broad.mit.edu	37	2	168726011	168726011	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:168726011C>G	ENST00000392690.3	+	1	554	c.462C>G	c.(460-462)ctC>ctG	p.L154L	AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000305861.1_Silent_p.L154L|AC016723.4_ENST00000430546.1_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	154					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.L154L(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						ACCTTACCCTCAAAACATTAA	0.408																																						uc002udz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(460-462)CTC>CTG		UDP-Gal:betaGlcNAc beta							84.0	80.0	82.0					2																	168726011		2203	4300	6503	SO:0001819	synonymous_variant	8708				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:168726011C>G	E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"""Beta 3-glycosyltransferases"""	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.462C>G	2.37:g.168726011C>G							p.L154L	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN			2	813	+			154			Lumenal (Potential).		D3DPB8|Q53SS2	Silent	SNP	ENST00000392690.3	37	c.462C>G	CCDS2227.1																																																																																				PASS	0.408	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255211.2	NM_020981		33	91	33	91	---	---	---	---
RAPGEF4	11069	broad.mit.edu	37	2	173659797	173659797	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:173659797G>T	ENST00000397081.3	+	2	253	c.110G>T	c.(109-111)cGa>cTa	p.R37L	RAPGEF4_ENST00000409036.1_Missense_Mutation_p.R37L|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.R37L	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	37					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R37L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ATCTTCACTCGACTGAAAGAA	0.378																																						uc002uhv.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(109-111)CGA>CTA		Rap guanine nucleotide exchange factor (GEF) 4							156.0	151.0	153.0					2																	173659797		1824	4078	5902	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173659797G>T	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.110G>T	2.37:g.173659797G>T	ENSP00000380271:p.Arg37Leu					RAPGEF4_uc002uhu.2_Missense_Mutation_p.R37L|RAPGEF4_uc010fqn.2_Missense_Mutation_p.R20L	p.R37L	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		2	297	+			37					B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.110G>T	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693724	0.88735	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036	T;T;T	0.37584	1.19;1.19;1.19	5.46	4.57	0.56435	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.061590	0.64402	D	0.000003	T	0.55162	0.1903	L	0.52573	1.65	0.80722	D	1	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.85130	0.914;0.923;0.997	T	0.58668	-0.7596	10	0.66056	D	0.02	.	16.1914	0.81992	0.0:0.1335:0.8665:0.0	.	37;37;37	E7EVE5;Q8WZA2;E9PB94	.;RPGF4_HUMAN;.	L	37	ENSP00000264111:R37L;ENSP00000380271:R37L;ENSP00000387104:R37L	ENSP00000264111:R37L	R	+	2	0	RAPGEF4	173368043	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.357000	0.97099	1.275000	0.44379	0.650000	0.86243	CGA		PASS	0.378	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		71	333	71	333	---	---	---	---
RAPGEF4	11069	broad.mit.edu	37	2	173891404	173891404	+	Silent	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:173891404A>G	ENST00000397081.3	+	24	2501	c.2358A>G	c.(2356-2358)gaA>gaG	p.E786E	RAPGEF4_ENST00000409036.1_Silent_p.E786E|RAPGEF4_ENST00000535187.1_Silent_p.E566E|RAPGEF4_ENST00000397087.3_Silent_p.E642E|RAPGEF4_ENST00000540783.1_Silent_p.E633E|RAPGEF4_ENST00000538974.1_Silent_p.E615E|RAPGEF4_ENST00000264111.6_Silent_p.E785E|RAPGEF4_ENST00000539331.1_Silent_p.E633E	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	786	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.E786E(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ATGATTGGGAACTCTTCAACT	0.438																																						uc002uhv.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(2356-2358)GAA>GAG		Rap guanine nucleotide exchange factor (GEF) 4							122.0	109.0	113.0					2																	173891404		1941	4164	6105	SO:0001819	synonymous_variant	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173891404A>G	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2358A>G	2.37:g.173891404A>G						RAPGEF4_uc002uhw.3_Silent_p.E642E	p.E786E	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		24	2545	+			786			Ras-GEF.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Silent	SNP	ENST00000397081.3	37	c.2358A>G	CCDS42775.1																																																																																				PASS	0.438	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		41	131	41	131	---	---	---	---
EVX2	344191	broad.mit.edu	37	2	176948324	176948324	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:176948324C>T	ENST00000308618.4	-	1	317	c.181G>A	c.(181-183)Gct>Act	p.A61T		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	61					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A61T(1)		kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TCTCCCAGAGCGCTGTGCAGG	0.607																																						uc010zeu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(181-183)GCT>ACT		even-skipped homeobox 2							38.0	45.0	43.0					2																	176948324		2203	4300	6503	SO:0001583	missense	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176948324C>T		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.181G>A	2.37:g.176948324C>T	ENSP00000312385:p.Ala61Thr						p.A61T	NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	1	367	-			61						Missense_Mutation	SNP	ENST00000308618.4	37	c.181G>A	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	C	6.380	0.438270	0.12104	.	.	ENSG00000174279	ENST00000308618	D	0.91237	-2.81	5.44	1.68	0.24146	.	0.187477	0.46758	D	0.000261	T	0.77130	0.4085	N	0.20685	0.6	0.33699	D	0.614358	B	0.18166	0.026	B	0.04013	0.001	T	0.64063	-0.6495	10	0.13470	T	0.59	-0.617	3.3706	0.07219	0.1209:0.5643:0.117:0.1978	.	61	Q03828	EVX2_HUMAN	T	61	ENSP00000312385:A61T	ENSP00000312385:A61T	A	-	1	0	EVX2	176656570	0.951000	0.32395	0.994000	0.49952	0.985000	0.73830	0.952000	0.29149	0.128000	0.18479	-0.137000	0.14449	GCT		PASS	0.607	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			11	92	11	92	---	---	---	---
DFNB59	494513	broad.mit.edu	37	2	179319253	179319253	+	Splice_Site	SNP	C	C	T	rs367688416		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:179319253C>T	ENST00000409117.3	+	3	762	c.406C>T	c.(406-408)Cga>Tga	p.R136*	DFNB59_ENST00000375129.4_Splice_Site_p.R136*	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	136					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)		p.R136*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AATTACTACACGGTCAGTATA	0.299																																						uc002umi.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(406-408)CGA>TGA		deafness, autosomal recessive 59		C	stop/ARG	1,3691		0,1,1845	45.0	42.0	43.0		406	5.0	1.0	2		43	0,8186		0,0,4093	no	stop-gained-near-splice	DFNB59	NM_001042702.3		0,1,5938	TT,TC,CC		0.0,0.0271,0.0084		136/353	179319253	1,11877	1846	4093	5939	SO:0001630	splice_region_variant	494513				sensory perception of sound			g.chr2:179319253C>T	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.407+1C>T	2.37:g.179319253C>T						DFNB59_uc002umj.3_Nonsense_Mutation_p.R136*	p.R136*	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		3	762	+			136					A0PK14|B9EJE2	Nonsense_Mutation	SNP	ENST00000409117.3	37	c.406C>T	CCDS42787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.176158|4.176158	0.78564|0.78564	2.71E-4|2.71E-4	0.0|0.0	ENSG00000204311|ENSG00000204311	ENST00000409117;ENST00000375129|ENST00000442710	.|T	.|0.22539	.|1.95	5.97|5.97	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.30401|.	U|.	0.009710|.	.|T	.|0.37293	.|0.0998	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.42292	.|-0.9460	.|5	0.02654|0.62326	T|D	1|0.03	-19.9721|-19.9721	13.8892|13.8892	0.63729|0.63729	0.2559:0.7441:0.0:0.0|0.2559:0.7441:0.0:0.0	.|.	.|.	.|.	.|.	X|M	136|83	.|ENSP00000410776:T83M	ENSP00000364271:R136X|ENSP00000410776:T83M	R|T	+|+	1|2	2|0	DFNB59|DFNB59	179027499|179027499	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.871000|0.871000	0.50021|0.50021	1.792000|1.792000	0.38754|0.38754	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	CGA|ACG		PASS	0.299	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1		Nonsense_Mutation	25	64	25	64	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179424611	179424611	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:179424611C>T	ENST00000591111.1	-	276	81549	c.81325G>A	c.(81325-81327)Gaa>Aaa	p.E27109K	TTN_ENST00000342992.6_Missense_Mutation_p.E26182K|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E19685K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E28750K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E19877K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19810K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27109	Ig-like 129.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E19877K(1)|p.E26180K(1)|p.E26182K(1)|p.E19810K(1)|p.E19685K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGGTTCTTCTTCTCTTTCC	0.428																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(78544-78546)GAA>AAA		titin isoform N2-A							116.0	112.0	113.0					2																	179424611		1924	4124	6048	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179424611C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81325G>A	2.37:g.179424611C>T	ENSP00000465570:p.Glu27109Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E19877K|TTN_uc010zfi.1_Missense_Mutation_p.E19810K|TTN_uc010zfj.1_Missense_Mutation_p.E19685K	p.E26182K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	78768	-			27109					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.78544G>A		.	.	.	.	.	.	.	.	.	.	C	17.70	3.453341	0.63290	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63744	-0.06;0.16;0.15;0.13	5.87	5.87	0.94306	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66509	0.2796	M	0.72894	2.215	0.58432	D	0.999999	P;P;P;P	0.46395	0.877;0.877;0.877;0.792	B;B;B;B	0.40741	0.339;0.339;0.339;0.257	T	0.71941	-0.4440	9	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	19685;19810;19877;27109	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	26182;19685;19877;19810;19682	ENSP00000343764:E26182K;ENSP00000434586:E19685K;ENSP00000340554:E19877K;ENSP00000352154:E19810K	ENSP00000340554:E19877K	E	-	1	0	TTN	179132857	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.729000	0.84864	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	215	7	215	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179431097	179431097	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:179431097C>G	ENST00000591111.1	-	276	75063	c.74839G>C	c.(74839-74841)Gaa>Caa	p.E24947Q	TTN_ENST00000342992.6_Missense_Mutation_p.E24020Q|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17523Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E26588Q|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17715Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17648Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24947					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E24018Q(1)|p.E17648Q(1)|p.E17523Q(1)|p.E17715Q(1)|p.E24020Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGGTGCTTCAAGTTTATCT	0.423																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(72058-72060)GAA>CAA		titin isoform N2-A							143.0	145.0	145.0					2																	179431097		2021	4182	6203	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431097C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74839G>C	2.37:g.179431097C>G	ENSP00000465570:p.Glu24947Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E17715Q|TTN_uc010zfi.1_Missense_Mutation_p.E17648Q|TTN_uc010zfj.1_Missense_Mutation_p.E17523Q	p.E24020Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	72282	-			24947					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.72058G>C		.	.	.	.	.	.	.	.	.	.	C	12.91	2.079442	0.36662	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64618	-0.11;0.16;0.14;0.13	5.91	5.03	0.67393	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.60766	0.2294	M	0.72624	2.21	0.58432	D	0.999997	P;P;P;P	0.43094	0.799;0.799;0.799;0.682	B;B;B;B	0.35859	0.212;0.212;0.212;0.186	T	0.68138	-0.5488	9	0.87932	D	0	.	15.4647	0.75390	0.0:0.9329:0.0:0.0671	.	17523;17648;17715;24947	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	24020;17523;17715;17648;17521	ENSP00000343764:E24020Q;ENSP00000434586:E17523Q;ENSP00000340554:E17715Q;ENSP00000352154:E17648Q	ENSP00000340554:E17715Q	E	-	1	0	TTN	179139343	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.025000	0.70864	1.485000	0.48380	0.555000	0.69702	GAA		PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	424	22	424	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179546413	179546413	+	Silent	SNP	T	T	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:179546413T>G	ENST00000591111.1	-	134	32420	c.32196A>C	c.(32194-32196)acA>acC	p.T10732T	TTN_ENST00000342992.6_Silent_p.T9805T|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.T11049T|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11693	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T9805T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTGGTTTTGTGGGAACTG	0.378																																						uc010zfg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(29413-29415)ACA>ACC		titin isoform N2-A							141.0	135.0	137.0					2																	179546413		1813	4081	5894	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179546413T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32196A>C	2.37:g.179546413T>G						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T6466T|TTN_uc010fre.1_Silent_p.T652T|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	p.T9805T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		133	29639	-			10732					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.29415A>C																																																																																					PASS	0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		63	119	63	119	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179613783	179613783	+	Intron	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:179613783C>G	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E4448D			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E4448E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTAGTGTATCTCTTCACCAA	0.338																																						uc002unb.2																			1	Substitution - coding silent(1)		skin(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13342-13344)GAG>GAC		titin isoform novex-3							61.0	63.0	63.0					2																	179613783		2202	4294	6496	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613783C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4067G>C	2.37:g.179613783C>G						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.E4448D	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13568	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13344G>C		.	.	.	.	.	.	.	.	.	.	C	11.89	1.774256	0.31411	.	.	ENSG00000155657	ENST00000360870	T	0.60424	0.19	5.95	1.11	0.20524	.	.	.	.	.	T	0.35189	0.0923	L	0.27053	0.805	0.53688	D	0.999972	P	0.42692	0.787	B	0.39379	0.298	T	0.37979	-0.9682	9	0.02654	T	1	.	9.2752	0.37694	0.0:0.5728:0.0:0.4272	.	4448	Q8WZ42-6	.	D	4448	ENSP00000354117:E4448D	ENSP00000354117:E4448D	E	-	3	2	TTN	179322028	0.926000	0.31397	0.977000	0.42913	0.088000	0.18126	0.264000	0.18497	0.423000	0.26033	0.563000	0.77884	GAG		PASS	0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	135	22	135	---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189964841	189964841	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:189964841C>G	ENST00000374866.3	-	4	635	c.361G>C	c.(361-363)Gtg>Ctg	p.V121L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	121					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.V121L(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACAACAGGCACTAATCCTGGT	0.313																																						uc002uqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(361-363)GTG>CTG		alpha 2 type V collagen preproprotein							70.0	69.0	69.0					2																	189964841		2203	4298	6501	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189964841C>G	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.361G>C	2.37:g.189964841C>G	ENSP00000364000:p.Val121Leu						p.V121L	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		4	636	-			121					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.361G>C	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210209	0.58343	.	.	ENSG00000204262	ENST00000374866	D	0.96265	-3.96	5.44	5.44	0.79542	.	0.141721	0.31566	N	0.007437	D	0.92166	0.7516	N	0.21508	0.67	0.58432	D	0.99999	B	0.33904	0.431	B	0.32533	0.147	D	0.90794	0.4689	9	.	.	.	.	17.0182	0.86425	0.0:1.0:0.0:0.0	.	121	P05997	CO5A2_HUMAN	L	121	ENSP00000364000:V121L	.	V	-	1	0	COL5A2	189673086	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.911000	0.56378	2.543000	0.85770	0.655000	0.94253	GTG		PASS	0.313	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		23	112	23	112	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196620855	196620855	+	Splice_Site	SNP	A	A	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:196620855A>C	ENST00000312428.6	-	62	11687		c.e62+1		DNAH7_ENST00000409063.1_Splice_Site	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.?(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGACGAACTTACCTGCAAGAA	0.368																																						uc002utj.3																			1	Unknown(1)		lung(1)	skin(10)|ovary(2)	12						c.e62+1		dynein, axonemal, heavy chain 7							75.0	70.0	71.0					2																	196620855		1837	4089	5926	SO:0001630	splice_region_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196620855A>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11586+1T>G	2.37:g.196620855A>C						DNAH7_uc002uti.3_Splice_Site_p.Q345_splice	p.Q3862_splice	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			62	11687	-								B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Splice_Site	SNP	ENST00000312428.6	37	c.11586_splice	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.414017	0.62511	.	.	ENSG00000118997	ENST00000312428;ENST00000409063;ENST00000438565	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9369	0.70964	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH7	196329100	1.000000	0.71417	0.975000	0.42487	0.741000	0.42261	8.522000	0.90573	2.193000	0.70182	0.528000	0.53228	.		PASS	0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	Intron	15	94	15	94	---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197171251	197171251	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:197171251G>A	ENST00000260983.3	-	13	2957	c.2775C>T	c.(2773-2775)ctC>ctT	p.L925L	HECW2_ENST00000409111.1_Silent_p.L569L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	925	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L925L(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGGGCTGATGAGGAACTTCA	0.512																																						uc002utm.1																			1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(2773-2775)CTC>CTT		HECT, C2 and WW domain containing E3 ubiquitin							146.0	131.0	137.0					2																	197171251		2203	4300	6503	SO:0001819	synonymous_variant	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197171251G>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2775C>T	2.37:g.197171251G>A						HECW2_uc002utl.1_Silent_p.L569L	p.L925L	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			13	2958	-			925			Interaction with TP73.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	c.2775C>T	CCDS33354.1																																																																																				PASS	0.512	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		23	132	23	132	---	---	---	---
CASP10	843	broad.mit.edu	37	2	202050702	202050702	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:202050702G>A	ENST00000272879.5	+	2	386	c.202G>A	c.(202-204)Gag>Aag	p.E68K	CASP10_ENST00000346817.5_Missense_Mutation_p.E68K|CASP10_ENST00000448480.1_Missense_Mutation_p.E68K|CASP10_ENST00000374650.3_Missense_Mutation_p.E68K|CASP10_ENST00000286186.6_Missense_Mutation_p.E68K|CASP10_ENST00000360132.3_Missense_Mutation_p.E68K|CASP10_ENST00000313728.7_Missense_Mutation_p.E68K|CASP10_ENST00000492363.1_3'UTR	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	68	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.			E -> G (in Ref. 2; AAB46730). {ECO:0000305}.	apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)	p.E68K(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						TCTCTTGGCAGAGGATCTGCT	0.488																																						uc002uxl.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)|pancreas(1)|breast(1)	6						c.(202-204)GAG>AAG		caspase 10 isoform b preproprotein							57.0	57.0	57.0					2																	202050702		2203	4300	6503	SO:0001583	missense	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202050702G>A	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.202G>A	2.37:g.202050702G>A	ENSP00000272879:p.Glu68Lys					CASP10_uc002uxi.1_Missense_Mutation_p.E68K|CASP10_uc010zhn.1_RNA|CASP10_uc002uxj.1_Missense_Mutation_p.E68K|CASP10_uc002uxk.1_Missense_Mutation_p.E68K|CASP10_uc010fta.1_Missense_Mutation_p.E68K|CASP10_uc002uxm.1_Missense_Mutation_p.E68K|CASP10_uc010ftb.1_RNA	p.E68K	NM_032974	NP_116756	Q92851	CASPA_HUMAN			2	620	+			68	E -> G (in Ref. 2; AAB46730).		DED 1.		Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	c.202G>A	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533498	0.45073	.	.	ENSG00000003400	ENST00000286186;ENST00000360132;ENST00000272879;ENST00000374650;ENST00000346817;ENST00000313728;ENST00000448480	D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.13	0.234	0.15390	DEATH-like (2);Death effector (3);	0.840336	0.10949	N	0.616290	T	0.68485	0.3006	N	0.15975	0.35	0.09310	N	1	B;P;P;B;B;P	0.48089	0.126;0.801;0.834;0.204;0.313;0.905	B;B;P;B;B;P	0.45310	0.131;0.215;0.476;0.131;0.184;0.475	T	0.58411	-0.7641	10	0.25106	T	0.35	.	5.6073	0.17387	0.0793:0.4647:0.3124:0.1437	.	68;68;68;68;68;68	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4;Q68HC0	.;.;CASPA_HUMAN;.;.;.	K	68	ENSP00000286186:E68K;ENSP00000353250:E68K;ENSP00000272879:E68K;ENSP00000363781:E68K;ENSP00000237865:E68K;ENSP00000314599:E68K;ENSP00000396835:E68K	ENSP00000272879:E68K	E	+	1	0	CASP10	201758947	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.361000	0.07612	-0.195000	0.10382	-0.176000	0.13171	GAG		PASS	0.488	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		16	77	16	77	---	---	---	---
MPP4	58538	broad.mit.edu	37	2	202521026	202521026	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:202521026C>A	ENST00000409474.3	-	17	1402	c.1195G>T	c.(1195-1197)Gtg>Ttg	p.V399L	MPP4_ENST00000409143.1_Missense_Mutation_p.V341L|MPP4_ENST00000447335.2_Missense_Mutation_p.V392L|MPP4_ENST00000359962.5_Missense_Mutation_p.V399L|MPP4_ENST00000428900.2_Missense_Mutation_p.V375L|MPP4_ENST00000315506.7_Missense_Mutation_p.V355L|MPP4_ENST00000396886.3_Missense_Mutation_p.V324L	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	399					protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)		p.V399L(2)		kidney(1)|lung(11)	12						GTGCAGCACACACTGGCATGC	0.612																																						uc002uyk.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1195-1197)GTG>TTG		membrane protein, palmitoylated 4							22.0	27.0	25.0					2																	202521026		2127	4226	6353	SO:0001583	missense	58538					cytoplasm	protein binding	g.chr2:202521026C>A	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.1195G>T	2.37:g.202521026C>A	ENSP00000387278:p.Val399Leu					MPP4_uc002uyi.3_Missense_Mutation_p.V17L|MPP4_uc010ftj.2_Missense_Mutation_p.V392L|MPP4_uc010zhq.1_Missense_Mutation_p.V368L|MPP4_uc010zhr.1_Missense_Mutation_p.V375L|MPP4_uc010zhs.1_Missense_Mutation_p.V324L|MPP4_uc002uyj.3_Missense_Mutation_p.V364L|MPP4_uc010zht.1_Missense_Mutation_p.V341L|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.V355L	p.V399L	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN			17	1403	-			399					C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	c.1195G>T	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.286051	0.23478	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.04654	3.6;3.58;3.59;3.61;3.58;3.6	5.2	-0.208	0.13185	.	1.148530	0.06397	N	0.718168	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.001;0.0;0.0;0.0;0.001;0.0;0.0;0.002	T	0.44802	-0.9304	10	0.06625	T	0.88	.	3.9992	0.09572	0.1171:0.3987:0.3424:0.1418	.	341;324;375;368;355;392;399;364	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;MPP4_HUMAN;.	L	399;355;324;399;364;328;375;341;392	ENSP00000387278:V399L;ENSP00000319363:V355L;ENSP00000353047:V399L;ENSP00000416781:V375L;ENSP00000387293:V341L;ENSP00000406160:V392L	ENSP00000319363:V355L	V	-	1	0	MPP4	202229271	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.244000	0.08903	0.258000	0.21686	0.655000	0.94253	GTG		PASS	0.612	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			3	0	3	0	---	---	---	---
WDR12	55759	broad.mit.edu	37	2	203760895	203760895	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:203760895G>C	ENST00000261015.4	-	6	1251	c.502C>G	c.(502-504)Ctc>Gtc	p.L168V		NM_018256.3	NP_060726.3			WD repeat domain 12									p.L168V(1)		endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TCCCATAAGAGAATAGTCTGA	0.393																																						uc002uzl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(502-504)CTC>GTC		WD repeat domain 12 protein							95.0	85.0	88.0					2																	203760895		2203	4300	6503	SO:0001583	missense	55759				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr2:203760895G>C	AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"""WD repeat domain containing"""	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.502C>G	2.37:g.203760895G>C	ENSP00000261015:p.Leu168Val					WDR12_uc010ftt.2_Missense_Mutation_p.L168V	p.L168V	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN			6	1252	-			168			WD 2.|Sufficient for nucleolar localization.			Missense_Mutation	SNP	ENST00000261015.4	37	c.502C>G	CCDS2356.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168644	0.38315	.	.	ENSG00000138442	ENST00000261015	T	0.59906	0.23	5.9	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.192987	0.47093	D	0.000246	T	0.38401	0.1039	N	0.11756	0.17	0.40038	D	0.975617	B;B	0.11235	0.004;0.001	B;B	0.12156	0.007;0.007	T	0.26360	-1.0105	10	0.46703	T	0.11	-11.0424	10.889	0.46984	0.07:0.132:0.798:0.0	.	168;168	Q53T99;Q9GZL7	.;WDR12_HUMAN	V	168	ENSP00000261015:L168V	ENSP00000261015:L168V	L	-	1	0	WDR12	203469140	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.645000	0.46621	2.794000	0.96219	0.650000	0.86243	CTC		PASS	0.393	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256		17	124	17	124	---	---	---	---
CTLA4	1493	broad.mit.edu	37	2	204737534	204737534	+	Nonstop_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:204737534G>T	ENST00000302823.3	+	4	828	c.671G>T	c.(670-672)tGa>tTa	p.*224L	CTLA4_ENST00000487393.1_3'UTR|CTLA4_ENST00000427473.2_3'UTR|CTLA4_ENST00000472206.1_3'UTR	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	0					B cell receptor signaling pathway (GO:0050853)|cellular response to DNA damage stimulus (GO:0006974)|immune response (GO:0006955)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of immune response (GO:0050777)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of apoptotic process (GO:0043065)|T cell costimulation (GO:0031295)	clathrin-coated endocytic vesicle (GO:0045334)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.*224L(1)		large_intestine(4)|lung(4)|skin(1)	9					Ipilimumab(DB06186)	CCCATCAATTGAGAAACCATT	0.363																																						uc002vak.1																			1	Nonstop extension(1)		lung(1)		0						c.(670-672)TGA>TTA		cytotoxic T-lymphocyte-associated protein 4	Abatacept(DB01281)						66.0	67.0	67.0					2																	204737534		2203	4300	6503	SO:0001578	stop_lost	1493				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm		g.chr2:204737534G>T		CCDS2362.1, CCDS42803.1	2q33	2014-02-03			ENSG00000163599	ENSG00000163599		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	2505	protein-coding gene	gene with protein product		123890	"""celiac disease 3"", ""insulin-dependent diabetes mellitus 12"""	CELIAC3, IDDM12		3220103, 8817351	Standard	NM_005214		Approved	CD152, CD, GSE, CD28, ICOS	uc002vak.2	P16410	OTTHUMG00000132877	ENST00000302823.3:c.671G>T	2.37:g.204737534G>T	ENSP00000303939:p.*224Leuext*16					CTLA4_uc002val.1_3'UTR|CTLA4_uc010fty.1_3'UTR|CTLA4_uc010ftz.1_RNA	p.*224L	NM_005214	NP_005205	P16410	CTLA4_HUMAN			4	828	+			224					A0N1S0|E9PDH0|O95653|Q0PP65|Q52MC1|Q53TD5|Q5S005|Q8WXJ1|Q96P43|Q9UKN9	Nonstop_Mutation	SNP	ENST00000302823.3	37	c.671G>T	CCDS2362.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587342	0.66105	.	.	ENSG00000163599	ENST00000302823;ENST00000541886	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0211	0.86434	0.0:0.0:1.0:0.0	.	.	.	.	L	224;57	.	.	X	+	2	2	CTLA4	204445779	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	2.405000	0.44548	2.700000	0.92200	0.561000	0.74099	TGA		PASS	0.363	CTLA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256365.1	NM_005214		24	72	24	72	---	---	---	---
GPR1	2825	broad.mit.edu	37	2	207041686	207041686	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:207041686A>C	ENST00000407325.2	-	3	648	c.286T>G	c.(286-288)Tat>Gat	p.Y96D	GPR1_ENST00000437420.1_Missense_Mutation_p.Y96D	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	96					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.Y96D(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)		ATGGCCACATAGGAGATGTAC	0.478																																						uc002vbl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(286-288)TAT>GAT		G protein-coupled receptor 1							133.0	129.0	130.0					2																	207041686		2203	4300	6503	SO:0001583	missense	2825					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:207041686A>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.286T>G	2.37:g.207041686A>C	ENSP00000384345:p.Tyr96Asp					GPR1_uc010fue.2_Missense_Mutation_p.Y96D|GPR1_uc010fuf.2_Missense_Mutation_p.Y96D	p.Y96D	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	672	-		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)	96			Extracellular (Potential).		A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	ENST00000407325.2	37	c.286T>G	CCDS2368.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.982274	0.53827	.	.	ENSG00000183671	ENST00000407325;ENST00000437420;ENST00000442134;ENST00000451790;ENST00000447845	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.79890	0.4524	L	0.43152	1.355	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.81182	-0.1049	10	0.62326	D	0.03	.	16.2311	0.82343	1.0:0.0:0.0:0.0	.	96	P46091	GPR1_HUMAN	D	96	ENSP00000384345:Y96D;ENSP00000397535:Y96D;ENSP00000414836:Y96D;ENSP00000391146:Y96D;ENSP00000414524:Y96D	ENSP00000384345:Y96D	Y	-	1	0	GPR1	206749931	1.000000	0.71417	0.999000	0.59377	0.531000	0.34715	7.522000	0.81844	2.234000	0.73211	0.528000	0.53228	TAT		PASS	0.478	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		85	191	85	191	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207174260	207174260	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:207174260G>C	ENST00000374423.3	+	5	5394	c.5008G>C	c.(5008-5010)Gaa>Caa	p.E1670Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1670							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E1670Q(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTTAATTTGGAAGACACTTC	0.408																																						uc002vbp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(5008-5010)GAA>CAA		zinc finger, DBF-type containing 2							92.0	91.0	92.0					2																	207174260		1849	4094	5943	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207174260G>C	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5008G>C	2.37:g.207174260G>C	ENSP00000363545:p.Glu1670Gln						p.E1670Q	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	5258	+			1670					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.5008G>C	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273022	0.23221	.	.	ENSG00000204186	ENST00000374423	T	0.61510	0.1	4.07	1.11	0.20524	.	.	.	.	.	T	0.50309	0.1608	M	0.64404	1.975	0.09310	N	1	P	0.36065	0.535	B	0.35813	0.211	T	0.45249	-0.9274	9	0.62326	D	0.03	.	5.6816	0.17780	0.3802:0.0:0.6198:0.0	.	1670	Q9HCK1	ZDBF2_HUMAN	Q	1670	ENSP00000363545:E1670Q	ENSP00000363545:E1670Q	E	+	1	0	ZDBF2	206882505	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	0.242000	0.18087	0.234000	0.21139	-0.345000	0.07892	GAA		PASS	0.408	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		3	113	3	113	---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207459510	207459510	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:207459510G>A	ENST00000264377.3	+	23	2456	c.2128G>A	c.(2128-2130)Gat>Aat	p.D710N	ADAM23_ENST00000374415.3_Missense_Mutation_p.D710N|ADAM23_ENST00000374416.1_Missense_Mutation_p.D710N	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	710					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D710N(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CTATGTAGAAGATGGAACGCC	0.428																																					Melanoma(194;1127 2130 19620 24042 27855)	uc002vbq.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(2128-2130)GAT>AAT		ADAM metallopeptidase domain 23 preproprotein							226.0	215.0	219.0					2																	207459510		2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207459510G>A	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2128G>A	2.37:g.207459510G>A	ENSP00000264377:p.Asp710Asn					ADAM23_uc010ziv.1_RNA	p.D710N	NM_003812	NP_003803	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	23	2351	+			710			Extracellular (Potential).		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.2128G>A	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	G	33	5.270135	0.95429	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.02446	4.31;4.3;4.29	5.91	5.91	0.95273	ADAM, cysteine-rich (1);	0.000000	0.64402	D	0.000004	T	0.07369	0.0186	M	0.71920	2.185	0.80722	D	1	D	0.54601	0.967	B	0.44108	0.441	T	0.30387	-0.9980	10	0.32370	T	0.25	.	19.2892	0.94092	0.0:0.0:1.0:0.0	.	710	O75077	ADA23_HUMAN	N	710;710;604;710	ENSP00000264377:D710N;ENSP00000363537:D710N;ENSP00000363536:D710N	ENSP00000264377:D710N	D	+	1	0	ADAM23	207167755	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.869000	0.99810	2.804000	0.96469	0.650000	0.86243	GAT		PASS	0.428	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		28	160	28	160	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211476995	211476995	+	Missense_Mutation	SNP	C	C	A	rs368785491		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:211476995C>A	ENST00000233072.5	+	20	2742	c.2546C>A	c.(2545-2547)aCg>aAg	p.T849K	CPS1_ENST00000430249.2_Missense_Mutation_p.T855K|CPS1_ENST00000451903.2_Missense_Mutation_p.T398K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	849					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.T855K(2)|p.T849K(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CCAAGCAGCACGCGTATCTAT	0.428																																						uc002vee.3																			4	Substitution - Missense(4)		lung(4)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(2545-2547)ACG>AAG		carbamoyl-phosphate synthetase 1 isoform b							100.0	98.0	99.0					2																	211476995		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211476995C>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2546C>A	2.37:g.211476995C>A	ENSP00000233072:p.Thr849Lys					CPS1_uc010fur.2_Missense_Mutation_p.T855K|CPS1_uc010fus.2_Missense_Mutation_p.T398K	p.T849K	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	20	2678	+			849					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2546C>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	1.775	-0.483409	0.04383	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.96200	-3.94;-3.94;-3.94	5.41	2.62	0.31277	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (3);	0.046415	0.85682	D	0.000000	D	0.85643	0.5744	N	0.05414	-0.055	0.47778	D	0.999512	B;B	0.13594	0.008;0.002	B;B	0.15052	0.012;0.012	T	0.75602	-0.3261	10	0.02654	T	1	-0.0891	10.1867	0.43002	0.0:0.7315:0.0:0.2685	.	859;849	Q59HF8;P31327	.;CPSM_HUMAN	K	855;857;849;398	ENSP00000402608:T855K;ENSP00000233072:T849K;ENSP00000406136:T398K	ENSP00000233072:T849K	T	+	2	0	CPS1	211185240	0.971000	0.33674	0.990000	0.47175	0.620000	0.37586	2.014000	0.40951	0.257000	0.21650	0.557000	0.71058	ACG		PASS	0.428	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			53	142	53	142	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211502462	211502462	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:211502462G>T	ENST00000233072.5	+	22	2920	c.2724G>T	c.(2722-2724)aaG>aaT	p.K908N	CPS1_ENST00000430249.2_Missense_Mutation_p.K914N|CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000451903.2_Missense_Mutation_p.K457N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	908					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.K914N(1)|p.K908N(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AAAGGGCAAAGGAGATTGGGT	0.418																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(2722-2724)AAG>AAT		carbamoyl-phosphate synthetase 1 isoform b							81.0	91.0	88.0					2																	211502462		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211502462G>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2724G>T	2.37:g.211502462G>T	ENSP00000233072:p.Lys908Asn					CPS1_uc010fur.2_Missense_Mutation_p.K914N|CPS1_uc010fus.2_Missense_Mutation_p.K457N	p.K908N	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	22	2856	+			908					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2724G>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210517	0.39102	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.98666	-5.06;-5.06;-5.06	5.47	2.66	0.31614	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (3);	0.000000	0.85682	D	0.000000	D	0.99453	0.9806	H	0.99299	4.505	0.45161	D	0.998178	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98262	1.0499	10	0.87932	D	0	-7.5868	10.1942	0.43045	0.2914:0.0:0.7086:0.0	.	918;908	Q59HF8;P31327	.;CPSM_HUMAN	N	914;916;908;457	ENSP00000402608:K914N;ENSP00000233072:K908N;ENSP00000406136:K457N	ENSP00000233072:K908N	K	+	3	2	CPS1	211210707	1.000000	0.71417	0.999000	0.59377	0.077000	0.17291	1.548000	0.36201	0.336000	0.23639	0.650000	0.86243	AAG		PASS	0.418	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			32	154	32	154	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211512728	211512728	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:211512728G>A	ENST00000233072.5	+	26	3479	c.3283G>A	c.(3283-3285)Gtc>Atc	p.V1095I	CPS1_ENST00000430249.2_Missense_Mutation_p.V1101I|CPS1_ENST00000451903.2_Missense_Mutation_p.V644I	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1095	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.V1095I(1)|p.V1101I(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CTTCTCAGCTGTCTTGGATGA	0.463																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(3283-3285)GTC>ATC		carbamoyl-phosphate synthetase 1 isoform b							103.0	98.0	99.0					2																	211512728		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211512728G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3283G>A	2.37:g.211512728G>A	ENSP00000233072:p.Val1095Ile					CPS1_uc010fur.2_Missense_Mutation_p.V1101I|CPS1_uc010fus.2_Missense_Mutation_p.V644I	p.V1095I	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	26	3415	+			1095			ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.3283G>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153763	0.38021	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97161	-4.27;-4.27;-4.27	6.02	4.0	0.46444	ATP-grasp fold (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.109411	0.64402	N	0.000011	D	0.89040	0.6602	N	0.01761	-0.735	0.36040	D	0.840046	B;B	0.11235	0.004;0.004	B;B	0.12156	0.007;0.007	D	0.84729	0.0744	10	0.51188	T	0.08	-4.5408	8.8682	0.35300	0.2513:0.0:0.7487:0.0	.	1105;1095	Q59HF8;P31327	.;CPSM_HUMAN	I	1101;1103;1095;644	ENSP00000402608:V1101I;ENSP00000233072:V1095I;ENSP00000406136:V644I	ENSP00000233072:V1095I	V	+	1	0	CPS1	211220973	1.000000	0.71417	0.744000	0.31058	0.897000	0.52465	3.371000	0.52379	0.685000	0.31468	0.591000	0.81541	GTC		PASS	0.463	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			60	144	60	144	---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212483998	212483998	+	Silent	SNP	A	A	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:212483998A>C	ENST00000342788.4	-	19	2515	c.2205T>G	c.(2203-2205)ggT>ggG	p.G735G	ERBB4_ENST00000402597.1_Silent_p.G725G|ERBB4_ENST00000436443.1_Silent_p.G735G	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	735	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G735G(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GTACCCAAATACCCTTTGGGG	0.333										TSP Lung(8;0.080)																												uc002veg.1																			1	Substitution - coding silent(1)		lung(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(2203-2205)GGT>GGG		v-erb-a erythroblastic leukemia viral oncogene							76.0	76.0	76.0					2																	212483998		2203	4300	6503	SO:0001819	synonymous_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212483998A>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2205T>G	2.37:g.212483998A>C		TSP Lung(8;0.080)				ERBB4_uc002veh.1_Silent_p.G735G|ERBB4_uc010zji.1_Silent_p.G725G|ERBB4_uc010zjj.1_Silent_p.G725G|ERBB4_uc010fut.1_Silent_p.G735G	p.G735G	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	19	2303	-		Renal(323;0.06)|Lung NSC(271;0.197)	735			Protein kinase.|Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.2205T>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	A	3.407	-0.120984	0.06838	.	.	ENSG00000178568	ENST00000260943	.	.	.	4.91	-9.81	0.00487	.	.	.	.	.	T	0.41096	0.1144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48007	-0.9072	4	.	.	.	.	4.1307	0.10148	0.2971:0.0725:0.4163:0.2141	.	.	.	.	G	725	.	.	V	-	2	0	ERBB4	212192243	0.003000	0.15002	0.235000	0.24058	0.558000	0.35554	-1.209000	0.03002	-2.821000	0.00343	-2.200000	0.00306	GTA		PASS	0.333	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		16	116	16	116	---	---	---	---
BARD1	580	broad.mit.edu	37	2	215595156	215595156	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:215595156G>C	ENST00000260947.4	-	10	2114	c.1980C>G	c.(1978-1980)agC>agG	p.S660R	BARD1_ENST00000432456.1_Missense_Mutation_p.S31R|BARD1_ENST00000449967.2_Missense_Mutation_p.S516R	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	660					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S660R(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTTGAGCCTGCTTCTGCGTG	0.363									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002veu.2																			2	Substitution - Missense(2)		lung(2)	lung(2)	2						c.(1978-1980)AGC>AGG		BRCA1 associated RING domain 1							120.0	119.0	120.0					2																	215595156		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215595156G>C		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1980C>G	2.37:g.215595156G>C	ENSP00000260947:p.Ser660Arg					BARD1_uc010zjm.1_Missense_Mutation_p.S516R	p.S660R	NM_000465	NP_000456	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	10	2115	-		Renal(323;0.0243)	660					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.1980C>G	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146708	0.57151	.	.	ENSG00000138376	ENST00000260947;ENST00000432456;ENST00000449967;ENST00000421162	T;T;T;T	0.59083	0.29;1.77;1.72;0.29	5.77	4.89	0.63831	BRCT (1);	0.148628	0.64402	D	0.000011	T	0.66297	0.2775	L	0.58101	1.795	0.33368	D	0.573165	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.74103	-0.3773	10	0.56958	D	0.05	-19.8577	3.8737	0.09047	0.1314:0.1388:0.5864:0.1434	.	516;660	E7EUI3;Q99728	.;BARD1_HUMAN	R	660;31;516;209	ENSP00000260947:S660R;ENSP00000405020:S31R;ENSP00000406752:S516R;ENSP00000392245:S209R	ENSP00000260947:S660R	S	-	3	2	BARD1	215303401	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.411000	0.34702	2.728000	0.93425	0.650000	0.86243	AGC		PASS	0.363	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		46	122	46	122	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218682809	218682809	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:218682809G>A	ENST00000171887.4	-	24	4386	c.3934C>T	c.(3934-3936)Ccc>Tcc	p.P1312S	TNS1_ENST00000430930.1_Missense_Mutation_p.P1291S|TNS1_ENST00000419504.1_Missense_Mutation_p.P1299S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1312					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.P1312S(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGGCTGCCGGGAACCACAGAT	0.632																																						uc002vgt.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(3934-3936)CCC>TCC		tensin							24.0	23.0	24.0					2																	218682809		2202	4298	6500	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218682809G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3934C>T	2.37:g.218682809G>A	ENSP00000171887:p.Pro1312Ser					TNS1_uc002vgr.2_Missense_Mutation_p.P1299S|TNS1_uc002vgs.2_Missense_Mutation_p.P1291S|TNS1_uc010zjv.1_Missense_Mutation_p.P1291S	p.P1312S	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	24	4332	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1312					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.3934C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656374	0.67586	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.90900	-2.75;2.29;-2.75;-2.75	5.13	2.29	0.28610	.	0.131649	0.51477	N	0.000089	T	0.80166	0.4573	L	0.29908	0.895	0.80722	D	1	B;B;P	0.39535	0.163;0.257;0.677	B;B;B	0.33890	0.046;0.074;0.172	T	0.73319	-0.4020	10	0.11485	T	0.65	.	9.9056	0.41375	0.2837:0.0:0.7163:0.0	.	1312;1291;1299	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	S	1312;450;1299;1291	ENSP00000171887:P1312S;ENSP00000394171:P450S;ENSP00000408724:P1299S;ENSP00000406016:P1291S	ENSP00000171887:P1312S	P	-	1	0	TNS1	218391054	1.000000	0.71417	0.988000	0.46212	0.989000	0.77384	3.773000	0.55333	0.558000	0.29135	0.563000	0.77884	CCC		PASS	0.632	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		4	28	4	28	---	---	---	---
CXCR2	3579	broad.mit.edu	37	2	219000499	219000499	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:219000499C>T	ENST00000318507.2	+	3	1402	c.975C>T	c.(973-975)ctC>ctT	p.L325L		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	325					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)	p.L325L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GCCATGGACTCCTCAAGATTC	0.542																																						uc002vgz.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)	2						c.(973-975)CTC>CTT		interleukin 8 receptor beta							94.0	92.0	92.0					2																	219000499		2203	4300	6503	SO:0001819	synonymous_variant	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:219000499C>T	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.975C>T	2.37:g.219000499C>T						CXCR2_uc002vha.1_Silent_p.L325L|CXCR2_uc002vhb.1_Silent_p.L325L	p.L325L	NM_001557	NP_001548	P25025	CXCR2_HUMAN			4	1200	+			325			Cytoplasmic (Potential).		Q8IUZ1|Q9P2T6|Q9P2T7	Silent	SNP	ENST00000318507.2	37	c.975C>T	CCDS2408.1																																																																																				PASS	0.542	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		32	151	32	151	---	---	---	---
ATG9A	79065	broad.mit.edu	37	2	220091598	220091598	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:220091598C>G	ENST00000409618.1	-	5	644	c.205G>C	c.(205-207)Gag>Cag	p.E69Q	ATG9A_ENST00000396761.2_Missense_Mutation_p.E69Q|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000488833.1_5'UTR|ANKZF1_ENST00000409849.1_5'Flank|ATG9A_ENST00000361242.4_Missense_Mutation_p.E69Q|ANKZF1_ENST00000323348.5_5'Flank|ATG9A_ENST00000409422.1_Missense_Mutation_p.E8Q			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	69					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)		p.E69Q(1)		endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TACATGAGCTCAAAGATCTCC	0.408																																						uc002vke.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(205-207)GAG>CAG		APG9 autophagy 9-like 1							104.0	100.0	101.0					2																	220091598		1941	4129	6070	SO:0001583	missense	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220091598C>G	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.205G>C	2.37:g.220091598C>G	ENSP00000386710:p.Glu69Gln					ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.E69Q|ANKZF1_uc010zkv.1_5'Flank|ANKZF1_uc010zkw.1_5'Flank|ANKZF1_uc002vkg.2_5'Flank|ANKZF1_uc002vkh.2_5'Flank	p.E69Q	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	391	-		Renal(207;0.0474)	69			Helical; (Potential).		Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	37	c.205G>C	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692764	0.48202	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000436856;ENST00000457841;ENST00000428226;ENST00000432520;ENST00000439812;ENST00000443140;ENST00000434939	T;T;T;T;T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.80929	0.4718	L	0.41415	1.275	0.58432	D	0.999998	D	0.63880	0.993	D	0.70227	0.968	T	0.77778	-0.2460	10	0.30078	T	0.28	.	18.5672	0.91120	0.0:1.0:0.0:0.0	.	69	Q7Z3C6	ATG9A_HUMAN	Q	69;69;69;8;69;69;69;69;69;69;69	ENSP00000379983:E69Q;ENSP00000386710:E69Q;ENSP00000355173:E69Q;ENSP00000386535:E8Q;ENSP00000401530:E69Q;ENSP00000404750:E69Q;ENSP00000409164:E69Q;ENSP00000406785:E69Q;ENSP00000413569:E69Q;ENSP00000416435:E69Q;ENSP00000394345:E69Q	ENSP00000355173:E69Q	E	-	1	0	ATG9A	219799842	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.647000	0.83462	2.617000	0.88574	0.491000	0.48974	GAG		PASS	0.408	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		5	159	5	159	---	---	---	---
GLB1L	79411	broad.mit.edu	37	2	220103023	220103023	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:220103023G>C	ENST00000295759.7	-	14	1603	c.1290C>G	c.(1288-1290)ttC>ttG	p.F430L	GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_Missense_Mutation_p.F340L|GLB1L_ENST00000356283.3_Missense_Mutation_p.F340L|GLB1L_ENST00000392089.2_Missense_Mutation_p.F430L			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	430					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.F430L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGGCACCCAGAATGGTGTTG	0.488																																						uc002vkm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1288-1290)TTC>TTG		galactosidase, beta 1-like precursor							163.0	146.0	152.0					2																	220103023		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220103023G>C		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1290C>G	2.37:g.220103023G>C	ENSP00000295759:p.Phe430Leu					GLB1L_uc002vkk.2_Missense_Mutation_p.F187L|GLB1L_uc010zkx.1_Missense_Mutation_p.F340L|GLB1L_uc002vkn.2_Missense_Mutation_p.F430L	p.F430L	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	1529	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	430					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.1290C>G	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	G	4.658	0.122246	0.08931	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.96073	-3.9;-3.59;-3.9;-3.59	5.41	0.317	0.15861	.	0.478752	0.25321	N	0.031508	T	0.75488	0.3856	N	0.00242	-1.785	0.32384	N	0.554209	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.73360	-0.4007	10	0.02654	T	1	-0.2727	7.8877	0.29659	0.0668:0.4666:0.3565:0.1101	.	340;430	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	L	430;340;430;340	ENSP00000295759:F430L;ENSP00000386354:F340L;ENSP00000375939:F430L;ENSP00000348628:F340L	ENSP00000295759:F430L	F	-	3	2	GLB1L	219811267	0.991000	0.36638	0.539000	0.28077	0.992000	0.81027	0.142000	0.16096	-0.113000	0.11958	0.655000	0.94253	TTC		PASS	0.488	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		70	141	70	141	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220161194	220161194	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:220161194G>A	ENST00000295718.2	-	17	2595	c.2355C>T	c.(2353-2355)ggC>ggT	p.G785G	AC114803.3_ENST00000417355.1_RNA|MIR153-1_ENST00000384914.1_RNA|PTPRN_ENST00000423636.2_Silent_p.G695G|PTPRN_ENST00000497977.1_5'UTR|PTPRN_ENST00000409251.3_Silent_p.G756G	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	785	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G785G(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGGACAGCGGGCCCTGCGTGG	0.597																																						uc002vkz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(2353-2355)GGC>GGT		protein tyrosine phosphatase, receptor type, N							81.0	76.0	78.0					2																	220161194		2203	4300	6503	SO:0001819	synonymous_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220161194G>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2355C>T	2.37:g.220161194G>A						PTPRN_uc010zlc.1_Silent_p.G695G|PTPRN_uc002vla.2_Silent_p.G756G|uc010zld.1_5'Flank|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank	p.G785G	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	17	2444	-		Renal(207;0.0474)	785			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	c.2355C>T	CCDS2440.1																																																																																				PASS	0.597	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			44	104	44	104	---	---	---	---
CUL3	8452	broad.mit.edu	37	2	225371641	225371641	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:225371641C>G	ENST00000264414.4	-	7	1301	c.963G>C	c.(961-963)ttG>ttC	p.L321F	CUL3_ENST00000409777.1_Missense_Mutation_p.L297F|CUL3_ENST00000409096.1_Missense_Mutation_p.L297F|CUL3_ENST00000344951.4_Missense_Mutation_p.L255F	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	321					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.L321F(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTTGCTCCCTCAAATAGGAAC	0.378																																						uc002vny.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.(961-963)TTG>TTC		cullin 3							98.0	91.0	93.0					2																	225371641		2203	4300	6503	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225371641C>G	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.963G>C	2.37:g.225371641C>G	ENSP00000264414:p.Leu321Phe					CUL3_uc010zls.1_Missense_Mutation_p.L255F|CUL3_uc010fwy.1_Missense_Mutation_p.L327F	p.L321F	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	7	1347	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	321					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.963G>C	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572627	0.65765	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.69	1.39	0.22231	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58509	0.2127	M	0.90650	3.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.995;0.995	T	0.65207	-0.6224	10	0.87932	D	0	.	11.4784	0.50312	0.0:0.7151:0.0:0.2849	.	255;299;321	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	F	321;255;297;297	ENSP00000264414:L321F;ENSP00000343601:L255F;ENSP00000387200:L297F;ENSP00000386525:L297F	ENSP00000264414:L321F	L	-	3	2	CUL3	225079885	0.985000	0.35326	1.000000	0.80357	0.998000	0.95712	0.295000	0.19065	0.364000	0.24374	0.591000	0.81541	TTG		PASS	0.378	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			50	106	50	106	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230638826	230638827	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:230638826_230638827TC>AA	ENST00000283943.5	-	37	5633_5634	c.5455_5456GA>TT	c.(5455-5457)GAg>TTg	p.E1819L	TRIP12_ENST00000389045.3_Missense_Mutation_p.E1549L|TRIP12_ENST00000389044.4_Missense_Mutation_p.E1867L	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1819					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.E1819*(1)|p.E1819V(1)|p.E1819L(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TAGATACTCCTCTAAATTGTGG	0.465																																						uc002vpw.1																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(5455-5457)GAG>GTG|c.(5455-5457)GAG>TAG		thyroid hormone receptor interactor 12																																				SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230638826T>A|g.chr2:230638827C>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5455_5456delinsAA	2.37:g.230638826_230638827delinsAA	ENSP00000283943:p.Glu1819Leu					TRIP12_uc002vpx.1_Missense_Mutation_p.E1867V|TRIP12_uc002vpy.1_Missense_Mutation_p.E1549V|TRIP12_uc002vpx.1_Nonsense_Mutation_p.E1867*|TRIP12_uc002vpy.1_Nonsense_Mutation_p.E1549*	p.E1819V|p.E1819*	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	37	5565|5564	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1819					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000283943.5	37	c.5456A>T|c.5455G>T	CCDS33391.1																																																																																				PASS	0.465	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		44	132|134	44	132	---	---	---	---
HTR2B	3357	broad.mit.edu	37	2	231973603	231973603	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:231973603G>C	ENST00000258400.3	-	4	1586	c.1074C>G	c.(1072-1074)ctC>ctG	p.L358L	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000488354.1_3'UTR	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	358					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.L358L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	GGAGCATTTGGAGAGTAGTTT	0.383																																					Ovarian(155;1331 1891 12853 14038 34991)	uc002vro.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1072-1074)CTC>CTG		5-hydroxytryptamine (serotonin) receptor 2B	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)						77.0	83.0	81.0					2																	231973603		2203	4300	6503	SO:0001819	synonymous_variant	3357				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	g.chr2:231973603G>C		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5294	protein-coding gene	gene with protein product		601122	"""5-hydroxytryptamine (serotonin) receptor 2B"""			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.1074C>G	2.37:g.231973603G>C						PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Silent_p.L291L	p.L358L	NM_000867	NP_000858	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	4	1579	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	358			Extracellular (By similarity).		B2R9D5|Q53TI1|Q62221|Q6P523	Silent	SNP	ENST00000258400.3	37	c.1074C>G	CCDS2483.1																																																																																				PASS	0.383	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867		3	198	3	198	---	---	---	---
LRRFIP1	9208	broad.mit.edu	37	2	238672274	238672274	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:238672274G>A	ENST00000392000.4	+	11	2035	c.1918G>A	c.(1918-1920)Gaa>Aaa	p.E640K	LRRFIP1_ENST00000244815.5_Missense_Mutation_p.E616K|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.E584K|LRRFIP1_ENST00000308482.9_Intron	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	640					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)	p.E640K(1)|p.E616K(1)		NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGAAAGCAGTGAAAATGTTGA	0.423																																						uc002vxe.2																			2	Substitution - Missense(2)		lung(2)	breast(3)	3						c.(1918-1920)GAA>AAA		leucine rich repeat (in FLII) interacting							65.0	66.0	66.0					2																	238672274		2203	4300	6503	SO:0001583	missense	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238672274G>A	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.1918G>A	2.37:g.238672274G>A	ENSP00000375857:p.Glu640Lys					LRRFIP1_uc002vxc.2_Intron|LRRFIP1_uc010znm.1_Intron|LRRFIP1_uc002vxd.2_Missense_Mutation_p.E616K|LRRFIP1_uc002vxf.2_Missense_Mutation_p.E584K	p.E640K	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	11	2210	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	640					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	c.1918G>A	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305351	0.81247	.	.	ENSG00000124831	ENST00000289175;ENST00000244815;ENST00000392000	T;T;T	0.17370	2.28;2.3;2.32	5.62	4.74	0.60224	.	1.890820	0.02755	N	0.117881	T	0.35941	0.0949	L	0.53249	1.67	0.09310	N	1	D;D;D	0.56746	0.977;0.961;0.977	P;P;P	0.55923	0.787;0.617;0.787	T	0.30794	-0.9966	10	0.38643	T	0.18	-6.8633	13.0376	0.58881	0.0769:0.0:0.9231:0.0	.	584;640;616	Q32MZ4-3;Q32MZ4;Q32MZ4-2	.;LRRF1_HUMAN;.	K	584;616;640	ENSP00000289175:E584K;ENSP00000244815:E616K;ENSP00000375857:E640K	ENSP00000244815:E616K	E	+	1	0	LRRFIP1	238337013	0.000000	0.05858	0.011000	0.14972	0.041000	0.13682	0.122000	0.15687	2.658000	0.90341	0.655000	0.94253	GAA		PASS	0.423	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		11	38	11	38	---	---	---	---
PASK	23178	broad.mit.edu	37	2	242066101	242066101	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:242066101G>A	ENST00000405260.1	-	10	2927	c.2229C>T	c.(2227-2229)ctC>ctT	p.L743L	PASK_ENST00000544142.1_Silent_p.L557L|PASK_ENST00000539818.1_Silent_p.L527L|PASK_ENST00000358649.4_Silent_p.L743L|PASK_ENST00000403638.3_Silent_p.L743L|PASK_ENST00000234040.4_Silent_p.L743L	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	743					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.L743L(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGAGTTCCTTGAGGTTCCAGG	0.547																																						uc002wao.1																			4	Substitution - coding silent(4)		urinary_tract(2)|lung(2)	ovary(4)|lung(1)|skin(1)	6						c.(2227-2229)CTC>CTT		PAS domain containing serine/threonine kinase							74.0	72.0	73.0					2																	242066101		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242066101G>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2229C>T	2.37:g.242066101G>A						PASK_uc010zol.1_Silent_p.L557L|PASK_uc010zom.1_Silent_p.L708L|PASK_uc010fzl.1_Silent_p.L743L|PASK_uc010zon.1_Silent_p.L524L|PASK_uc002wap.2_Silent_p.L286L|PASK_uc002waq.2_Silent_p.L743L	p.L743L	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	2321	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	743					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.2229C>T	CCDS2545.1																																																																																				PASS	0.547	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		47	98	47	98	---	---	---	---
FARP2	9855	broad.mit.edu	37	2	242312635	242312635	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr2:242312635G>C	ENST00000264042.3	+	2	283	c.113G>C	c.(112-114)aGa>aCa	p.R38T	FARP2_ENST00000479427.1_3'UTR|FARP2_ENST00000545004.1_Missense_Mutation_p.R38T|FARP2_ENST00000373287.4_Missense_Mutation_p.R38T	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	38					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R38T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CTCTTGCCCAGAATGCAAGAG	0.507																																						uc002wbi.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(112-114)AGA>ACA		FERM, RhoGEF and pleckstrin domain protein 2							70.0	71.0	71.0					2																	242312635		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242312635G>C	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.113G>C	2.37:g.242312635G>C	ENSP00000264042:p.Arg38Thr					FARP2_uc010zoq.1_Missense_Mutation_p.R38T|FARP2_uc010zor.1_Missense_Mutation_p.R38T	p.R38T	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	2	230	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	38					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.113G>C	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	G	1.466	-0.561132	0.03939	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000418082;ENST00000445489	T;T;T;T;T	0.81078	-0.87;-1.45;-1.45;-0.06;-0.81	5.65	1.25	0.21368	.	0.743369	0.13124	N	0.412005	T	0.66056	0.2751	L	0.35414	1.06	0.09310	N	1	P;B;B	0.38504	0.634;0.088;0.361	B;B;B	0.39465	0.3;0.026;0.157	T	0.53592	-0.8417	10	0.08381	T	0.77	.	6.3403	0.21319	0.5688:0.0:0.4312:0.0	.	38;38;38	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	T	38	ENSP00000264042:R38T;ENSP00000443876:R38T;ENSP00000362384:R38T;ENSP00000393376:R38T;ENSP00000388167:R38T	ENSP00000264042:R38T	R	+	2	0	FARP2	241961308	0.022000	0.18835	0.000000	0.03702	0.153000	0.21895	0.989000	0.29629	0.314000	0.23086	0.563000	0.77884	AGA		PASS	0.507	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			12	92	12	92	---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	3081838	3081838	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:3081838G>T	ENST00000397461.1	+	19	2665	c.2281G>T	c.(2281-2283)Gtg>Ttg	p.V761L	CNTN4_ENST00000358480.3_Missense_Mutation_p.V542L|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000418658.1_Missense_Mutation_p.V761L|CNTN4_ENST00000427331.1_Missense_Mutation_p.V761L|CNTN4_ENST00000448906.2_Missense_Mutation_p.V433L|CNTN4_ENST00000397459.2_Missense_Mutation_p.V433L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	761	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.V433L(1)|p.V761L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTCTAGATACGTGTTCAGGAA	0.522																																						uc003bpc.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(2281-2283)GTG>TTG		contactin 4 isoform a precursor							144.0	128.0	133.0					3																	3081838		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3081838G>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2281G>T	3.37:g.3081838G>T	ENSP00000380602:p.Val761Leu					CNTN4_uc003bpb.1_Missense_Mutation_p.V432L|CNTN4_uc003bpe.2_Missense_Mutation_p.V433L|CNTN4_uc003bpf.2_Missense_Mutation_p.V432L|CNTN4_uc003bpg.2_Missense_Mutation_p.V17L	p.V761L	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	19	2502	+		Ovarian(110;0.156)	761			Fibronectin type-III 2.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.2281G>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	33	5.197061	0.94960	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	4.98	4.98	0.66077	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.80616	2.505	0.80722	D	1	D;D	0.62365	0.971;0.991	P;P	0.57371	0.819;0.814	T	0.72459	-0.4287	10	0.59425	D	0.04	.	18.6427	0.91400	0.0:0.0:1.0:0.0	.	760;761	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	L	761;761;761;542;433;433	ENSP00000396010:V761L;ENSP00000380602:V761L;ENSP00000413642:V761L;ENSP00000351267:V542L;ENSP00000380600:V433L;ENSP00000392077:V433L	ENSP00000351267:V542L	V	+	1	0	CNTN4	3056838	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	7.782000	0.85680	2.455000	0.83008	0.655000	0.94253	GTG		PASS	0.522	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			62	112	62	112	---	---	---	---
CAV3	859	broad.mit.edu	37	3	8787497	8787497	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:8787497G>A	ENST00000343849.2	+	2	477	c.400G>A	c.(400-402)Gcg>Acg	p.A134T	CAV3_ENST00000472766.1_Intron|SSUH2_ENST00000478513.1_5'Flank|CAV3_ENST00000397368.2_Missense_Mutation_p.A134T	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	134					actin filament organization (GO:0007015)|cardiac muscle cell development (GO:0055013)|caveola assembly (GO:0070836)|cell differentiation (GO:0030154)|cell growth (GO:0016049)|cholesterol homeostasis (GO:0042632)|cytoplasmic microtubule organization (GO:0031122)|endocytosis (GO:0006897)|establishment of protein localization to plasma membrane (GO:0090002)|glucose homeostasis (GO:0042593)|heart trabecula formation (GO:0060347)|membrane raft organization (GO:0031579)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of cell size (GO:0045792)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sarcomere organization (GO:0060299)|nucleus localization (GO:0051647)|plasma membrane organization (GO:0007009)|plasma membrane repair (GO:0001778)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein localization (GO:0008104)|protein localization to plasma membrane (GO:0072659)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of calcium ion import (GO:0090279)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart contraction (GO:0008016)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of nerve growth factor receptor activity (GO:0051394)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase B signaling (GO:0051896)|regulation of signal transduction by receptor internalization (GO:0038009)|regulation of skeletal muscle contraction (GO:0014819)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|T-tubule organization (GO:0033292)|triglyceride metabolic process (GO:0006641)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|dystrophin-associated glycoprotein complex (GO:0016010)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|connexin binding (GO:0071253)|ion channel binding (GO:0044325)|potassium channel inhibitor activity (GO:0019870)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein complex scaffold (GO:0032947)|sodium channel regulator activity (GO:0017080)	p.A134T(2)		breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						CCCACTCTTCGCGGCCCTGGG	0.622																																						uc003bra.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	lung(1)|breast(1)	2						c.(400-402)GCG>ACG		caveolin 3							121.0	96.0	104.0					3																	8787497		2203	4300	6503	SO:0001583	missense	859				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity	g.chr3:8787497G>A	AF043101	CCDS2569.1	3p25	2014-09-17			ENSG00000182533	ENSG00000182533			1529	protein-coding gene	gene with protein product	"""M-caveolin"""	601253				9536092, 9537420	Standard	NM_033337		Approved	VIP-21, LGMD1C, VIP21, LQT9	uc003brb.3	P56539	OTTHUMG00000090519	ENST00000343849.2:c.400G>A	3.37:g.8787497G>A	ENSP00000341940:p.Ala134Thr					C3orf32_uc003bqz.2_5'Flank|CAV3_uc003brb.2_Missense_Mutation_p.A134T	p.A134T	NM_001234	NP_001225	P56539	CAV3_HUMAN			2	467	+			134			Cytoplasmic (Potential).		A8K777|Q3T1A4	Missense_Mutation	SNP	ENST00000343849.2	37	c.400G>A	CCDS2569.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527685	0.64860	.	.	ENSG00000182533	ENST00000343849;ENST00000397368	D;D	0.92397	-3.03;-3.03	4.79	2.96	0.34315	.	0.220982	0.45126	N	0.000384	T	0.79387	0.4437	N	0.04018	-0.295	0.35035	D	0.759127	P	0.34977	0.478	B	0.32533	0.147	T	0.80955	-0.1151	10	0.30078	T	0.28	-10.9721	10.0206	0.42041	0.1701:0.0:0.8299:0.0	.	134	P56539	CAV3_HUMAN	T	134	ENSP00000341940:A134T;ENSP00000380525:A134T	ENSP00000341940:A134T	A	+	1	0	CAV3	8762497	1.000000	0.71417	0.868000	0.34077	0.994000	0.84299	5.202000	0.65169	1.231000	0.43661	0.491000	0.48974	GCG		PASS	0.622	CAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207008.2	NM_033337		34	63	34	63	---	---	---	---
IL17RE	132014	broad.mit.edu	37	3	9945092	9945092	+	Missense_Mutation	SNP	C	C	G	rs267599950		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:9945092C>G	ENST00000383814.3	+	2	249	c.144C>G	c.(142-144)ttC>ttG	p.F48L	IL17RE_ENST00000421412.1_Missense_Mutation_p.F81L|IL17RE_ENST00000295980.3_Missense_Mutation_p.F48L|IL17RE_ENST00000454190.2_Missense_Mutation_p.F48L	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	48					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F48L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		ATGACAGTTTCACTGGTGAGT	0.507																																						uc003btu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(142-144)TTC>TTG		interleukin 17 receptor E isoform 1							109.0	92.0	97.0					3																	9945092		2203	4300	6503	SO:0001583	missense	132014					cytoplasm|extracellular region|integral to membrane	receptor activity	g.chr3:9945092C>G	AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.144C>G	3.37:g.9945092C>G	ENSP00000373325:p.Phe48Leu					CIDEC_uc003bto.2_Intron|IL17RE_uc003btv.2_Missense_Mutation_p.F48L|IL17RE_uc011atn.1_Intron|IL17RE_uc003btw.2_Missense_Mutation_p.F48L|IL17RE_uc003btx.2_Intron|IL17RE_uc010hcq.2_Missense_Mutation_p.F48L|IL17RE_uc003bty.2_Intron	p.F48L	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)	3	261	+			48			Extracellular (Potential).		B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Missense_Mutation	SNP	ENST00000383814.3	37	c.144C>G	CCDS2589.1	.	.	.	.	.	.	.	.	.	.	C	9.547	1.114807	0.20795	.	.	ENSG00000163701	ENST00000421412;ENST00000295980;ENST00000383814;ENST00000454190;ENST00000454992	T;T;T;T;T	0.11169	2.91;2.91;2.91;2.91;2.8	4.78	-2.04	0.07343	.	0.892268	0.09485	N	0.795707	T	0.04770	0.0129	N	0.25890	0.77	0.09310	N	1	B;B;B	0.12013	0.002;0.004;0.005	B;B;B	0.14578	0.006;0.011;0.003	T	0.43972	-0.9358	10	0.02654	T	1	-0.5526	2.0501	0.03569	0.1281:0.3851:0.3021:0.1847	.	48;48;48	Q8NFR9-3;Q8NFR9-5;Q8NFR9	.;.;I17RE_HUMAN	L	81;48;48;48;48	ENSP00000404916:F81L;ENSP00000295980:F48L;ENSP00000373325:F48L;ENSP00000388086:F48L;ENSP00000400768:F48L	ENSP00000295980:F48L	F	+	3	2	IL17RE	9920092	0.000000	0.05858	0.001000	0.08648	0.531000	0.34715	-1.035000	0.03564	-0.288000	0.09051	0.561000	0.74099	TTC		PASS	0.507	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1	NM_153480		46	88	46	88	---	---	---	---
CCR4	1233	broad.mit.edu	37	3	32995269	32995269	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:32995269G>A	ENST00000330953.5	+	2	523	c.355G>A	c.(355-357)Gtg>Atg	p.V119M		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	119					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.V119M(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GATGTACTTGGTGGGCTTTTA	0.483																																						uc003cfg.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(355-357)GTG>ATG		chemokine (C-C motif) receptor 4							313.0	311.0	311.0					3																	32995269		2203	4300	6503	SO:0001583	missense	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995269G>A	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.355G>A	3.37:g.32995269G>A	ENSP00000332659:p.Val119Met						p.V119M	NM_005508	NP_005499	P51679	CCR4_HUMAN			2	523	+			119			Helical; Name=3; (Potential).		Q9ULY6|Q9ULY7	Missense_Mutation	SNP	ENST00000330953.5	37	c.355G>A	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577237	0.45902	.	.	ENSG00000183813	ENST00000330953	T	0.73047	-0.71	5.95	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000059	T	0.74846	0.3770	L	0.43701	1.375	0.40200	D	0.977509	D	0.58268	0.982	P	0.62560	0.904	T	0.75548	-0.3279	10	0.46703	T	0.11	.	10.1285	0.42665	0.0707:0.0:0.7906:0.1387	.	119	P51679	CCR4_HUMAN	M	119	ENSP00000332659:V119M	ENSP00000332659:V119M	V	+	1	0	CCR4	32970273	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	2.734000	0.47368	1.454000	0.47793	0.655000	0.94253	GTG		PASS	0.483	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			25	354	25	354	---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36875113	36875113	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:36875113G>T	ENST00000429976.2	-	21	6076	c.5829C>A	c.(5827-5829)ttC>ttA	p.F1943L	TRANK1_ENST00000301807.6_Missense_Mutation_p.F1393L|TRANK1_ENST00000428977.2_Missense_Mutation_p.F1393L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1943							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.F1393L(1)|p.F1386L(1)|p.F1943L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ATGAGGCCTGGAAGTCCTTGT	0.577																																						uc003cgj.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(4177-4179)TTC>TTA		lupus brain antigen 1							36.0	38.0	37.0					3																	36875113		1964	4144	6108	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36875113G>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5829C>A	3.37:g.36875113G>T	ENSP00000416168:p.Phe1943Leu						p.F1393L	NM_014831	NP_055646	O15050	TRNK1_HUMAN			12	4481	-			1943					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.4179C>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253167	0.59212	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.32753	1.44;1.85;1.44	5.29	2.5	0.30297	.	0.000000	0.64402	D	0.000017	T	0.39517	0.1081	L	0.36672	1.1	0.37424	D	0.913767	D	0.69078	0.997	D	0.75020	0.985	T	0.33675	-0.9859	10	0.59425	D	0.04	.	7.7144	0.28696	0.4616:0.0:0.5384:0.0	.	1943	O15050	TRNK1_HUMAN	L	1393;1943;1393	ENSP00000416826:F1393L;ENSP00000416168:F1943L;ENSP00000301807:F1393L	ENSP00000301807:F1393L	F	-	3	2	TRANK1	36850117	0.973000	0.33851	1.000000	0.80357	0.980000	0.70556	-0.002000	0.12924	0.315000	0.23110	-0.258000	0.10820	TTC		PASS	0.577	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		9	40	9	40	---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38158078	38158078	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:38158078G>A	ENST00000308059.6	+	28	4012	c.3991G>A	c.(3991-3993)Gag>Aag	p.E1331K	DLEC1_ENST00000346219.3_Missense_Mutation_p.E1331K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E1334K					deleted in lung and esophageal cancer 1									p.E1331K(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TGATACCCCTGAGGGTGGCTG	0.622																																						uc003cho.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(3991-3993)GAG>AAG		deleted in lung and esophageal cancer 1 isoform							68.0	70.0	69.0					3																	38158078		1985	4159	6144	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38158078G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.3991G>A	3.37:g.38158078G>A	ENSP00000308597:p.Glu1331Lys					DLEC1_uc003chp.1_Missense_Mutation_p.E1331K|DLEC1_uc010hgv.1_Missense_Mutation_p.E1334K|DLEC1_uc003chr.1_Missense_Mutation_p.E402K|DLEC1_uc010hgx.1_RNA|DLEC1_uc003chs.1_5'Flank	p.E1331K	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	28	4012	+			1331						Missense_Mutation	SNP	ENST00000308059.6	37	c.3991G>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	6.792	0.515208	0.12944	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.06142	3.36;3.34;3.58	5.01	3.19	0.36642	.	0.947081	0.08759	N	0.898038	T	0.08447	0.0210	L	0.60455	1.87	0.09310	N	1	B;B;B;B	0.14012	0.003;0.009;0.003;0.003	B;B;B;B	0.14578	0.003;0.011;0.004;0.003	T	0.35351	-0.9792	10	0.27082	T	0.32	-4.2763	8.024	0.30425	0.1971:0.0:0.8029:0.0	.	1334;1331;1331;1331	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	K	1331;1331;1334	ENSP00000308597:E1331K;ENSP00000315914:E1331K;ENSP00000410427:E1334K	ENSP00000308597:E1331K	E	+	1	0	DLEC1	38133082	0.002000	0.14202	0.006000	0.13384	0.005000	0.04900	1.024000	0.30077	1.106000	0.41623	0.462000	0.41574	GAG		PASS	0.622	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		4	164	4	164	---	---	---	---
MYRIP	25924	broad.mit.edu	37	3	40231546	40231546	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:40231546G>A	ENST00000302541.6	+	10	1599	c.1257G>A	c.(1255-1257)agG>agA	p.R419R	MYRIP_ENST00000444716.1_Silent_p.R419R|MYRIP_ENST00000539167.1_Silent_p.R232R|MYRIP_ENST00000425621.1_Silent_p.R419R|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Silent_p.R330R	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	419	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)	p.R419R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CCCTGCCCAGGAACCCCCAGC	0.632																																						uc003cka.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1255-1257)AGG>AGA		myosin VIIA and Rab interacting protein							76.0	77.0	77.0					3																	40231546		2203	4300	6503	SO:0001819	synonymous_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40231546G>A	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1257G>A	3.37:g.40231546G>A						MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.R419R|MYRIP_uc010hhw.2_Silent_p.R330R|MYRIP_uc011ayz.1_Silent_p.R232R|uc003ckb.2_Intron	p.R419R	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	10	1392	+			419			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	c.1257G>A	CCDS2689.1																																																																																				PASS	0.632	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		50	95	50	95	---	---	---	---
ZNF621	285268	broad.mit.edu	37	3	40571743	40571743	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:40571743G>A	ENST00000339296.5	+	4	647	c.195G>A	c.(193-195)gaG>gaA	p.E65E	ZNF621_ENST00000490457.1_3'UTR|ZNF621_ENST00000310898.1_Silent_p.E65E|ZNF621_ENST00000431278.1_5'UTR|ZNF621_ENST00000403205.2_Silent_p.E65E	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	65	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.E65E(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CCCACCTGGAGAGAGGGGAAG	0.507																																						uc003ckm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(193-195)GAG>GAA		zinc finger protein 621							122.0	115.0	117.0					3																	40571743		2203	4300	6503	SO:0001819	synonymous_variant	285268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40571743G>A	AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.195G>A	3.37:g.40571743G>A						ZNF621_uc003ckn.2_Silent_p.E65E|ZNF621_uc003cko.2_Silent_p.E30E|ZNF621_uc011aze.1_Silent_p.E57E	p.E65E	NM_001098414	NP_001091884	Q6ZSS3	ZN621_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	4	411	+			65			KRAB.		Q14DC7|Q8TE91	Silent	SNP	ENST00000339296.5	37	c.195G>A	CCDS2693.1																																																																																				PASS	0.507	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		18	145	18	145	---	---	---	---
ZNF502	91392	broad.mit.edu	37	3	44763395	44763395	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:44763395G>C	ENST00000296091.4	+	4	1342	c.1086G>C	c.(1084-1086)caG>caC	p.Q362H	ZNF502_ENST00000436624.2_Missense_Mutation_p.Q362H|ZNF502_ENST00000449836.1_Missense_Mutation_p.Q362H	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	362					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.Q362H(1)		NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CCTTTTGTCAGAGCCCATCTC	0.403																																						uc011baa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1084-1086)CAG>CAC		zinc finger protein 502							58.0	62.0	60.0					3																	44763395		2203	4300	6503	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763395G>C	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.1086G>C	3.37:g.44763395G>C	ENSP00000296091:p.Gln362His					ZNF502_uc003cns.2_Missense_Mutation_p.Q362H|ZNF502_uc011bab.1_Missense_Mutation_p.Q362H|ZNF502_uc003cnt.2_Missense_Mutation_p.Q362H	p.Q362H	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	1341	+			362			C2H2-type 8.			Missense_Mutation	SNP	ENST00000296091.4	37	c.1086G>C	CCDS2719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.51|10.51	1.371580|1.371580	0.24771|0.24771	.|.	.|.	ENSG00000196653|ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624|ENST00000427783	T;T;T|.	0.36157|.	1.27;1.27;1.27|.	4.27|4.27	2.4|2.4	0.29515|0.29515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.20618|0.20618	0.0496|0.0496	N|N	0.12611|0.12611	0.24|0.24	0.09310|0.09310	N|N	1|1	D|.	0.76494|.	0.999|.	P|.	0.55011|.	0.766|.	T|T	0.18493|0.18493	-1.0335|-1.0335	9|6	0.14656|0.41790	T|T	0.56|0.15	-1.7372|-1.7372	5.6247|5.6247	0.17477|0.17477	0.1775:0.0:0.6628:0.1598|0.1775:0.0:0.6628:0.1598	.|.	362|.	Q8TBZ5|.	ZN502_HUMAN|.	H|T	362|362	ENSP00000397390:Q362H;ENSP00000296091:Q362H;ENSP00000406469:Q362H|.	ENSP00000296091:Q362H|ENSP00000397812:R362T	Q|R	+|+	3|2	2|0	ZNF502|ZNF502	44738399|44738399	0.000000|0.000000	0.05858|0.05858	0.978000|0.978000	0.43139|0.43139	0.998000|0.998000	0.95712|0.95712	-1.745000|-1.745000	0.01831|0.01831	0.518000|0.518000	0.28383|0.28383	0.655000|0.655000	0.94253|0.94253	CAG|AGA		PASS	0.403	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		47	69	47	69	---	---	---	---
SCAP	22937	broad.mit.edu	37	3	47462159	47462159	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:47462159G>A	ENST00000265565.5	-	12	1860	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F	SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000441517.2_Missense_Mutation_p.S228F|SCAP_ENST00000545718.1_Missense_Mutation_p.S91F	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	483					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)	p.S483F(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GTGGGGTGTGGACGGCCTCAC	0.662											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(149;978 1908 29304 37806 46700)	uc003crh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1447-1449)TCC>TTC		SREBF chaperone protein							62.0	61.0	61.0					3																	47462159		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47462159G>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1448C>T	3.37:g.47462159G>A	ENSP00000265565:p.Ser483Phe		OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	947	SCAP_uc011baz.1_Missense_Mutation_p.S228F|SCAP_uc003crg.2_Missense_Mutation_p.S91F	p.S483F	NM_012235	NP_036367	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	12	1703	-			483			Cytoplasmic (By similarity).		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.1448C>T	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	15.68	2.906248	0.52333	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718;ENST00000383739	T;T;T	0.80653	-1.4;-1.35;0.78	5.03	5.03	0.67393	.	0.206612	0.32578	N	0.005902	T	0.77751	0.4177	L	0.44542	1.39	0.47308	D	0.999384	P;B	0.37708	0.606;0.048	B;B	0.39660	0.306;0.05	T	0.77770	-0.2463	10	0.41790	T	0.15	-21.3394	18.138	0.89627	0.0:0.0:1.0:0.0	.	228;483	F8W921;Q12770	.;SCAP_HUMAN	F	110;483;228;91;176	ENSP00000265565:S483F;ENSP00000416847:S228F;ENSP00000438956:S91F	ENSP00000265565:S483F	S	-	2	0	SCAP	47437163	1.000000	0.71417	0.878000	0.34440	0.376000	0.30014	5.730000	0.68546	2.629000	0.89072	0.462000	0.41574	TCC		PASS	0.662	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		3	33	3	33	---	---	---	---
CCDC51	79714	broad.mit.edu	37	3	48474121	48474121	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:48474121C>G	ENST00000395694.2	-	4	1018	c.933G>C	c.(931-933)agG>agC	p.R311S	CCDC51_ENST00000395696.1_Missense_Mutation_p.R311S|CCDC51_ENST00000447018.1_Missense_Mutation_p.R202S|CCDC51_ENST00000412398.2_Missense_Mutation_p.R202S|PLXNB1_ENST00000448774.2_5'Flank|CCDC51_ENST00000442740.1_Missense_Mutation_p.R202S|PLXNB1_ENST00000296440.6_5'Flank	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	311						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.R311S(1)		endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AATGGACTTGCCTGGAATGAC	0.517																																						uc003csz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(931-933)AGG>AGC		coiled-coil domain containing 51							66.0	70.0	69.0					3																	48474121		1978	4161	6139	SO:0001583	missense	79714					integral to membrane		g.chr3:48474121C>G	AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.933G>C	3.37:g.48474121C>G	ENSP00000379047:p.Arg311Ser					PLXNB1_uc003csx.2_5'Flank|CCDC51_uc003cta.2_Missense_Mutation_p.R202S|CCDC51_uc003ctb.2_Missense_Mutation_p.R202S|CCDC51_uc003ctc.2_Missense_Mutation_p.R311S|CCDC51_uc003ctd.2_Missense_Mutation_p.R202S	p.R311S	NM_024661	NP_078937	Q96ER9	CCD51_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	1054	-			311					Q9HA01	Missense_Mutation	SNP	ENST00000395694.2	37	c.933G>C	CCDS2766.2	.	.	.	.	.	.	.	.	.	.	C	9.685	1.150347	0.21371	.	.	ENSG00000164051	ENST00000447018;ENST00000395694;ENST00000412398;ENST00000395696;ENST00000442740	T;T;T;T;T	0.44482	0.93;0.92;0.93;0.92;0.93	5.79	2.05	0.26809	.	0.442647	0.27971	N	0.017101	T	0.31949	0.0813	L	0.51422	1.61	0.32772	N	0.503614	P	0.34724	0.465	B	0.28011	0.085	T	0.38200	-0.9672	10	0.56958	D	0.05	-7.3698	8.9738	0.35924	0.0:0.6093:0.0:0.3907	.	311	Q96ER9	CCD51_HUMAN	S	202;311;202;311;202	ENSP00000412300:R202S;ENSP00000379047:R311S;ENSP00000401194:R202S;ENSP00000379049:R311S;ENSP00000392898:R202S	ENSP00000379047:R311S	R	-	3	2	CCDC51	48449125	0.999000	0.42202	0.984000	0.44739	0.873000	0.50193	0.842000	0.27627	0.092000	0.17331	0.655000	0.94253	AGG		PASS	0.517	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344599.2	NM_024661		41	73	41	73	---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52360904	52360904	+	Silent	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:52360904G>T	ENST00000420323.2	+	5	996	c.735G>T	c.(733-735)ctG>ctT	p.L245L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	245	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L245L(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCTCCCACTGAAGGTGAGCC	0.597																																						uc011bef.1																			2	Substitution - coding silent(2)		lung(2)	large_intestine(3)	3						c.(733-735)CTG>CTT		dynein, axonemal, heavy chain 1							76.0	91.0	86.0					3																	52360904		2086	4218	6304	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52360904G>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.735G>T	3.37:g.52360904G>T						DNAH1_uc003ddt.1_Silent_p.L245L	p.L245L	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	5	996	+			245			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.735G>T	CCDS46842.1																																																																																				PASS	0.597	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		5	25	5	25	---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52420190	52420190	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:52420190C>T	ENST00000420323.2	+	55	8901	c.8640C>T	c.(8638-8640)atC>atT	p.I2880I		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2880	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I2880I(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATACGGCCATCGCCGAGGAGA	0.557																																						uc011bef.1																			2	Substitution - coding silent(2)		lung(2)	large_intestine(3)	3						c.(8638-8640)ATC>ATT		dynein, axonemal, heavy chain 1							54.0	58.0	57.0					3																	52420190		2069	4210	6279	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52420190C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8640C>T	3.37:g.52420190C>T						DNAH1_uc003ddv.2_5'UTR	p.I2880I	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	55	8901	+			2880			Potential.|Stalk (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.8640C>T	CCDS46842.1																																																																																				PASS	0.557	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		5	31	5	31	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52643429	52643429	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:52643429C>G	ENST00000296302.7	-	16	2468	c.2467G>C	c.(2467-2469)Gac>Cac	p.D823H	PBRM1_ENST00000410007.1_Missense_Mutation_p.D823H|PBRM1_ENST00000356770.4_Missense_Mutation_p.D791H|PBRM1_ENST00000409114.3_Missense_Mutation_p.D838H|PBRM1_ENST00000337303.4_Missense_Mutation_p.D823H|PBRM1_ENST00000409057.1_Missense_Mutation_p.D823H|PBRM1_ENST00000394830.3_Missense_Mutation_p.D823H|PBRM1_ENST00000409767.1_Missense_Mutation_p.D838H			Q86U86	PB1_HUMAN	polybromo 1	823	Bromo 6. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D823H(2)|p.D791H(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTAATTATGTCAAATGTAAGG	0.403			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2				Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		3	Substitution - Missense(3)		lung(3)	kidney(136)|breast(4)	140						c.(2467-2469)GAC>CAC		polybromo 1 isoform 4							122.0	120.0	121.0					3																	52643429		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52643429C>G	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2467G>C	3.37:g.52643429C>G	ENSP00000296302:p.Asp823His					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.D823H|PBRM1_uc003der.2_Missense_Mutation_p.D791H|PBRM1_uc003det.2_Missense_Mutation_p.D838H|PBRM1_uc003deu.2_Missense_Mutation_p.D838H|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.D823H|PBRM1_uc010hmk.1_Missense_Mutation_p.D823H|PBRM1_uc003dey.2_Missense_Mutation_p.D823H|PBRM1_uc003dez.1_Missense_Mutation_p.D823H|PBRM1_uc003dfb.1_Missense_Mutation_p.D736H|PBRM1_uc003dfa.1_Missense_Mutation_p.D169H|PBRM1_uc003dfc.2_Missense_Mutation_p.D190H	p.D823H	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	16	2479	-			823			Bromo 6.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.2467G>C		.	.	.	.	.	.	.	.	.	.	C	23.2	4.383743	0.82792	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	6.17	6.17	0.99709	Bromodomain (5);	0.091285	0.85682	D	0.000000	T	0.54415	0.1857	L	0.57536	1.79	0.80722	D	1	D;D;D;P;P;D;P;D;D;D;P	0.71674	0.998;0.966;0.998;0.945;0.809;0.998;0.916;0.995;0.992;0.959;0.916	P;P;D;P;P;P;P;P;P;P;P	0.65443	0.851;0.707;0.935;0.791;0.516;0.804;0.612;0.862;0.827;0.686;0.612	T	0.49194	-0.8965	10	0.72032	D	0.01	-39.5448	20.8794	0.99867	0.0:1.0:0.0:0.0	.	823;198;823;823;823;823;838;838;823;791;823	Q86U86-9;Q6IRX1;Q86U86-6;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;.;.;PB1_HUMAN;.;.	H	791;823;823;823;823;823;838;838;823;782	ENSP00000349213:D791H;ENSP00000378307:D823H;ENSP00000296302:D823H;ENSP00000338302:D823H;ENSP00000386593:D823H;ENSP00000386529:D823H;ENSP00000386643:D838H;ENSP00000386601:D838H;ENSP00000387775:D823H;ENSP00000397662:D782H	ENSP00000296302:D823H	D	-	1	0	PBRM1	52618469	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.780000	0.85658	2.941000	0.99782	0.655000	0.94253	GAC		PASS	0.403	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		57	114	57	114	---	---	---	---
APPL1	26060	broad.mit.edu	37	3	57291330	57291330	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:57291330C>G	ENST00000288266.3	+	15	1451	c.1304C>G	c.(1303-1305)tCt>tGt	p.S435C		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	435					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)	p.S435C(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GGATCTGAGTCTACAAATTTG	0.458																																						uc003dio.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1303-1305)TCT>TGT		adaptor protein, phosphotyrosine interaction, PH							124.0	124.0	124.0					3																	57291330		2203	4300	6503	SO:0001583	missense	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57291330C>G	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1304C>G	3.37:g.57291330C>G	ENSP00000288266:p.Ser435Cys					APPL1_uc010hnb.2_Missense_Mutation_p.S435C|APPL1_uc011bey.1_Missense_Mutation_p.S418C	p.S435C	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	15	1451	+			435					Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	c.1304C>G	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738839	0.89573	.	.	ENSG00000157500	ENST00000288266	T	0.11495	2.77	5.82	5.82	0.92795	.	0.111192	0.64402	D	0.000005	T	0.31827	0.0809	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61800	0.846;0.894	T	0.00492	-1.1707	10	0.66056	D	0.02	.	20.1086	0.97902	0.0:1.0:0.0:0.0	.	418;435	B4DQX8;Q9UKG1	.;DP13A_HUMAN	C	435	ENSP00000288266:S435C	ENSP00000288266:S435C	S	+	2	0	APPL1	57266370	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	4.515000	0.60489	2.756000	0.94617	0.563000	0.77884	TCT		PASS	0.458	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		54	115	54	115	---	---	---	---
FLNB	2317	broad.mit.edu	37	3	58134386	58134386	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:58134386C>T	ENST00000295956.4	+	36	6063	c.5898C>T	c.(5896-5898)ttC>ttT	p.F1966F	FLNB_ENST00000419752.2_Silent_p.F1786F|FLNB_ENST00000429972.2_Silent_p.F1955F|FLNB_ENST00000357272.4_Silent_p.F1966F|FLNB_ENST00000358537.3_Silent_p.F1942F|FLNB_ENST00000348383.5_Silent_p.F1966F|FLNB_ENST00000490882.1_Silent_p.F1997F|FLNB_ENST00000493452.1_Silent_p.F1773F	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1966	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.F1966F(1)|p.F1997F(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCATCTCCTTCATCCCCCGGG	0.527																																						uc003djj.2																			2	Substitution - coding silent(2)		lung(2)	breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(5896-5898)TTC>TTT		filamin B isoform 2							52.0	51.0	51.0					3																	58134386		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58134386C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.5898C>T	3.37:g.58134386C>T						FLNB_uc010hne.2_Silent_p.F1997F|FLNB_uc003djk.2_Silent_p.F1955F|FLNB_uc010hnf.2_Silent_p.F1942F|FLNB_uc003djl.2_Silent_p.F1786F|FLNB_uc003djm.2_Silent_p.F1773F|FLNB_uc010hng.1_5'Flank	p.F1966F	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	36	6063	+			1966			Filamin 18.|Interaction with the cytoplasmic tail of GP1BA.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.5898C>T	CCDS2885.1																																																																																				PASS	0.527	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		25	44	25	44	---	---	---	---
ATXN7	6314	broad.mit.edu	37	3	63965681	63965681	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:63965681G>C	ENST00000295900.6	+	6	1140	c.590G>C	c.(589-591)gGa>gCa	p.G197A	ATXN7_ENST00000538065.1_Missense_Mutation_p.G197A|ATXN7_ENST00000398590.3_Missense_Mutation_p.G197A|ATXN7_ENST00000484332.1_Missense_Mutation_p.G52A|ATXN7_ENST00000487717.1_Missense_Mutation_p.G197A|ATXN7_ENST00000488239.1_3'UTR	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	197	Ser-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.G197A(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		AAAAGCAAAGGAGGCAGTGCA	0.478																																						uc003dlw.3																			2	Substitution - Missense(2)		lung(2)		0						c.(589-591)GGA>GCA		ataxin 7 isoform a							89.0	88.0	89.0					3																	63965681		1982	4193	6175	SO:0001583	missense	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63965681G>C	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.590G>C	3.37:g.63965681G>C	ENSP00000295900:p.Gly197Ala					ATXN7_uc003dlv.2_Missense_Mutation_p.G197A|ATXN7_uc010hnv.2_Missense_Mutation_p.G197A|ATXN7_uc010hnw.2_Missense_Mutation_p.G52A|ATXN7_uc011bfn.1_Missense_Mutation_p.G52A	p.G197A	NM_000333	NP_000324	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	6	1143	+		Prostate(884;0.0181)	197			Ser-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	c.590G>C	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240085	0.39598	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	5.76	3.94	0.45596	.	0.584880	0.18822	N	0.130235	T	0.25232	0.0613	L	0.48642	1.525	0.51767	D	0.999932	B;B;B;B	0.21606	0.004;0.058;0.011;0.007	B;B;B;B	0.14578	0.002;0.011;0.009;0.004	T	0.11641	-1.0579	10	0.02654	T	1	-3.223	16.0468	0.80725	0.0:0.3795:0.6205:0.0	.	52;52;197;197	E9PHP9;B4E207;O15265-2;O15265	.;.;.;ATX7_HUMAN	A	197;197;197;197;52	ENSP00000381590:G197A;ENSP00000295900:G197A;ENSP00000420234:G197A;ENSP00000439585:G197A;ENSP00000428277:G52A	ENSP00000295900:G197A	G	+	2	0	ATXN7	63940721	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	4.696000	0.61774	0.749000	0.32854	0.655000	0.94253	GGA		PASS	0.478	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		11	128	11	128	---	---	---	---
PSMD6	9861	broad.mit.edu	37	3	64004611	64004611	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:64004611G>C	ENST00000295901.4	-	4	740	c.600C>G	c.(598-600)ctC>ctG	p.L200L	PSMD6_ENST00000394431.2_Silent_p.L162L|PSMD6_ENST00000482510.1_Silent_p.L161L|RP11-245J9.6_ENST00000605919.1_RNA|RP11-245J9.4_ENST00000462717.1_RNA|PSMD6_ENST00000492933.1_Silent_p.L253L	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	200	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)	p.L200L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		TGTCAAGGAAGAGTTCAGCTG	0.388																																						uc003dma.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(598-600)CTC>CTG		proteasome (prosome, macropain) 26S subunit,							148.0	151.0	150.0					3																	64004611		2203	4300	6503	SO:0001819	synonymous_variant	9861				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding	g.chr3:64004611G>C	AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"""Proteasome (prosome, macropain) subunits"""	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.600C>G	3.37:g.64004611G>C						PSMD6_uc003dlz.1_Silent_p.L151L|PSMD6_uc003dmb.1_Silent_p.L253L|PSMD6_uc003dmc.1_Silent_p.L161L|PSMD6_uc003dmd.1_Silent_p.L162L	p.L200L	NM_014814	NP_055629	Q15008	PSMD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)	4	625	-		Lung NSC(201;0.136)	200			PCI.		A8K2E0|E9PHI9|Q6UV22	Silent	SNP	ENST00000295901.4	37	c.600C>G	CCDS2901.1	.	.	.	.	.	.	.	.	.	.	G	8.862	0.947227	0.18356	.	.	ENSG00000163636	ENST00000480205	.	.	.	6.04	2.06	0.26882	.	0.000000	0.85682	D	0.000000	T	0.62575	0.2439	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61811	-0.6986	6	0.72032	D	0.01	-11.0018	7.5919	0.28025	0.0613:0.2249:0.5971:0.1167	.	.	.	.	V	48	.	ENSP00000418843:L48V	L	-	1	0	PSMD6	63979651	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.768000	0.47645	0.417000	0.25871	0.561000	0.74099	CTT		PASS	0.388	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352082.1	NM_014814		50	289	50	289	---	---	---	---
EBLN2	55096	broad.mit.edu	37	3	73111632	73111632	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:73111632G>C	ENST00000533473.1	+	1	823	c.400G>C	c.(400-402)Gat>Cat	p.D134H	PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	134								p.D134H(1)		endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						TTTCATATTTGATGGGTTACA	0.433																																						uc003dpj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(400-402)GAT>CAT		hypothetical protein LOC55096							72.0	65.0	67.0					3																	73111632		1902	4122	6024	SO:0001583	missense	55096						protein binding	g.chr3:73111632G>C		CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"""endogenous Borna-like N element 2"""	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.400G>C	3.37:g.73111632G>C	ENSP00000432104:p.Asp134His					PPP4R2_uc003dph.1_Intron|PPP4R2_uc003dpi.1_Intron	p.D134H	NM_018029	NP_060499	Q6P2I7	EBLN2_HUMAN		Epithelial(33;3.9e-05)|BRCA - Breast invasive adenocarcinoma(55;7.72e-05)|LUSC - Lung squamous cell carcinoma(21;0.00156)|Lung(16;0.00487)|KIRC - Kidney renal clear cell carcinoma(39;0.012)|Kidney(39;0.0139)	1	823	+		Prostate(10;0.0187)|Lung SC(41;0.236)	134					Q8WWH3|Q9NW89	Missense_Mutation	SNP	ENST00000533473.1	37	c.400G>C	CCDS54608.1	.	.	.	.	.	.	.	.	.	.	G	8.793	0.930937	0.18131	.	.	ENSG00000255423	ENST00000533473	.	.	.	0.458	0.458	0.16670	P40 nucleoprotein, subdomain 1, Borna disease virus (1);	.	.	.	.	T	0.38665	0.1049	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.23762	-1.0179	7	0.38643	T	0.18	.	.	.	.	.	134	Q6P2I7	EBLN2_HUMAN	H	134	.	ENSP00000432104:D134H	D	+	1	0	EBLN2	73194322	0.103000	0.21917	0.011000	0.14972	0.011000	0.07611	0.364000	0.20325	0.482000	0.27582	0.484000	0.47621	GAT		PASS	0.433	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386932.1	NM_018029		4	42	4	42	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	96706180	96706180	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:96706180G>A	ENST00000389672.5	+	3	495	c.457G>A	c.(457-459)Gcc>Acc	p.A153T	EPHA6_ENST00000470610.2_Missense_Mutation_p.A153T|EPHA6_ENST00000542517.1_Missense_Mutation_p.A59T	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	59	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.A59T(2)|p.A153T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GCAGTGGGATGCCATCACTGA	0.328																																						uc010how.1																			3	Substitution - Missense(3)		lung(3)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(457-459)GCC>ACC		EPH receptor A6 isoform a							90.0	87.0	88.0					3																	96706180		1856	4101	5957	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706180G>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.457G>A	3.37:g.96706180G>A	ENSP00000374323:p.Ala153Thr					EPHA6_uc003drp.1_Missense_Mutation_p.A153T	p.A153T	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			3	500	+			58			Ephrin-binding.|Extracellular (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.457G>A	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762432|4.762432	0.89932|0.89932	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.09445|.	2.98;2.98;2.98|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.517262|.	0.16152|.	U|.	0.227234|.	T|T	0.72431|0.72431	0.3459|0.3459	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.67810|0.67810	-0.5574|-0.5574	10|5	0.72032|.	D|.	0.01|.	.|.	19.9351|19.9351	0.97137|0.97137	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	153;153|.	B3KS12;E7EU71|.	.;.|.	T|Y	153;153;59|97	ENSP00000420598:A153T;ENSP00000374323:A153T;ENSP00000439758:A59T|.	ENSP00000374323:A153T|.	A|C	+|+	1|2	0|0	EPHA6|EPHA6	98188870|98188870	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	9.869000|9.869000	0.99810|0.99810	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	GCC|TGC		PASS	0.328	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		25	183	25	183	---	---	---	---
ARL6	84100	broad.mit.edu	37	3	97510649	97510649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:97510649G>T	ENST00000463745.1	+	7	991	c.514G>T	c.(514-516)Gaa>Taa	p.E172*	ARL6_ENST00000394206.1_Nonsense_Mutation_p.E172*|ARL6_ENST00000335979.2_Nonsense_Mutation_p.E172*	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	172					cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|melanosome transport (GO:0032402)|protein polymerization (GO:0051258)|protein targeting to membrane (GO:0006612)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	axonemal microtubule (GO:0005879)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane coat (GO:0030117)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)	p.E172*(1)		large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		AGGCTTGCAAGAAGGTGTAGA	0.313																																						uc003drv.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(514-516)GAA>TAA		ADP-ribosylation factor-like 6							195.0	190.0	192.0					3																	97510649		2203	4300	6503	SO:0001587	stop_gained	84100	Bardet-Biedl_syndrome			cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding	g.chr3:97510649G>T	BC024239	CCDS2928.1	3q11.2	2014-05-09			ENSG00000113966	ENSG00000113966		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	13210	protein-coding gene	gene with protein product		608845		BBS3		15258860, 15314642, 21282186	Standard	NM_032146		Approved	RP55	uc003drv.3	Q9H0F7	OTTHUMG00000159189	ENST00000463745.1:c.514G>T	3.37:g.97510649G>T	ENSP00000419619:p.Glu172*					ARL6_uc003drw.2_RNA|ARL6_uc003dru.2_Nonsense_Mutation_p.E172*|ARL6_uc010hoy.2_Nonsense_Mutation_p.E172*	p.E172*	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	8	827	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	172					A8KA93|D3DN31	Nonsense_Mutation	SNP	ENST00000463745.1	37	c.514G>T	CCDS2928.1	.	.	.	.	.	.	.	.	.	.	G	41	8.544953	0.98857	.	.	ENSG00000113966	ENST00000463745;ENST00000335979;ENST00000394206	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.9993	0.86377	0.0:0.0:1.0:0.0	.	.	.	.	X	172	.	ENSP00000337722:E172X	E	+	1	0	ARL6	98993339	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.388000	0.97237	2.611000	0.88343	0.591000	0.81541	GAA		PASS	0.313	ARL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353756.1	NM_032146		25	127	25	127	---	---	---	---
GABRR3	200959	broad.mit.edu	37	3	97731304	97731304	+	RNA	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:97731304C>T	ENST00000472788.1	-	0	415					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GCACCCAGATCTTTCTGGTCA	0.418																																						uc011bgr.1																			0					0						c.(412-414)AAG>AAA		gamma-aminobutyric acid (GABA) receptor, rho 3							139.0	135.0	136.0					3																	97731304		1862	4112	5974			200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97731304C>T	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97731304C>T							p.K138K	NM_001105580	NP_001099050	A8MPY1	GBRR3_HUMAN			4	414	-			138			Extracellular (Potential).		Q9UIV9	Silent	SNP	ENST00000472788.1	37	c.414G>A																																																																																					PASS	0.418	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			30	149	30	149	---	---	---	---
OR5H15	403274	broad.mit.edu	37	3	97888090	97888090	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:97888090C>A	ENST00000356526.2	+	1	547	c.547C>A	c.(547-549)Cca>Aca	p.P183T		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P183T(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TGACACTATCCCATTGTCTAA	0.313																																						uc011bgu.1																			1	Substitution - Missense(1)	p.P183L(1)	lung(1)	ovary(1)|skin(1)	2						c.(547-549)CCA>ACA		olfactory receptor, family 5, subfamily H,							32.0	35.0	34.0					3																	97888090		2199	4270	6469	SO:0001583	missense	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97888090C>A		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.547C>A	3.37:g.97888090C>A	ENSP00000373195:p.Pro183Thr						p.P183T	NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN			1	547	+			183			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000356526.2	37	c.547C>A	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	11.06	1.526970	0.27299	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.00216	8.53	2.48	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000262	T	0.00666	0.0022	M	0.93016	3.37	0.09310	N	1	D	0.71674	0.998	D	0.74023	0.982	T	0.16305	-1.0407	10	0.87932	D	0	.	10.7066	0.45958	0.0:1.0:0.0:0.0	.	183	A6NDH6	O5H15_HUMAN	T	183	ENSP00000373195:P183T	ENSP00000373195:P183T	P	+	1	0	OR5H15	99370780	0.000000	0.05858	0.024000	0.17045	0.055000	0.15305	-0.306000	0.08178	1.386000	0.46466	0.184000	0.17185	CCA		PASS	0.313	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			12	76	12	76	---	---	---	---
OR5K4	403278	broad.mit.edu	37	3	98072901	98072901	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:98072901G>C	ENST00000354924.2	+	1	204	c.204G>C	c.(202-204)ctG>ctC	p.L68L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L68L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						ACCTGGCTCTGATGGATTCCT	0.433																																						uc011bgv.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(202-204)CTG>CTC		olfactory receptor, family 5, subfamily K,							295.0	293.0	294.0					3																	98072901		2203	4300	6503	SO:0001819	synonymous_variant	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98072901G>C		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.204G>C	3.37:g.98072901G>C							p.L68L	NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN			1	204	+			68			Helical; Name=2; (Potential).			Silent	SNP	ENST00000354924.2	37	c.204G>C	CCDS33802.1																																																																																				PASS	0.433	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			256	539	256	539	---	---	---	---
OR5K2	402135	broad.mit.edu	37	3	98216823	98216823	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:98216823A>G	ENST00000427338.1	+	1	376	c.299A>G	c.(298-300)cAg>cGg	p.Q100R	CLDND1_ENST00000502288.1_3'UTR	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q100R(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGTGCAGTACAGTTTTATTTT	0.468																																						uc011bgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(298-300)CAG>CGG		olfactory receptor, family 5, subfamily K,							119.0	124.0	122.0					3																	98216823		2203	4300	6503	SO:0001583	missense	402135				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98216823A>G	AC021660	CCDS33804.1	3q11.2	2013-09-23			ENSG00000231861	ENSG00000231861		"""GPCR / Class A : Olfactory receptors"""	14774	protein-coding gene	gene with protein product							Standard	NM_001004737		Approved		uc011bgx.2	Q8NHB8	OTTHUMG00000160049	ENST00000427338.1:c.299A>G	3.37:g.98216823A>G	ENSP00000393889:p.Gln100Arg						p.Q100R	NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN			1	299	+			100			Helical; Name=3; (Potential).		B2RN70|Q6IF47	Missense_Mutation	SNP	ENST00000427338.1	37	c.299A>G	CCDS33804.1	.	.	.	.	.	.	.	.	.	.	A	11.13	1.549369	0.27652	.	.	ENSG00000231861	ENST00000427338	T	0.00466	7.23	2.87	2.87	0.33458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40818	N	0.001017	T	0.02649	0.0080	H	0.99182	4.46	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.01013	-1.1481	10	0.87932	D	0	-8.8401	9.563	0.39380	1.0:0.0:0.0:0.0	.	100	Q8NHB8	OR5K2_HUMAN	R	100	ENSP00000393889:Q100R	ENSP00000393889:Q100R	Q	+	2	0	OR5K2	99699513	0.999000	0.42202	0.532000	0.27989	0.156000	0.22039	6.460000	0.73518	1.563000	0.49615	0.248000	0.18094	CAG		PASS	0.468	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2			51	353	51	353	---	---	---	---
DCBLD2	131566	broad.mit.edu	37	3	98538068	98538068	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:98538068C>G	ENST00000326840.6	-	8	1427	c.1065G>C	c.(1063-1065)ttG>ttC	p.L355F	DCBLD2_ENST00000326857.9_Missense_Mutation_p.L355F	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	355	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.L355F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TTTCCTTATTCAAATCTATTT	0.338																																						uc003dtd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1063-1065)TTG>TTC		discoidin, CUB and LCCL domain containing 2							35.0	29.0	31.0					3																	98538068		1795	4059	5854	SO:0001583	missense	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98538068C>G		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1065G>C	3.37:g.98538068C>G	ENSP00000321573:p.Leu355Phe					DCBLD2_uc003dte.2_Missense_Mutation_p.L355F	p.L355F	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN			8	1428	-			355			Extracellular (Potential).|F5/8 type C.		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	c.1065G>C	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110397	0.56398	.	.	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857	D;D	0.99292	-5.7;-5.7	5.25	1.18	0.20946	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.071358	0.56097	D	0.000030	D	0.98504	0.9501	M	0.63169	1.94	0.54753	D	0.999986	D;D	0.63880	0.975;0.993	P;P	0.58721	0.728;0.844	D	0.96462	0.9342	10	0.72032	D	0.01	-13.1508	3.2851	0.06929	0.2912:0.3606:0.2675:0.0807	.	355;355	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	F	355;306;355	ENSP00000321573:L355F;ENSP00000321646:L355F	ENSP00000321573:L355F	L	-	3	2	DCBLD2	100020758	0.996000	0.38824	0.997000	0.53966	0.923000	0.55619	0.402000	0.20965	-0.004000	0.14419	0.585000	0.79938	TTG		PASS	0.338	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		8	21	8	21	---	---	---	---
GPR128	84873	broad.mit.edu	37	3	100413697	100413697	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:100413697C>T	ENST00000273352.3	+	16	2514	c.2246C>T	c.(2245-2247)tCa>tTa	p.S749L	GPR128_ENST00000475887.1_Missense_Mutation_p.S454L|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	749					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.S749L(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						TCATTGCCTTCAGTGACGCGG	0.443																																					Pancreas(87;185 1975 7223 18722)	uc003duc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2245-2247)TCA>TTA		G protein-coupled receptor 128 precursor							129.0	127.0	128.0					3																	100413697		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100413697C>T	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.2246C>T	3.37:g.100413697C>T	ENSP00000273352:p.Ser749Leu					GPR128_uc011bhc.1_Missense_Mutation_p.S450L|GPR128_uc003dud.2_Missense_Mutation_p.S272L	p.S749L	NM_032787	NP_116176	Q96K78	GP128_HUMAN			16	2514	+			749			Cytoplasmic (Potential).		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.2246C>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108569	0.37242	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.39997	1.05;1.43	5.73	0.238	0.15480	.	1.007950	0.07973	N	0.984271	T	0.38161	0.1030	L	0.57536	1.79	0.09310	N	1	B;B	0.18863	0.031;0.005	B;B	0.16722	0.016;0.003	T	0.42783	-0.9431	10	0.72032	D	0.01	.	6.7989	0.23740	0.0:0.4199:0.4173:0.1628	.	454;749	E9PHI0;Q96K78	.;GP128_HUMAN	L	749;454	ENSP00000273352:S749L;ENSP00000419788:S454L	ENSP00000273352:S749L	S	+	2	0	GPR128	101896387	0.000000	0.05858	0.002000	0.10522	0.033000	0.12548	0.328000	0.19681	0.301000	0.22738	0.650000	0.86243	TCA		PASS	0.443	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			42	98	42	98	---	---	---	---
ZPLD1	131368	broad.mit.edu	37	3	102175084	102175084	+	Silent	SNP	G	G	T	rs201328294		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:102175084G>T	ENST00000491959.1	+	11	1257	c.375G>T	c.(373-375)gtG>gtT	p.V125V	ZPLD1_ENST00000466937.1_Silent_p.V125V|ZPLD1_ENST00000306176.1_Silent_p.V141V			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	125	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)		p.V141V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CAACTTCAGTGCAAGTAGGAA	0.358																																						uc003dvs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(373-375)GTG>GTT		zona pellucida-like domain containing 1							153.0	150.0	151.0					3																	102175084		2203	4300	6503	SO:0001819	synonymous_variant	131368					integral to membrane		g.chr3:102175084G>T	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.375G>T	3.37:g.102175084G>T						ZPLD1_uc003dvt.1_Silent_p.V141V|ZPLD1_uc011bhg.1_Silent_p.V125V	p.V125V	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN			11	1257	+			125			ZP.|Extracellular (Potential).		Q49AS1|Q8WU36	Silent	SNP	ENST00000491959.1	37	c.375G>T																																																																																					PASS	0.358	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		53	240	53	240	---	---	---	---
ALCAM	214	broad.mit.edu	37	3	105238952	105238952	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:105238952A>G	ENST00000306107.5	+	2	615	c.115A>G	c.(115-117)Att>Gtt	p.I39V	ALCAM_ENST00000486979.2_5'UTR|ALCAM_ENST00000472644.2_Missense_Mutation_p.I39V|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	39	Ig-like V-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)	p.I39V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGGAGATACCATTATCATACC	0.383																																						uc003dvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(115-117)ATT>GTT		activated leukocyte cell adhesion molecule							163.0	146.0	152.0					3																	105238952		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105238952A>G	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.115A>G	3.37:g.105238952A>G	ENSP00000305988:p.Ile39Val					ALCAM_uc003dvv.2_Missense_Mutation_p.I39V|ALCAM_uc003dvw.1_Missense_Mutation_p.I39V|ALCAM_uc003dvy.2_Missense_Mutation_p.I39V|ALCAM_uc011bhh.1_5'UTR	p.I39V	NM_001627	NP_001618	Q13740	CD166_HUMAN			2	655	+			39			Extracellular (Potential).|Ig-like V-type 1.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.115A>G	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.852321	0.71719	.	.	ENSG00000170017	ENST00000306107;ENST00000472644	T;T	0.56444	0.46;0.46	5.51	5.51	0.81932	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.089399	0.85682	N	0.000000	T	0.64427	0.2597	L	0.59436	1.845	0.80722	D	1	D;D;P	0.63880	0.993;0.993;0.898	D;D;D	0.76071	0.987;0.987;0.956	T	0.61297	-0.7091	10	0.02654	T	1	-18.4319	15.9198	0.79552	1.0:0.0:0.0:0.0	.	39;39;39	B4DTU0;Q13740;Q6PEY4	.;CD166_HUMAN;.	V	39	ENSP00000305988:I39V;ENSP00000419236:I39V	ENSP00000305988:I39V	I	+	1	0	ALCAM	106721642	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.361000	0.73070	2.222000	0.72286	0.454000	0.30748	ATT		PASS	0.383	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		70	152	70	152	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108174595	108174595	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:108174595A>T	ENST00000273353.3	-	21	2366	c.2310T>A	c.(2308-2310)ttT>ttA	p.F770L	MYH15_ENST00000495753.2_5'Flank	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	770	Actin-binding. {ECO:0000250}.|Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.F770L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TAGTGATTCCAAATCGGTACT	0.418																																						uc003dxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(2308-2310)TTT>TTA		myosin, heavy polypeptide 15							188.0	180.0	182.0					3																	108174595		1850	4097	5947	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108174595A>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2310T>A	3.37:g.108174595A>T	ENSP00000273353:p.Phe770Leu						p.F770L	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			21	2367	-			770			Myosin head-like.|Actin-binding (By similarity).			Missense_Mutation	SNP	ENST00000273353.3	37	c.2310T>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.198060	0.58126	.	.	ENSG00000144821	ENST00000273353	D	0.86497	-2.13	5.91	0.862	0.19056	Myosin head, motor domain (2);	.	.	.	.	T	0.76891	0.4051	N	0.25426	0.745	0.29000	N	0.887529	B	0.17268	0.021	B	0.22601	0.04	T	0.63633	-0.6593	9	0.30078	T	0.28	.	6.8069	0.23782	0.6262:0.1236:0.2502:0.0	.	770	Q9Y2K3	MYH15_HUMAN	L	770	ENSP00000273353:F770L	ENSP00000273353:F770L	F	-	3	2	MYH15	109657285	1.000000	0.71417	0.338000	0.25549	0.988000	0.76386	1.303000	0.33470	0.125000	0.18397	0.533000	0.62120	TTT		PASS	0.418	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		39	218	39	218	---	---	---	---
KIAA1524	57650	broad.mit.edu	37	3	108279531	108279531	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:108279531C>T	ENST00000295746.8	-	14	1868	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E439K|KIAA1524_ENST00000487834.1_5'Flank	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	598					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E598K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATTAATTCTTCAATATTCAAT	0.348																																						uc003dxb.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1792-1794)GAA>AAA		p90 autoantigen							146.0	151.0	149.0					3																	108279531		2203	4300	6503	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108279531C>T	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.1792G>A	3.37:g.108279531C>T	ENSP00000295746:p.Glu598Lys					KIAA1524_uc010hpv.1_3'UTR	p.E598K	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			14	2061	-			598					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.1792G>A	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212269	0.58452	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.09445	2.98;3.12	5.92	5.03	0.67393	.	0.302859	0.41294	D	0.000919	T	0.10508	0.0257	L	0.29908	0.895	0.33277	D	0.561773	B	0.31077	0.307	B	0.30572	0.117	T	0.09207	-1.0685	10	0.38643	T	0.18	-15.9487	17.6093	0.88048	0.0:0.7773:0.2227:0.0	.	598	Q8TCG1	CIP2A_HUMAN	K	439;598	ENSP00000419487:E439K;ENSP00000295746:E598K	ENSP00000295746:E598K	E	-	1	0	KIAA1524	109762221	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.771000	0.47670	2.809000	0.96659	0.557000	0.71058	GAA		PASS	0.348	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		13	399	13	399	---	---	---	---
DPPA4	55211	broad.mit.edu	37	3	109049596	109049596	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:109049596C>G	ENST00000335658.6	-	5	508	c.454G>C	c.(454-456)Gaa>Caa	p.E152Q	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	152					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E152Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TCCCCCTTTTCCACCTTTAAT	0.438																																						uc003dxq.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(454-456)GAA>CAA		developmental pluripotency associated 4							73.0	76.0	75.0					3																	109049596		2203	4300	6503	SO:0001583	missense	55211					nucleus	protein binding	g.chr3:109049596C>G	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.454G>C	3.37:g.109049596C>G	ENSP00000335306:p.Glu152Gln					DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.E152Q	p.E152Q	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			5	509	-			152					A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	c.454G>C	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	C	6.896	0.534791	0.13188	.	.	ENSG00000121570	ENST00000335658	T	0.24538	1.85	3.91	-1.05	0.10036	.	1.193380	0.06112	N	0.667414	T	0.19248	0.0462	L	0.46157	1.445	0.09310	N	1	B;B	0.26744	0.158;0.085	B;B	0.20767	0.031;0.01	T	0.26292	-1.0107	9	.	.	.	0.1644	4.078	0.09912	0.0:0.4095:0.1752:0.4153	.	142;152	B7Z5Q7;Q7L190	.;DPPA4_HUMAN	Q	152	ENSP00000335306:E152Q	.	E	-	1	0	DPPA4	110532286	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.135000	0.15952	-0.233000	0.09797	-0.251000	0.11542	GAA		PASS	0.438	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		8	194	8	194	---	---	---	---
PHLDB2	90102	broad.mit.edu	37	3	111603055	111603055	+	Missense_Mutation	SNP	C	C	T	rs538814161		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:111603055C>T	ENST00000431670.2	+	2	542	c.131C>T	c.(130-132)tCt>tTt	p.S44F	PHLDB2_ENST00000412622.1_Missense_Mutation_p.S44F|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S44F|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S44F|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S44F|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S71F|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S44F	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	44						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.S44F(2)|p.S71F(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAGAAATACTCTTCCAGTCTG	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		19384	0.0		0.0	False		,,,				2504	0.001					uc010hqa.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|skin(2)	6						c.(130-132)TCT>TTT		pleckstrin homology-like domain, family B,							135.0	137.0	136.0					3																	111603055		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603055C>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.131C>T	3.37:g.111603055C>T	ENSP00000405405:p.Ser44Phe					PHLDB2_uc003dyc.2_Missense_Mutation_p.S71F|PHLDB2_uc003dyd.2_Missense_Mutation_p.S44F|PHLDB2_uc003dyg.2_Missense_Mutation_p.S44F|PHLDB2_uc003dyh.2_Missense_Mutation_p.S44F|PHLDB2_uc003dye.3_Missense_Mutation_p.S44F|PHLDB2_uc003dyf.3_Missense_Mutation_p.S44F	p.S44F	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			2	542	+			44					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.131C>T	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919060	0.52546	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.36699	1.24;1.28;1.25;1.26;1.28;1.25	5.87	5.87	0.94306	.	0.199077	0.45361	D	0.000367	T	0.52805	0.1757	L	0.47716	1.5	0.42755	D	0.993787	B;D;B;B;B	0.61080	0.001;0.989;0.047;0.001;0.003	B;D;B;B;B	0.63192	0.002;0.912;0.032;0.004;0.006	T	0.50550	-0.8815	10	0.87932	D	0	.	17.4969	0.87720	0.0:1.0:0.0:0.0	.	44;44;44;44;71	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	F	71;71;44;44;44;44;44;44;44	ENSP00000377500:S71F;ENSP00000405405:S44F;ENSP00000405292:S44F;ENSP00000418296:S44F;ENSP00000377502:S44F;ENSP00000418319:S44F	ENSP00000352764:S71F	S	+	2	0	PHLDB2	113085745	0.951000	0.32395	0.986000	0.45419	0.992000	0.81027	3.568000	0.53820	2.941000	0.99782	0.655000	0.94253	TCT		PASS	0.448	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		47	328	47	328	---	---	---	---
PHLDB2	90102	broad.mit.edu	37	3	111603312	111603312	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:111603312C>G	ENST00000431670.2	+	2	799	c.388C>G	c.(388-390)Cat>Gat	p.H130D	PHLDB2_ENST00000412622.1_Missense_Mutation_p.H130D|PHLDB2_ENST00000393925.3_Missense_Mutation_p.H130D|PHLDB2_ENST00000481953.1_Missense_Mutation_p.H130D|PHLDB2_ENST00000478922.1_Missense_Mutation_p.H130D|PHLDB2_ENST00000393923.3_Missense_Mutation_p.H157D|PHLDB2_ENST00000477695.1_Missense_Mutation_p.H130D	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	130						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.H130D(2)|p.H157D(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGACTTTGATCATTATACTGG	0.443																																						uc010hqa.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|skin(2)	6						c.(388-390)CAT>GAT		pleckstrin homology-like domain, family B,							168.0	182.0	177.0					3																	111603312		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603312C>G		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.388C>G	3.37:g.111603312C>G	ENSP00000405405:p.His130Asp					PHLDB2_uc003dyc.2_Missense_Mutation_p.H157D|PHLDB2_uc003dyd.2_Missense_Mutation_p.H130D|PHLDB2_uc003dyg.2_Missense_Mutation_p.H130D|PHLDB2_uc003dyh.2_Missense_Mutation_p.H130D|PHLDB2_uc003dye.3_Missense_Mutation_p.H130D|PHLDB2_uc003dyf.3_Missense_Mutation_p.H130D	p.H130D	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			2	799	+			130					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.388C>G	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	4.034	0.003867	0.07866	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.31510	1.49;1.51;1.5;1.5;1.51;1.5	5.49	4.61	0.57282	.	0.707347	0.13993	N	0.348683	T	0.23210	0.0561	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.33583	0.012;0.078;0.418;0.02;0.02	B;B;B;B;B	0.27796	0.006;0.036;0.083;0.014;0.023	T	0.09335	-1.0679	10	0.32370	T	0.25	.	11.7635	0.51918	0.3175:0.6825:0.0:0.0	.	130;130;130;130;157	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	D	157;157;130;130;130;130;130;130;130	ENSP00000377500:H157D;ENSP00000405405:H130D;ENSP00000405292:H130D;ENSP00000418296:H130D;ENSP00000377502:H130D;ENSP00000418319:H130D	ENSP00000352764:H157D	H	+	1	0	PHLDB2	113086002	0.033000	0.19621	0.069000	0.20011	0.282000	0.26991	2.441000	0.44864	1.418000	0.47098	0.655000	0.94253	CAT		PASS	0.443	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		61	498	61	498	---	---	---	---
GCSAM	257144	broad.mit.edu	37	3	111842400	111842400	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:111842400C>T	ENST00000308910.4	-	6	623	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Missense_Mutation_p.E149K	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility	147					negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)	p.E147K(1)									AGTTCATATTCATCTTCTGGG	0.488																																						uc003dys.1																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)GAA>AAA		germinal center expressed transcript 2 isoform							150.0	157.0	155.0					3																	111842400		2203	4300	6503	SO:0001583	missense	257144					mitochondrion		g.chr3:111842400C>T	BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"""human germinal center-associated lymphoma"""	607792	"""germinal center expressed transcript 2"""	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.439G>A	3.37:g.111842400C>T	ENSP00000309487:p.Glu147Lys					C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dyt.1_Missense_Mutation_p.E81K	p.E147K	NM_152785	NP_689998	Q8N6F7	GCET2_HUMAN			6	589	-			147					C9JD17|C9JUG6	Missense_Mutation	SNP	ENST00000308910.4	37	c.439G>A	CCDS2964.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089080	0.55968	.	.	ENSG00000174500	ENST00000308910;ENST00000484193;ENST00000460387	.	.	.	3.94	3.05	0.35203	.	0.296299	0.24001	N	0.042466	T	0.53626	0.1808	L	0.55481	1.735	0.09310	N	1	D	0.76494	0.999	D	0.65443	0.935	T	0.39603	-0.9606	9	0.66056	D	0.02	-3.1495	9.7027	0.40196	0.0:0.7889:0.2111:0.0	.	147	Q8N6F7	GCET2_HUMAN	K	147;149;132	.	ENSP00000309487:E147K	E	-	1	0	GCET2	113325090	0.830000	0.29337	0.055000	0.19348	0.007000	0.05969	1.700000	0.37815	1.232000	0.43678	0.655000	0.94253	GAA		PASS	0.488	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353967.2	NM_152785		12	265	12	265	---	---	---	---
CFAP44	55779	broad.mit.edu	37	3	113138899	113138899	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:113138899G>A	ENST00000295868.2	-	5	697	c.535C>T	c.(535-537)Cga>Tga	p.R179*	WDR52-AS1_ENST00000473329.1_RNA|WDR52_ENST00000393845.2_Nonsense_Mutation_p.R179*|WDR52-AS1_ENST00000498480.1_RNA	NM_018338.3	NP_060808.2												p.R179*(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTGCTACTTCGCAGGTAGATC	0.433																																						uc003eae.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(535-537)CGA>TGA		WD repeat domain 52 isoform 2							108.0	102.0	104.0					3																	113138899		2203	4300	6503	SO:0001587	stop_gained	55779							g.chr3:113138899G>A																												ENST00000295868.2:c.535C>T	3.37:g.113138899G>A	ENSP00000295868:p.Arg179*						p.R179*	NM_018338	NP_060808	Q96MT7	WDR52_HUMAN			5	581	-			179						Nonsense_Mutation	SNP	ENST00000295868.2	37	c.535C>T	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620359	0.66787	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	.	.	.	5.35	3.5	0.40072	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5472	0.56206	0.0:0.0:0.6967:0.3033	.	.	.	.	X	179	.	ENSP00000295868:R179X	R	-	1	2	WDR52	114621589	1.000000	0.71417	0.995000	0.50966	0.232000	0.25224	4.156000	0.58138	0.598000	0.29829	0.591000	0.81541	CGA		PASS	0.433	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			56	94	56	94	---	---	---	---
GRAMD1C	54762	broad.mit.edu	37	3	113563411	113563411	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:113563411C>G	ENST00000358160.4	+	2	581	c.89C>G	c.(88-90)cCt>cGt	p.P30R	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	30						integral component of membrane (GO:0016021)		p.P30R(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						GAGGAAAATCCTAGTCCAACT	0.373																																						uc003eaq.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(88-90)CCT>CGT		GRAM domain containing 1C							126.0	132.0	130.0					3																	113563411		2203	4300	6503	SO:0001583	missense	54762					integral to membrane		g.chr3:113563411C>G		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.89C>G	3.37:g.113563411C>G	ENSP00000350881:p.Pro30Arg					GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA	p.P30R	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN			2	165	+			30					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.89C>G	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	C	3.679	-0.065985	0.07273	.	.	ENSG00000178075	ENST00000358160	T	0.29397	1.57	5.58	1.17	0.20885	.	0.889887	0.09732	N	0.762998	T	0.20901	0.0503	N	0.19112	0.55	0.09310	N	0.999994	B	0.29085	0.232	B	0.35727	0.209	T	0.40021	-0.9585	10	0.19147	T	0.46	.	8.4699	0.32980	0.0:0.5898:0.0:0.4102	.	30	Q8IYS0	GRM1C_HUMAN	R	30	ENSP00000350881:P30R	ENSP00000350881:P30R	P	+	2	0	GRAMD1C	115046101	0.008000	0.16893	0.001000	0.08648	0.251000	0.25915	0.572000	0.23684	0.060000	0.16281	-0.797000	0.03246	CCT		PASS	0.373	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		26	241	26	241	---	---	---	---
GRAMD1C	54762	broad.mit.edu	37	3	113664295	113664295	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:113664295G>A	ENST00000358160.4	+	18	2451	c.1959G>A	c.(1957-1959)aaG>aaA	p.K653K	ZDHHC23_ENST00000498275.1_5'Flank|RP11-255E6.6_ENST00000609657.1_RNA|GRAMD1C_ENST00000440446.2_Silent_p.K448K|ZDHHC23_ENST00000330212.3_5'Flank|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_Silent_p.K382K|GRAMD1C_ENST00000472026.1_Silent_p.K486K	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	653						integral component of membrane (GO:0016021)		p.K653K(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TACTAAATAAGAATAAGACTG	0.338																																						uc003eaq.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1957-1959)AAG>AAA		GRAM domain containing 1C							62.0	68.0	66.0					3																	113664295		2203	4300	6503	SO:0001819	synonymous_variant	54762					integral to membrane		g.chr3:113664295G>A		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1959G>A	3.37:g.113664295G>A						GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc003ear.2_Silent_p.K486K|GRAMD1C_uc003eas.2_Silent_p.K448K|GRAMD1C_uc003eat.2_Silent_p.K312K|ZDHHC23_uc003eau.2_5'Flank|ZDHHC23_uc003eav.2_5'Flank	p.K653K	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN			18	2035	+			653					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Silent	SNP	ENST00000358160.4	37	c.1959G>A	CCDS33826.1																																																																																				PASS	0.338	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		17	121	17	121	---	---	---	---
KIAA1407	57577	broad.mit.edu	37	3	113720457	113720457	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:113720457C>G	ENST00000295878.3	-	13	2294	c.2148G>C	c.(2146-2148)aaG>aaC	p.K716N	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	716								p.K716N(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCTTCAGTCTCTTCTCTTCTC	0.453																																						uc003eax.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2146-2148)AAG>AAC		hypothetical protein LOC57577							298.0	275.0	283.0					3																	113720457		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113720457C>G	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2148G>C	3.37:g.113720457C>G	ENSP00000295878:p.Lys716Asn					KIAA1407_uc011bin.1_RNA	p.K716N	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN			13	2295	-			716			Potential.		B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.2148G>C	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602853	0.46423	.	.	ENSG00000163617	ENST00000295878	T	0.44482	0.92	5.19	2.09	0.27110	.	0.192121	0.53938	D	0.000044	T	0.49355	0.1552	M	0.77103	2.36	0.80722	D	1	D	0.53462	0.96	P	0.50537	0.643	T	0.49360	-0.8948	10	0.66056	D	0.02	.	7.6651	0.28426	0.0:0.6935:0.0:0.3065	.	716	Q8NCU4	K1407_HUMAN	N	716	ENSP00000295878:K716N	ENSP00000295878:K716N	K	-	3	2	KIAA1407	115203147	0.996000	0.38824	0.995000	0.50966	0.983000	0.72400	0.704000	0.25661	0.306000	0.22856	0.650000	0.86243	AAG		PASS	0.453	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		48	224	48	224	---	---	---	---
GPR156	165829	broad.mit.edu	37	3	119886737	119886737	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:119886737C>G	ENST00000464295.1	-	10	2032	c.1587G>C	c.(1585-1587)gaG>gaC	p.E529D	GPR156_ENST00000315843.3_Missense_Mutation_p.E529D|GPR156_ENST00000461057.1_Missense_Mutation_p.E525D			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	529						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.E529D(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CCTCTGAGTTCTCCAGATGCC	0.582																																						uc011bjf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1585-1587)GAG>GAC		G protein-coupled receptor 156							101.0	118.0	112.0					3																	119886737		2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119886737C>G	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1587G>C	3.37:g.119886737C>G	ENSP00000417261:p.Glu529Asp					GPR156_uc011bjg.1_Missense_Mutation_p.E525D	p.E529D	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	9	1587	-			529			Cytoplasmic (Potential).		B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.1587G>C	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082924	0.36758	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.24908	1.83;1.83;1.83	4.27	2.28	0.28536	.	0.430239	0.21248	N	0.077684	T	0.17365	0.0417	L	0.54323	1.7	0.09310	N	1	B;B	0.22346	0.068;0.068	B;B	0.11329	0.006;0.006	T	0.14364	-1.0475	9	.	.	.	-3.4009	0.5229	0.00615	0.1841:0.3486:0.1791:0.2882	.	525;529	E9PFZ4;Q8NFN8	.;GP156_HUMAN	D	529;529;525	ENSP00000417261:E529D;ENSP00000324553:E529D;ENSP00000418758:E525D	.	E	-	3	2	GPR156	121369427	0.002000	0.14202	0.025000	0.17156	0.955000	0.61496	0.373000	0.20484	1.023000	0.39654	0.563000	0.77884	GAG		PASS	0.582	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		80	264	80	264	---	---	---	---
HGD	3081	broad.mit.edu	37	3	120347245	120347245	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:120347245G>T	ENST00000283871.5	-	14	1779	c.1320C>A	c.(1318-1320)aaC>aaA	p.N440K		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	440					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)	p.N440K(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GTTCTGCTGGGTTCCTGGAGT	0.468																																						uc003edw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1318-1320)AAC>AAA		homogentisate 1,2-dioxygenase							189.0	186.0	187.0					3																	120347245		2203	4296	6499	SO:0001583	missense	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120347245G>T		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.1320C>A	3.37:g.120347245G>T	ENSP00000283871:p.Asn440Lys					HGD_uc003edv.2_Missense_Mutation_p.N299K	p.N440K	NM_000187	NP_000178	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	14	1690	-			440					A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	c.1320C>A	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	G	6.565	0.472597	0.12461	.	.	ENSG00000113924	ENST00000283871	D	0.98926	-5.24	5.02	-1.3	0.09259	Cupin, RmlC-type (1);	0.659026	0.13204	N	0.405745	D	0.94006	0.8080	L	0.36672	1.1	0.25706	N	0.985533	B	0.02656	0.0	B	0.01281	0.0	D	0.85834	0.1393	10	0.12103	T	0.63	-1.3459	0.4089	0.00438	0.2543:0.1414:0.3146:0.2898	.	440	Q93099	HGD_HUMAN	K	440	ENSP00000283871:N440K	ENSP00000283871:N440K	N	-	3	2	HGD	121829935	1.000000	0.71417	0.686000	0.30086	0.390000	0.30446	1.535000	0.36061	-0.500000	0.06614	0.563000	0.77884	AAC		PASS	0.468	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			51	296	51	296	---	---	---	---
CASR	846	broad.mit.edu	37	3	122003739	122003739	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:122003739G>C	ENST00000490131.1	+	7	3310	c.2938G>C	c.(2938-2940)Gat>Cat	p.D980H	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.D980H|CASR_ENST00000498619.1_Missense_Mutation_p.D990H	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	980					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.D980H(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACTGAGCTTTGATGAGCCTCA	0.582																																						uc003eev.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(2938-2940)GAT>CAT		calcium-sensing receptor precursor	Cinacalcet(DB01012)						72.0	68.0	69.0					3																	122003739		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003739G>C	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2938G>C	3.37:g.122003739G>C	ENSP00000418685:p.Asp980His					CASR_uc003eew.3_Missense_Mutation_p.D990H	p.D980H	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3310	+			980			Cytoplasmic (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2938G>C	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656565	0.67586	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.90069	-2.61;-2.56;-2.61	5.79	5.79	0.91817	.	0.100986	0.64402	D	0.000003	D	0.88451	0.6440	N	0.19112	0.55	0.58432	D	0.999999	D;D	0.58620	0.983;0.983	P;P	0.54499	0.754;0.754	D	0.90023	0.4129	10	0.87932	D	0	.	19.0289	0.92946	0.0:0.0:1.0:0.0	.	990;980	E7ENE0;P41180	.;CASR_HUMAN	H	980;990;980	ENSP00000418685:D980H;ENSP00000420194:D990H;ENSP00000296154:D980H	ENSP00000296154:D980H	D	+	1	0	CASR	123486429	1.000000	0.71417	0.821000	0.32701	0.893000	0.52053	8.994000	0.93529	2.746000	0.94184	0.561000	0.74099	GAT		PASS	0.582	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		3	82	3	82	---	---	---	---
FAM162A	26355	broad.mit.edu	37	3	122126180	122126180	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:122126180C>G	ENST00000477892.1	+	4	400	c.316C>G	c.(316-318)Cta>Gta	p.L106V	FAM162A_ENST00000232125.5_Missense_Mutation_p.L96V|FAM162A_ENST00000469967.1_Missense_Mutation_p.L106V	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	106					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L106V(2)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						GATCAGCTATCTAATGATTGC	0.418																																						uc003eez.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(316-318)CTA>GTA		growth and transformation-dependent protein							176.0	171.0	172.0					3																	122126180		1963	4168	6131	SO:0001583	missense	26355					integral to membrane		g.chr3:122126180C>G	AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"""chromosome 3 open reading frame 28"""	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.316C>G	3.37:g.122126180C>G	ENSP00000419088:p.Leu106Val					FAM162A_uc011bjq.1_Missense_Mutation_p.L106V	p.L106V	NM_014367	NP_055182	Q96A26	F162A_HUMAN			4	406	+			106			Helical; (Potential).		Q9NRN6|Q9UJX8	Missense_Mutation	SNP	ENST00000477892.1	37	c.316C>G	CCDS43139.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.008524	0.00426	.	.	ENSG00000114023	ENST00000232125;ENST00000477892;ENST00000469967;ENST00000440333	T;T;T	0.32023	1.47;1.47;1.47	5.48	-11.0	0.00169	.	1.379060	0.04229	N	0.334935	T	0.11922	0.0290	N	0.20401	0.57	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.17098	0.017;0.015	T	0.18178	-1.0345	10	0.02654	T	1	.	3.6261	0.08113	0.4237:0.3149:0.0729:0.1885	.	106;106	E9PH05;Q96A26	.;F162A_HUMAN	V	96;106;106;105	ENSP00000232125:L96V;ENSP00000419088:L106V;ENSP00000419491:L106V	ENSP00000232125:L96V	L	+	1	2	FAM162A	123608870	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.272000	0.01165	-4.306000	0.00057	-1.778000	0.00651	CTA		PASS	0.418	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355766.1	NM_014367		29	159	29	159	---	---	---	---
DIRC2	84925	broad.mit.edu	37	3	122545861	122545861	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:122545861G>C	ENST00000261038.5	+	3	1050	c.652G>C	c.(652-654)Gag>Cag	p.E218Q		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	218					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.E218Q(1)		endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TCTTGCTGCAGAGAGCAGCAG	0.408																																						uc003efw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(652-654)GAG>CAG		disrupted in renal carcinoma 2							131.0	118.0	122.0					3																	122545861		2203	4300	6503	SO:0001583	missense	84925				transport	integral to membrane		g.chr3:122545861G>C	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.652G>C	3.37:g.122545861G>C	ENSP00000261038:p.Glu218Gln					DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Missense_Mutation_p.E56Q	p.E218Q	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	3	791	+			218					A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	c.652G>C	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566492	0.27915	.	.	ENSG00000138463	ENST00000261038	D	0.91295	-2.82	5.89	5.89	0.94794	Major facilitator superfamily domain, general substrate transporter (1);	0.384139	0.32055	N	0.006649	T	0.80470	0.4629	N	0.03608	-0.345	0.31833	N	0.624432	B	0.11235	0.004	B	0.09377	0.004	T	0.72221	-0.4356	10	0.19147	T	0.46	.	19.3093	0.94179	0.0:0.0:1.0:0.0	.	218	Q96SL1	DIRC2_HUMAN	Q	218	ENSP00000261038:E218Q	ENSP00000261038:E218Q	E	+	1	0	DIRC2	124028551	0.910000	0.30920	0.995000	0.50966	0.526000	0.34562	2.351000	0.44071	2.810000	0.96702	0.650000	0.86243	GAG		PASS	0.408	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		97	165	97	165	---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123420317	123420317	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:123420317C>A	ENST00000475616.1	-	14	2429	c.2430G>T	c.(2428-2430)atG>atT	p.M810I	MYLK_ENST00000346322.5_Missense_Mutation_p.M741I|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360304.3_Missense_Mutation_p.M810I|MYLK_ENST00000359169.1_Missense_Mutation_p.M810I|MYLK_ENST00000360772.3_Missense_Mutation_p.M810I			Q15746	MYLK_HUMAN	myosin light chain kinase	810	Ig-like C2-type 6.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.M810I(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGTTCTGTAGCATCAGTGACA	0.597																																						uc003ego.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|stomach(1)	9						c.(2428-2430)ATG>ATT		myosin light chain kinase isoform 1							70.0	74.0	72.0					3																	123420317		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123420317C>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2430G>T	3.37:g.123420317C>A	ENSP00000418335:p.Met810Ile					MYLK_uc011bjw.1_Missense_Mutation_p.M810I|MYLK_uc003egp.2_Missense_Mutation_p.M741I|MYLK_uc003egq.2_Missense_Mutation_p.M810I|MYLK_uc003egr.2_Missense_Mutation_p.M741I|MYLK_uc003egs.2_Missense_Mutation_p.M634I|MYLK_uc003egt.2_Missense_Mutation_p.M1I	p.M810I	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	17	2712	-		Lung NSC(201;0.0496)	810			Ig-like C2-type 6.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.2430G>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733430	0.30684	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	5.15	5.15	0.70609	Immunoglobulin-like fold (1);	.	.	.	.	T	0.28433	0.0703	N	0.10809	0.05	0.80722	D	1	B;P;B;P;B	0.44090	0.317;0.685;0.317;0.826;0.367	B;B;B;B;B	0.42522	0.067;0.312;0.067;0.39;0.11	T	0.05305	-1.0893	9	0.13853	T	0.58	.	18.8704	0.92311	0.0:1.0:0.0:0.0	.	810;741;810;741;810	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	I	810;810;810;741;810	ENSP00000354004:M810I;ENSP00000353452:M810I;ENSP00000352088:M810I;ENSP00000320622:M741I;ENSP00000418335:M810I	ENSP00000320622:M741I	M	-	3	0	MYLK	124903007	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	5.139000	0.64801	2.703000	0.92315	0.556000	0.70494	ATG		PASS	0.597	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		21	121	21	121	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124281801	124281801	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:124281801G>T	ENST00000393496.1	+	2	324	c.160G>T	c.(160-162)Gag>Tag	p.E54*	KALRN_ENST00000360013.3_Nonsense_Mutation_p.E1681*			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1681	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E1681*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCGGCCCAGCGAGCGGCCTGG	0.657																																						uc003ehg.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(5041-5043)GAG>TAG		kalirin, RhoGEF kinase isoform 1							32.0	37.0	35.0					3																	124281801		2051	4199	6250	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124281801G>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000393496.1:c.160G>T	3.37:g.124281801G>T	ENSP00000377134:p.Glu54*					KALRN_uc003ehi.2_Nonsense_Mutation_p.E54*	p.E1681*	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			34	5168	+			1681			SH3 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000393496.1	37	c.5041G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.709100	0.98447	.	.	ENSG00000160145	ENST00000360013;ENST00000393496	.	.	.	4.64	3.77	0.43336	.	0.224693	0.35870	N	0.002921	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	13.131	0.59382	0.0775:0.0:0.9225:0.0	.	.	.	.	X	1681;54	.	ENSP00000353109:E1681X	E	+	1	0	KALRN	125764491	1.000000	0.71417	0.806000	0.32338	0.975000	0.68041	9.598000	0.98277	1.324000	0.45282	0.655000	0.94253	GAG		PASS	0.657	KALRN-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000258840.2	NM_003947		8	57	8	57	---	---	---	---
C3orf27	23434	broad.mit.edu	37	3	128292467	128292467	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:128292467G>A	ENST00000356020.2	-	3	1072	c.106C>T	c.(106-108)Cag>Tag	p.Q36*		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	36								p.Q36*(1)		large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		CCTAGGGGCTGAGAGTCTGGG	0.642																																						uc003ekq.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(106-108)CAG>TAG		putative GR6 protein							32.0	34.0	33.0					3																	128292467		2203	4299	6502	SO:0001587	stop_gained	23434							g.chr3:128292467G>A	AF008192	CCDS3050.1	3q21	2005-12-19			ENSG00000198685	ENSG00000198685			17099	protein-coding gene	gene with protein product						9307271	Standard	NR_125802		Approved	GR6	uc003ekq.3	O15544	OTTHUMG00000159688	ENST00000356020.2:c.106C>T	3.37:g.128292467G>A	ENSP00000348302:p.Gln36*						p.Q36*	NM_007354	NP_031380	O15544	GR6_HUMAN		GBM - Glioblastoma multiforme(114;0.176)	3	1073	-			36						Nonsense_Mutation	SNP	ENST00000356020.2	37	c.106C>T	CCDS3050.1	.	.	.	.	.	.	.	.	.	.	G	41	8.840584	0.98974	.	.	ENSG00000198685	ENST00000356020	.	.	.	2.52	-0.659	0.11424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	0.9822	0.01438	0.1518:0.2312:0.3816:0.2355	.	.	.	.	X	36	.	ENSP00000348302:Q36X	Q	-	1	0	C3orf27	129775157	0.000000	0.05858	0.000000	0.03702	0.236000	0.25371	0.030000	0.13688	-0.026000	0.13895	0.491000	0.48974	CAG		PASS	0.642	C3orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356924.1	NM_007354		5	95	5	95	---	---	---	---
ACAD9	28976	broad.mit.edu	37	3	128631375	128631375	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:128631375G>C	ENST00000308982.7	+	18	1872	c.1791G>C	c.(1789-1791)caG>caC	p.Q597H	KIAA1257_ENST00000511438.1_Intron|ACAD9_ENST00000511526.1_3'UTR|RP11-723O4.6_ENST00000508239.1_Intron	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	597						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.Q597H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						TAGATGAGCAGATTAAGAAAG	0.522																																						uc003ela.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1789-1791)CAG>CAC		acyl-Coenzyme A dehydrogenase family, member 9							92.0	79.0	83.0					3																	128631375		2203	4300	6503	SO:0001583	missense	28976					mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:128631375G>C	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1791G>C	3.37:g.128631375G>C	ENSP00000312618:p.Gln597His					KIAA1257_uc003elg.1_Intron|ACAD9_uc011bks.1_Missense_Mutation_p.Q474H|ACAD9_uc003elb.2_Missense_Mutation_p.Q474H|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Missense_Mutation_p.Q249H|uc003elf.1_Intron	p.Q597H	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN			18	1993	+			597					D3DNB8|Q8WXX3	Missense_Mutation	SNP	ENST00000308982.7	37	c.1791G>C	CCDS3053.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.12|12.12	1.843268|1.843268	0.32606|0.32606	.|.	.|.	ENSG00000177646|ENSG00000177646	ENST00000308982;ENST00000334167|ENST00000406840	T|.	0.76578|.	-1.03|.	5.47|5.47	1.54|1.54	0.23209|0.23209	.|.	0.560536|.	0.19879|.	N|.	0.104020|.	T|T	0.36496|0.36496	0.0969|0.0969	N|N	0.17674|0.17674	0.51|0.51	0.80722|0.80722	D|D	1|1	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.39840|0.39840	-0.9594|-0.9594	10|6	0.14252|0.87932	T|D	0.57|0	.|.	1.2862|1.2862	0.02051|0.02051	0.1755:0.1415:0.4109:0.2722|0.1755:0.1415:0.4109:0.2722	.|.	597|.	Q9H845|.	ACAD9_HUMAN|.	H|T	597;464|73	ENSP00000312618:Q597H|.	ENSP00000312618:Q597H|ENSP00000384784:R73T	Q|R	+|+	3|2	2|0	ACAD9|ACAD9	130114065|130114065	0.685000|0.685000	0.27652|0.27652	0.006000|0.006000	0.13384|0.13384	0.986000|0.986000	0.74619|0.74619	0.691000|0.691000	0.25467|0.25467	1.314000|1.314000	0.45095|0.45095	-0.194000|-0.194000	0.12790|0.12790	CAG|AGA		PASS	0.522	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049		28	93	28	93	---	---	---	---
KIAA1257	57501	broad.mit.edu	37	3	128706490	128706490	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:128706490G>T	ENST00000265068.5	-	4	803	c.636C>A	c.(634-636)ttC>ttA	p.F212L	KIAA1257_ENST00000511438.1_Missense_Mutation_p.F212L|KIAA1257_ENST00000515659.1_Missense_Mutation_p.F100L|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	212								p.F212L(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CGTCGTCTGTGAAGCCGGCAG	0.408																																						uc003elj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)TTC>TTA		hypothetical protein LOC57501							133.0	130.0	131.0					3																	128706490		1845	4079	5924	SO:0001583	missense	57501							g.chr3:128706490G>T	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.636C>A	3.37:g.128706490G>T	ENSP00000265068:p.Phe212Leu					KIAA1257_uc003elg.1_Missense_Mutation_p.F212L|KIAA1257_uc003eli.3_Missense_Mutation_p.F100L	p.F212L	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN			4	832	-			212					Q8IXY7|Q8N5T4	Missense_Mutation	SNP	ENST00000265068.5	37	c.636C>A	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	G	6.766	0.510227	0.12883	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	5.13	-6.48	0.01896	.	1.082200	0.07261	N	0.867568	T	0.10380	0.0254	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33574	-0.9863	9	0.07175	T	0.84	-1.3273	6.4257	0.21768	0.4628:0.3691:0.168:0.0	.	212;212	Q9ULG3;D6RH05	K1257_HUMAN;.	L	212;212;100	.	ENSP00000265068:F212L	F	-	3	2	KIAA1257	130189180	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.924000	0.01565	-1.028000	0.03321	-0.291000	0.09656	TTC		PASS	0.408	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		9	176	9	176	---	---	---	---
MBD4	8930	broad.mit.edu	37	3	129152001	129152001	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:129152001C>G	ENST00000249910.1	-	6	1676	c.1501G>C	c.(1501-1503)Gaa>Caa	p.E501Q	MBD4_ENST00000507208.1_Missense_Mutation_p.E501Q|MBD4_ENST00000429544.2_Missense_Mutation_p.E495Q|MBD4_ENST00000509587.1_5'Flank|MBD4_ENST00000393278.2_Missense_Mutation_p.E183Q|MBD4_ENST00000503197.1_Missense_Mutation_p.E501Q	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	501					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.E501Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TTAAGAAGTTCTGACACATCT	0.423								Base excision repair (BER), DNA glycosylases																														uc003emh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1501-1503)GAA>CAA	BER_DNA_glycosylases	methyl-CpG binding domain protein 4							148.0	146.0	147.0					3																	129152001		2203	4300	6503	SO:0001583	missense	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129152001C>G	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1501G>C	3.37:g.129152001C>G	ENSP00000249910:p.Glu501Gln					MBD4_uc003emi.1_Missense_Mutation_p.E501Q|MBD4_uc003emj.1_Missense_Mutation_p.E495Q|MBD4_uc003emk.1_Missense_Mutation_p.E183Q|MBD4_uc011bkw.1_Missense_Mutation_p.E501Q	p.E501Q	NM_003925	NP_003916	O95243	MBD4_HUMAN			6	1677	-			501					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	c.1501G>C	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882731	0.72410	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000393278;ENST00000507208	D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26	6.05	6.05	0.98169	HhH-GPD domain (1);DNA glycosylase (2);	0.049780	0.85682	D	0.000000	D	0.93187	0.7830	M	0.66939	2.045	0.80722	D	1	D;P;P;D;P	0.89917	0.975;0.784;0.781;1.0;0.817	P;P;B;D;B	0.78314	0.571;0.486;0.274;0.991;0.394	D	0.92700	0.6174	10	0.66056	D	0.02	-16.1228	20.2554	0.98417	0.0:1.0:0.0:0.0	.	501;183;495;501;501	E9PEE4;Q2MD36;O95243-2;O95243-3;O95243	.;.;.;.;MBD4_HUMAN	Q	495;501;501;183;501	ENSP00000394080:E495Q;ENSP00000249910:E501Q;ENSP00000424873:E501Q;ENSP00000376959:E183Q;ENSP00000422327:E501Q	ENSP00000249910:E501Q	E	-	1	0	MBD4	130634691	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	4.492000	0.60334	2.886000	0.99085	0.650000	0.86243	GAA		PASS	0.423	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		13	236	13	236	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130305487	130305487	+	Missense_Mutation	SNP	C	C	T	rs371511195		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:130305487C>T	ENST00000358511.6	+	10	4139	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1370W	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1370	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R1370W(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACTTGGAAGCCGGCTGTCAAA	0.368																																						uc010htl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(4108-4110)CGG>TGG		collagen type VI alpha 6 precursor		C	TRP/ARG	1,3653		0,1,1826	81.0	78.0	79.0		4108	4.7	0.9	3		79	1,8177		0,1,4088	no	missense	COL6A6	NM_001102608.1	101	0,2,5914	TT,TC,CC		0.0122,0.0274,0.0169	possibly-damaging	1370/2264	130305487	2,11830	1827	4089	5916	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130305487C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4108C>T	3.37:g.130305487C>T	ENSP00000351310:p.Arg1370Trp					COL6A6_uc003eni.3_5'UTR	p.R1370W	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			10	4139	+			1370			VWFA 7.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.4108C>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502194	0.26949	2.74E-4	1.22E-4	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.89485	-2.5;-2.52	5.65	4.67	0.58626	von Willebrand factor, type A (2);	1.005570	0.08011	N	0.990419	D	0.86012	0.5831	N	0.22421	0.69	0.23975	N	0.9963	D	0.67145	0.996	P	0.47528	0.549	T	0.77778	-0.2460	10	0.72032	D	0.01	.	13.2237	0.59903	0.2434:0.7565:0.0:0.0	.	1370	A6NMZ7	CO6A6_HUMAN	W	1370	ENSP00000351310:R1370W;ENSP00000399236:R1370W	ENSP00000351310:R1370W	R	+	1	2	COL6A6	131788177	0.003000	0.15002	0.921000	0.36526	0.218000	0.24690	0.460000	0.21924	2.827000	0.97445	0.650000	0.86243	CGG		PASS	0.368	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		39	96	39	96	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130340679	130340679	+	Silent	SNP	C	C	T	rs533372119		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:130340679C>T	ENST00000358511.6	+	23	4861	c.4830C>T	c.(4828-4830)ccC>ccT	p.P1610P	COL6A6_ENST00000453409.2_Silent_p.P1610P	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1610	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P1610P(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTCCAGGACCCGGAGGAGAGG	0.433													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17730	0.0		0.0	False		,,,				2504	0.0					uc010htl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(4828-4830)CCC>CCT		collagen type VI alpha 6 precursor							74.0	73.0	73.0					3																	130340679		1818	4070	5888	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130340679C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4830C>T	3.37:g.130340679C>T						COL6A6_uc003eni.3_5'UTR	p.P1610P	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			23	4861	+			1610			Triple-helical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.4830C>T	CCDS46911.1																																																																																				PASS	0.433	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		23	95	23	95	---	---	---	---
PIK3R4	30849	broad.mit.edu	37	3	130435332	130435332	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:130435332T>A	ENST00000356763.3	-	9	2796	c.2239A>T	c.(2239-2241)Atg>Ttg	p.M747L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	747					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.M747L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTCTGACGCATGTGAAGATGT	0.433																																						uc003enj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(2239-2241)ATG>TTG		phosphoinositide-3-kinase, regulatory subunit 4							104.0	103.0	103.0					3																	130435332		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130435332T>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2239A>T	3.37:g.130435332T>A	ENSP00000349205:p.Met747Leu						p.M747L	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			9	2820	-			747					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.2239A>T	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.498610	0.44455	.	.	ENSG00000196455	ENST00000356763;ENST00000508273;ENST00000507330;ENST00000512430	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.21	5.21	0.72293	.	0.047546	0.85682	D	0.000000	T	0.16896	0.0406	N	0.11560	0.145	0.43846	D	0.996435	B	0.02656	0.0	B	0.01281	0.0	T	0.11518	-1.0584	10	0.09843	T	0.71	-30.4712	8.2594	0.31775	0.1301:0.0:0.1354:0.7345	.	747	Q99570	PI3R4_HUMAN	L	747;106;106;106	ENSP00000349205:M747L;ENSP00000427302:M106L;ENSP00000424274:M106L;ENSP00000422767:M106L	ENSP00000349205:M747L	M	-	1	0	PIK3R4	131918022	0.991000	0.36638	1.000000	0.80357	0.991000	0.79684	1.633000	0.37113	1.975000	0.57531	0.533000	0.62120	ATG		PASS	0.433	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		31	157	31	157	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132175390	132175390	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:132175390C>T	ENST00000260818.6	+	11	1393	c.1145C>T	c.(1144-1146)tCa>tTa	p.S382L	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	382					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.S382L(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GCTAATATTTCATACAGTGGA	0.308																																						uc003eor.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1144-1146)TCA>TTA		DnaJ (Hsp40) homolog, subfamily C, member 13							135.0	135.0	135.0					3																	132175390		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132175390C>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1145C>T	3.37:g.132175390C>T	ENSP00000260818:p.Ser382Leu					DNAJC13_uc010htq.1_Missense_Mutation_p.S382L|DNAJC13_uc003eos.1_Missense_Mutation_p.S49L	p.S382L	NM_015268	NP_056083	O75165	DJC13_HUMAN			11	1210	+			382					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.1145C>T	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413450	0.83449	.	.	ENSG00000138246	ENST00000260818	T	0.40476	1.03	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.62344	0.2420	L	0.56769	1.78	0.80722	D	1	P;P;D	0.54601	0.67;0.804;0.967	B;B;D	0.63597	0.214;0.415;0.916	T	0.62459	-0.6850	10	0.87932	D	0	.	20.032	0.97543	0.0:1.0:0.0:0.0	.	382;49;382	A7E2Y5;Q8N7A5;O75165	.;.;DJC13_HUMAN	L	382	ENSP00000260818:S382L	ENSP00000260818:S382L	S	+	2	0	DNAJC13	133658080	1.000000	0.71417	0.995000	0.50966	0.959000	0.62525	7.407000	0.80029	2.743000	0.94032	0.655000	0.94253	TCA		PASS	0.308	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		17	142	17	142	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132257044	132257044	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:132257044C>T	ENST00000260818.6	+	56	6898	c.6650C>T	c.(6649-6651)aCc>aTc	p.T2217I		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2217					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.T2217I(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GGCTACCTTACCGCAGGTACA	0.453																																						uc003eor.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(6649-6651)ACC>ATC		DnaJ (Hsp40) homolog, subfamily C, member 13							117.0	96.0	103.0					3																	132257044		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132257044C>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.6650C>T	3.37:g.132257044C>T	ENSP00000260818:p.Thr2217Ile						p.T2217I	NM_015268	NP_056083	O75165	DJC13_HUMAN			56	6715	+			2217					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.6650C>T	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.792235	0.70452	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.22945	1.93	5.42	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.52468	0.1736	M	0.81942	2.565	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.58272	-0.7665	10	0.87932	D	0	.	14.5376	0.67971	0.0:0.9279:0.0:0.0721	.	2217	O75165	DJC13_HUMAN	I	2217;864	ENSP00000260818:T2217I	ENSP00000260818:T2217I	T	+	2	0	DNAJC13	133739734	1.000000	0.71417	0.951000	0.38953	0.599000	0.36880	7.319000	0.79040	2.545000	0.85829	0.585000	0.79938	ACC		PASS	0.453	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		6	77	6	77	---	---	---	---
NPHP3	27031	broad.mit.edu	37	3	132423047	132423047	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:132423047C>G	ENST00000337331.5	-	9	1605	c.1519G>C	c.(1519-1521)Gag>Cag	p.E507Q	NPHP3_ENST00000476742.1_5'Flank|NPHP3_ENST00000326682.8_Missense_Mutation_p.E507Q	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	507					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.E507Q(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTTACTTTCTCAAATCCCAAC	0.353																																						uc003epe.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1519-1521)GAG>CAG		nephrocystin 3							149.0	149.0	149.0					3																	132423047		2203	4300	6503	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132423047C>G	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1519G>C	3.37:g.132423047C>G	ENSP00000338766:p.Glu507Gln					NPHP3_uc003epf.1_Missense_Mutation_p.E262Q	p.E507Q	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			9	1596	-			507					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.1519G>C	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.508788	0.27036	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;T	0.83335	-1.71;-0.35	5.56	5.56	0.83823	.	0.053417	0.85682	D	0.000000	T	0.72211	0.3432	N	0.25144	0.715	0.80722	D	1	B	0.22080	0.064	B	0.15870	0.014	T	0.66152	-0.5995	10	0.19147	T	0.46	-30.0501	15.3962	0.74794	0.0:0.8613:0.1387:0.0	.	507	Q7Z494	NPHP3_HUMAN	Q	507	ENSP00000319909:E507Q;ENSP00000338766:E507Q	ENSP00000319909:E507Q	E	-	1	0	NPHP3	133905737	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	4.470000	0.60175	2.776000	0.95493	0.655000	0.94253	GAG		PASS	0.353	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		54	273	54	273	---	---	---	---
KY	339855	broad.mit.edu	37	3	134362194	134362194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:134362194G>A	ENST00000423778.2	-	3	287	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	KY_ENST00000508956.1_Intron|KY_ENST00000503669.1_Nonsense_Mutation_p.Q76*	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	76					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)	p.Q76*(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TGGGGCTGCTGAGGGTGCTGC	0.552																																						uc010hty.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(226-228)CAG>TAG		kyphoscoliosis peptidase							100.0	109.0	106.0					3																	134362194		1988	4159	6147	SO:0001587	stop_gained	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134362194G>A	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.226C>T	3.37:g.134362194G>A	ENSP00000397598:p.Gln76*					KY_uc011blw.1_Nonsense_Mutation_p.Q76*|KY_uc011blx.1_Intron|KY_uc003eqs.1_Intron	p.Q76*	NM_178554	NP_848649	Q8NBH2	KY_HUMAN			3	288	-			76					B7Z1S4|Q6ZT15	Nonsense_Mutation	SNP	ENST00000423778.2	37	c.226C>T	CCDS46920.1	.	.	.	.	.	.	.	.	.	.	G	36	5.645742	0.96704	.	.	ENSG00000174611	ENST00000423778;ENST00000503669;ENST00000310263	.	.	.	4.81	4.81	0.61882	.	0.381500	0.22419	N	0.060301	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-6.0998	13.8252	0.63346	0.0:0.0:1.0:0.0	.	.	.	.	X	76	.	ENSP00000309520:Q76X	Q	-	1	0	KY	135844884	1.000000	0.71417	0.983000	0.44433	0.966000	0.64601	4.285000	0.58989	2.393000	0.81446	0.558000	0.71614	CAG		PASS	0.552	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		20	53	20	53	---	---	---	---
PXYLP1	92370	broad.mit.edu	37	3	140997235	140997235	+	Missense_Mutation	SNP	G	G	A	rs573740092		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:140997235G>A	ENST00000286353.4	+	3	268	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393010.2_Missense_Mutation_p.R44Q|ACPL2_ENST00000504264.1_Missense_Mutation_p.R27Q|ACPL2_ENST00000393007.1_Missense_Mutation_p.R28Q|ACPL2_ENST00000508812.1_Missense_Mutation_p.R35Q|ACPL2_ENST00000502783.1_Missense_Mutation_p.R6Q	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		44						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)	p.R44Q(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						AGCAAGAGTCGAAAGAGAATC	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		21008	0.001		0.0	False		,,,				2504	0.0					uc003etu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(130-132)CGA>CAA		acid phosphatase-like 2 precursor							106.0	97.0	100.0					3																	140997235		2203	4300	6503	SO:0001583	missense	92370					extracellular region	acid phosphatase activity	g.chr3:140997235G>A																												ENST00000286353.4:c.131G>A	3.37:g.140997235G>A	ENSP00000286353:p.Arg44Gln					ACPL2_uc003etv.2_Missense_Mutation_p.R44Q|ACPL2_uc011bna.1_Missense_Mutation_p.R6Q|ACPL2_uc011bnb.1_Missense_Mutation_p.R27Q	p.R44Q	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN			5	430	+			44					D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	ENST00000286353.4	37	c.131G>A	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164933	0.94727	.	.	ENSG00000155893	ENST00000505013;ENST00000286353;ENST00000502783;ENST00000393010;ENST00000514680;ENST00000512457;ENST00000504264;ENST00000508812;ENST00000393007	T;T;T;T;T;T	0.25749	1.92;1.78;1.92;1.97;1.95;1.97	5.89	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	M	0.71581	2.175	0.50467	D	0.999876	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.40136	-0.9579	10	0.27785	T	0.31	.	13.024	0.58804	0.078:0.0:0.922:0.0	.	27;44	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	Q	44;44;6;44;44;6;27;35;28	ENSP00000286353:R44Q;ENSP00000422558:R6Q;ENSP00000376733:R44Q;ENSP00000426877:R27Q;ENSP00000422901:R35Q;ENSP00000376731:R28Q	ENSP00000286353:R44Q	R	+	2	0	ACPL2	142479925	1.000000	0.71417	0.952000	0.39060	0.974000	0.67602	8.059000	0.89462	1.496000	0.48567	0.655000	0.94253	CGA		PASS	0.567	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			27	101	27	101	---	---	---	---
RASA2	5922	broad.mit.edu	37	3	141290324	141290324	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:141290324G>T	ENST00000452898.1	+	11	1132	c.1097G>T	c.(1096-1098)cGa>cTa	p.R366L	RASA2_ENST00000286364.3_Missense_Mutation_p.R366L	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	366	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.R366L(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						CCCCTTGTACGACTGCTGCTG	0.368																																						uc003etz.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|breast(1)|skin(1)	6						c.(1096-1098)CGA>CTA		RAS p21 protein activator 2							207.0	196.0	200.0					3																	141290324		2203	4300	6503	SO:0001583	missense	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141290324G>T	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1097G>T	3.37:g.141290324G>T	ENSP00000391677:p.Arg366Leu					RASA2_uc010huq.1_Missense_Mutation_p.R366L|RASA2_uc003eua.1_Missense_Mutation_p.R366L|RASA2_uc011bnc.1_5'UTR	p.R366L	NM_006506	NP_006497	Q15283	RASA2_HUMAN			11	1097	+			366			Ras-GAP.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.1097G>T		.	.	.	.	.	.	.	.	.	.	G	22.8	4.338090	0.81911	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.18016	2.24;2.24	5.53	5.53	0.82687	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.000000	0.64402	D	0.000001	T	0.44561	0.1299	M	0.72479	2.2	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76071	0.971;0.987;0.971	T	0.36480	-0.9746	10	0.87932	D	0	.	19.4661	0.94943	0.0:0.0:1.0:0.0	.	366;366;366	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	L	366	ENSP00000286364:R366L;ENSP00000391677:R366L	ENSP00000286364:R366L	R	+	2	0	RASA2	142773014	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.092000	0.94157	2.590000	0.87494	0.555000	0.69702	CGA		PASS	0.368	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		149	302	149	302	---	---	---	---
U2SURP	23350	broad.mit.edu	37	3	142741338	142741338	+	Splice_Site	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:142741338G>C	ENST00000473835.2	+	11	942		c.e11-1		U2SURP_ENST00000397933.2_Splice_Site|U2SURP_ENST00000493598.2_Splice_Site	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing						RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						CTTTTTAATAGATGAATGAAG	0.318																																						uc003evh.1																			1	Unknown(1)		lung(1)		0						c.e11-1		U2-associated SR140 protein							83.0	80.0	81.0					3																	142741338		1791	4065	5856	SO:0001630	splice_region_variant	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142741338G>C	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.853-1G>C	3.37:g.142741338G>C						SR140_uc003evi.1_Splice_Site|SR140_uc011bnj.1_Splice_Site_p.M285_splice|SR140_uc003evj.1_Splice_Site|SR140_uc003evk.1_Splice_Site_p.M284_splice	p.M285_splice	NM_001080415	NP_001073884	O15042	SR140_HUMAN			11	952	+								A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Splice_Site	SNP	ENST00000473835.2	37	c.853_splice	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289979	0.80914	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000493598	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4415	0.94823	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	U2SURP	144224028	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.476000	0.97823	2.596000	0.87737	0.555000	0.69702	.		PASS	0.318	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415	Intron	25	154	25	154	---	---	---	---
HLTF	6596	broad.mit.edu	37	3	148786065	148786065	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:148786065G>C	ENST00000310053.5	-	8	1145	c.952C>G	c.(952-954)Ctt>Gtt	p.L318V	HLTF_ENST00000494055.1_Missense_Mutation_p.L318V|HLTF_ENST00000465259.1_Missense_Mutation_p.L318V|HLTF_ENST00000392912.2_Missense_Mutation_p.L318V	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	318					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L318V(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCAATAGGAAGAGGTCTGCCA	0.338																																						uc003ewq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(952-954)CTT>GTT		helicase-like transcription factor							155.0	166.0	162.0					3																	148786065		2203	4300	6503	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148786065G>C	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.952C>G	3.37:g.148786065G>C	ENSP00000308944:p.Leu318Val					HLTF_uc003ewr.1_Missense_Mutation_p.L318V|HLTF_uc003ews.1_Missense_Mutation_p.L318V|HLTF_uc010hve.1_Missense_Mutation_p.L318V	p.L318V	NM_139048	NP_620636	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		8	1170	-			318					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.952C>G	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962658	0.74016	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	6.01	5.13	0.70059	DEAD-like helicase (1);	.	.	.	.	D	0.93612	0.7960	L	0.40543	1.245	0.41443	D	0.987935	D;D;D	0.69078	0.973;0.997;0.985	P;D;P	0.64237	0.634;0.923;0.848	D	0.91433	0.5167	9	0.29301	T	0.29	-13.4717	12.964	0.58473	0.0774:0.0:0.9226:0.0	.	318;318;318	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	V	318;318;318;318;315;315	ENSP00000420745:L318V;ENSP00000308944:L318V;ENSP00000376644:L318V;ENSP00000420429:L318V	ENSP00000308944:L318V	L	-	1	0	HLTF	150268755	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.073000	0.50057	2.861000	0.98227	0.650000	0.86243	CTT		PASS	0.338	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			27	396	27	396	---	---	---	---
TMEM14E	645843	broad.mit.edu	37	3	152058442	152058442	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:152058442G>C	ENST00000408960.3	-	1	337	c.252C>G	c.(250-252)ctC>ctG	p.L84L	MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000324210.5_Intron	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN	transmembrane protein 14E	84						integral component of membrane (GO:0016021)		p.L84L(2)		lung(1)	1						AAATGTTCCAGAGTGTTAGAA	0.428																																						uc010hvo.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(250-252)CTC>CTG		transmembrane protein 14E							109.0	97.0	100.0					3																	152058442		1568	3582	5150	SO:0001819	synonymous_variant	645843					integral to membrane		g.chr3:152058442G>C		CCDS43161.1	3q25.1	2011-09-15			ENSG00000221962	ENSG00000221962			34386	protein-coding gene	gene with protein product							Standard	NM_001123228		Approved		uc010hvo.3	Q6UXP3	OTTHUMG00000159652	ENST00000408960.3:c.252C>G	3.37:g.152058442G>C						MBNL1_uc003ezh.2_Intron|MBNL1_uc003ezi.2_Intron|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezm.2_Intron|MBNL1_uc003ezl.2_Intron|MBNL1_uc003ezp.2_Intron|MBNL1_uc003ezn.2_Intron|MBNL1_uc003ezo.2_Intron	p.L84L	NM_001123228	NP_001116700	Q6UXP3	TM14E_HUMAN			1	338	-			84			Helical; (Potential).			Silent	SNP	ENST00000408960.3	37	c.252C>G	CCDS43161.1																																																																																				PASS	0.428	TMEM14E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356703.1	NM_001123228		22	111	22	111	---	---	---	---
MME	4311	broad.mit.edu	37	3	154858076	154858076	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:154858076G>T	ENST00000460393.1	+	10	1072	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W	MME_ENST00000492661.1_Missense_Mutation_p.G318W|MME_ENST00000462745.1_Missense_Mutation_p.G318W|MME_ENST00000493237.1_Missense_Mutation_p.G318W|MME_ENST00000360490.2_Missense_Mutation_p.G318W	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	318					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.G318W(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	AGAGATCAATGGGAAGGTAAG	0.333																																						uc010hvr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(952-954)GGG>TGG		membrane metallo-endopeptidase	Candoxatril(DB00616)						69.0	61.0	64.0					3																	154858076		2203	4299	6502	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154858076G>T		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.952G>T	3.37:g.154858076G>T	ENSP00000418525:p.Gly318Trp					MME_uc003fab.1_Missense_Mutation_p.G318W|MME_uc003fac.1_Missense_Mutation_p.G318W|MME_uc003fad.1_Missense_Mutation_p.G318W|MME_uc003fae.1_Missense_Mutation_p.G318W	p.G318W	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		10	1163	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	318			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.952G>T	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336183	0.24253	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62	5.23	4.34	0.51931	Peptidase M13 (1);	0.413416	0.25526	N	0.030080	T	0.67933	0.2946	N	0.08118	0	0.09310	N	0.999998	D	0.62365	0.991	P	0.46479	0.518	T	0.62789	-0.6780	10	0.72032	D	0.01	-16.1594	5.8271	0.18560	0.1685:0.2259:0.6056:0.0	.	318	P08473	NEP_HUMAN	W	318	ENSP00000420389:G318W;ENSP00000418525:G318W;ENSP00000419653:G318W;ENSP00000417079:G318W;ENSP00000353679:G318W	ENSP00000353679:G318W	G	+	1	0	MME	156340770	0.969000	0.33509	0.925000	0.36789	0.041000	0.13682	0.915000	0.28638	2.596000	0.87737	0.655000	0.94253	GGG		PASS	0.333	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		4	109	4	109	---	---	---	---
SMC4	10051	broad.mit.edu	37	3	160150074	160150074	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:160150074G>T	ENST00000357388.3	+	22	3752	c.3301G>T	c.(3301-3303)Gaa>Taa	p.E1101*	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Nonsense_Mutation_p.E1101*|SMC4_ENST00000469762.1_Nonsense_Mutation_p.E1076*|SMC4_ENST00000462787.1_Nonsense_Mutation_p.E1043*|SMC4_ENST00000360111.2_Nonsense_Mutation_p.E1043*	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1101					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.E1101*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTCACAGGAAGAATTGTATTT	0.318																																						uc003fdh.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)	2						c.(3301-3303)GAA>TAA		SMC4 structural maintenance of chromosomes							49.0	52.0	51.0					3																	160150074		2192	4295	6487	SO:0001587	stop_gained	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160150074G>T	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.3301G>T	3.37:g.160150074G>T	ENSP00000349961:p.Glu1101*					IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Nonsense_Mutation_p.E1076*|SMC4_uc003fdj.2_Nonsense_Mutation_p.E1101*|SMC4_uc010hwd.2_Nonsense_Mutation_p.E1043*|SMC4_uc003fdl.2_Nonsense_Mutation_p.E804*	p.E1101*	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		22	3414	+			1101					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Nonsense_Mutation	SNP	ENST00000357388.3	37	c.3301G>T	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	45	11.364921	0.99551	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	.	.	.	6.06	6.06	0.98353	.	0.044973	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-12.8223	20.613	0.99472	0.0:0.0:1.0:0.0	.	.	.	.	X	1101;1043;1076;1043;1101;695	.	ENSP00000341382:E1101X	E	+	1	0	SMC4	161632768	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.671000	0.98627	2.876000	0.98609	0.655000	0.94253	GAA		PASS	0.318	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			7	198	7	198	---	---	---	---
PPM1L	151742	broad.mit.edu	37	3	160783332	160783332	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:160783332G>C	ENST00000498165.1	+	3	817	c.716G>C	c.(715-717)aGa>aCa	p.R239T	PPM1L_ENST00000464260.1_Missense_Mutation_p.R60T|PPM1L_ENST00000295839.9_Missense_Mutation_p.R112T|PPM1L_ENST00000480117.1_3'UTR	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	239	PP2C-like.				MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.R239T(1)|p.R60T(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TTGAAGGAAAGAAAGAGGATA	0.507																																					Pancreas(86;250 1994 13715 43211)	uc003fdr.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(715-717)AGA>ACA		protein phosphatase 1 (formerly 2C)-like							97.0	90.0	92.0					3																	160783332		2203	4300	6503	SO:0001583	missense	151742				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr3:160783332G>C	AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.716G>C	3.37:g.160783332G>C	ENSP00000417659:p.Arg239Thr					PPM1L_uc003fds.2_Missense_Mutation_p.R60T|PPM1L_uc003fdt.2_Missense_Mutation_p.R112T|PPM1L_uc010hwf.2_RNA	p.R239T	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		3	817	+			239			Cytoplasmic (Potential).|PP2C-like.		Q2M3J2|Q96NM7	Missense_Mutation	SNP	ENST00000498165.1	37	c.716G>C	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266953	0.80469	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	T;T;T	0.19669	2.13;2.13;2.13	5.12	5.12	0.69794	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	M	0.75615	2.305	0.80722	D	1	D;D	0.69078	0.997;0.985	P;D	0.63283	0.9;0.913	T	0.46484	-0.9188	10	0.87932	D	0	.	17.7238	0.88359	0.0:0.0:1.0:0.0	.	112;239	Q5SGD2-3;Q5SGD2	.;PPM1L_HUMAN	T	239;60;112	ENSP00000417659:R239T;ENSP00000420746:R60T;ENSP00000295839:R112T	ENSP00000295839:R112T	R	+	2	0	PPM1L	162266026	1.000000	0.71417	0.731000	0.30826	0.534000	0.34807	9.235000	0.95353	2.681000	0.91329	0.561000	0.74099	AGA		PASS	0.507	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245		14	205	14	205	---	---	---	---
SI	6476	broad.mit.edu	37	3	164754253	164754253	+	Silent	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:164754253A>T	ENST00000264382.3	-	22	2501	c.2439T>A	c.(2437-2439)ccT>ccA	p.P813P		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	813	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.P813P(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TAAGTCCTAGAGGATTCTTAC	0.348										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2437-2439)CCT>CCA		sucrase-isomaltase	Acarbose(DB00284)						90.0	92.0	91.0					3																	164754253		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164754253A>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2439T>A	3.37:g.164754253A>T		HNSCC(35;0.089)					p.P813P	NM_001041	NP_001032	P14410	SUIS_HUMAN			22	2501	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	813			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.2439T>A	CCDS3196.1																																																																																				PASS	0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		61	261	61	261	---	---	---	---
SI	6476	broad.mit.edu	37	3	164755796	164755796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:164755796C>T	ENST00000264382.3	-	21	2380	c.2318G>A	c.(2317-2319)tGg>tAg	p.W773*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	773	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.W773*(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTGTTTCCTCCATGGCCTTTT	0.323										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2317-2319)TGG>TAG		sucrase-isomaltase	Acarbose(DB00284)						121.0	118.0	119.0					3																	164755796		2203	4300	6503	SO:0001587	stop_gained	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164755796C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2318G>A	3.37:g.164755796C>T	ENSP00000264382:p.Trp773*	HNSCC(35;0.089)					p.W773*	NM_001041	NP_001032	P14410	SUIS_HUMAN			21	2380	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	773			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	ENST00000264382.3	37	c.2318G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	37	6.049277	0.97236	.	.	ENSG00000090402	ENST00000264382	.	.	.	5.15	5.15	0.70609	.	0.398663	0.26366	N	0.024798	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	12.6178	0.56586	0.1658:0.8342:0.0:0.0	.	.	.	.	X	773	.	ENSP00000264382:W773X	W	-	2	0	SI	166238490	1.000000	0.71417	0.866000	0.34008	0.283000	0.27025	3.102000	0.50291	2.685000	0.91497	0.650000	0.86243	TGG		PASS	0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		94	162	94	162	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164907126	164907126	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:164907126G>C	ENST00000475390.1	-	2	1936	c.1493C>G	c.(1492-1494)gCa>gGa	p.A498G	SLITRK3_ENST00000241274.3_Missense_Mutation_p.A498G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	498					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.A498G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCTGAAGGCTGCAGGCTGGAT	0.512										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(1492-1494)GCA>GGA		slit and trk like 3 protein precursor							68.0	72.0	71.0					3																	164907126		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907126G>C	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1493C>G	3.37:g.164907126G>C	ENSP00000420091:p.Ala498Gly	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.A498G	p.A498G	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1937	-			498			LRR 10.|Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1493C>G	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	0.054	-1.242332	0.01481	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.47177	0.85;0.85	5.28	5.28	0.74379	.	0.000000	0.37623	N	0.002020	T	0.16642	0.0400	N	0.00413	-1.525	0.41000	D	0.984921	B	0.09022	0.002	B	0.08055	0.003	T	0.39603	-0.9606	10	0.02654	T	1	-13.6318	19.0764	0.93163	0.0:0.0:1.0:0.0	.	498	O94933	SLIK3_HUMAN	G	498	ENSP00000420091:A498G;ENSP00000241274:A498G	ENSP00000241274:A498G	A	-	2	0	SLITRK3	166389820	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.068000	0.64364	2.906000	0.99361	0.655000	0.94253	GCA		PASS	0.512	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		4	189	4	189	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164907647	164907647	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:164907647G>A	ENST00000475390.1	-	2	1415	c.972C>T	c.(970-972)gtC>gtT	p.V324V	SLITRK3_ENST00000241274.3_Silent_p.V324V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	324					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.V324V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ACTTGTATTCGACAGAAGAAG	0.468										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(970-972)GTC>GTT		slit and trk like 3 protein precursor							218.0	226.0	223.0					3																	164907647		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164907647G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.972C>T	3.37:g.164907647G>A		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.V324V	p.V324V	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1416	-			324			Extracellular (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.972C>T	CCDS3197.1																																																																																				PASS	0.468	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		18	674	18	674	---	---	---	---
BCHE	590	broad.mit.edu	37	3	165548367	165548367	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:165548367G>A	ENST00000264381.3	-	2	621	c.455C>T	c.(454-456)tCt>tTt	p.S152F	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	152					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.S152F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AACATGTAAAGATGATGTTCC	0.388																																						uc003fem.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(454-456)TCT>TTT		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						56.0	58.0	57.0					3																	165548367		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548367G>A	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.455C>T	3.37:g.165548367G>A	ENSP00000264381:p.Ser152Phe					BCHE_uc003fen.3_Intron	p.S152F	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	615	-			152					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.455C>T	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.930007	0.52759	.	.	ENSG00000114200	ENST00000264381	T	0.69685	-0.42	5.83	5.83	0.93111	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.85932	0.5812	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87984	0.2745	10	0.87932	D	0	.	19.109	0.93309	0.0:0.0:1.0:0.0	.	152	P06276	CHLE_HUMAN	F	152	ENSP00000264381:S152F	ENSP00000264381:S152F	S	-	2	0	BCHE	167031061	1.000000	0.71417	0.898000	0.35279	0.306000	0.27790	9.731000	0.98807	2.758000	0.94735	0.655000	0.94253	TCT		PASS	0.388	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			18	276	18	276	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	166960328	166960328	+	Silent	SNP	T	T	C	rs377025827		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:166960328T>C	ENST00000392766.2	-	20	2581	c.2241A>G	c.(2239-2241)tcA>tcG	p.S747S	ZBBX_ENST00000455345.2_Silent_p.S786S|ZBBX_ENST00000392764.1_Silent_p.S718S|ZBBX_ENST00000392767.2_Silent_p.S747S|ZBBX_ENST00000307529.5_Silent_p.S786S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	747						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S747S(1)|p.S786S(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CCCTCACATGTGAGGTCTTAA	0.383																																						uc003fep.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(2239-2241)TCA>TCG		zinc finger, B-box domain containing		T	,,	0,3654		0,0,1827	95.0	93.0	93.0		2358,2154,2241	0.2	0.0	3		93	1,8143		0,1,4071	no	coding-synonymous,coding-synonymous,coding-synonymous	ZBBX	NM_001199201.1,NM_001199202.1,NM_024687.3	,,	0,1,5898	CC,CT,TT		0.0123,0.0,0.0085	,,	786/840,718/772,747/801	166960328	1,11797	1827	4072	5899	SO:0001819	synonymous_variant	79740					intracellular	zinc ion binding	g.chr3:166960328T>C	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.2241A>G	3.37:g.166960328T>C						ZBBX_uc011bpc.1_Silent_p.S786S|ZBBX_uc003feq.2_Silent_p.S718S	p.S747S	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			20	2564	-			747					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	c.2241A>G	CCDS3199.2																																																																																				PASS	0.383	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		110	138	110	138	---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168845735	168845735	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:168845735C>T	ENST00000464456.1	-	4	1363	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	MECOM_ENST00000472280.1_Missense_Mutation_p.E55K|MECOM_ENST00000264674.3_Missense_Mutation_p.E119K|MECOM_ENST00000494292.1_Missense_Mutation_p.E243K|MECOM_ENST00000433243.2_Missense_Mutation_p.E55K|MECOM_ENST00000468789.1_Missense_Mutation_p.E55K|MECOM_ENST00000392736.3_Missense_Mutation_p.E55K|MECOM_ENST00000460814.1_Missense_Mutation_p.E55K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E55K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AAGTCCTCTTCAACCATTGAA	0.438																																						uc003ffi.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(163-165)GAA>AAA		MDS1 and EVI1 complex locus isoform b							164.0	157.0	160.0					3																	168845735		2203	4300	6503	SO:0001583	missense	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168845735C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.163G>A	3.37:g.168845735C>T	ENSP00000419770:p.Glu55Lys					MECOM_uc010hwk.1_Missense_Mutation_p.E78K|MECOM_uc003ffj.3_Missense_Mutation_p.E119K|MECOM_uc011bpi.1_Missense_Mutation_p.E55K|MECOM_uc003ffn.3_Missense_Mutation_p.E55K|MECOM_uc003ffk.2_Missense_Mutation_p.E55K|MECOM_uc003ffl.2_Missense_Mutation_p.E215K|MECOM_uc011bpj.1_Missense_Mutation_p.E243K|MECOM_uc011bpk.1_Missense_Mutation_p.E45K|MECOM_uc010hwn.2_Missense_Mutation_p.E243K|MECOM_uc003ffm.1_Missense_Mutation_p.E119K	p.E55K	NM_005241	NP_005232	Q03112	EVI1_HUMAN			4	432	-			55			Interaction with MAPK9, SMAD3 and probably SUV39H1.		Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.163G>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494461	0.26774	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000492586;ENST00000484519;ENST00000460890;ENST00000487503;ENST00000494597;ENST00000475754	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.30714	3.1;3.43;3.39;3.54;3.1;3.43;3.39;3.54;3.23;4.98;5.86;5.86;5.86;1.52	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000013	T	0.23688	0.0573	N	0.19112	0.55	0.42476	D	0.992844	B;B;B;B;B	0.32467	0.372;0.287;0.255;0.241;0.094	B;B;B;B;B	0.30316	0.114;0.053;0.053;0.08;0.024	T	0.04029	-1.0983	10	0.38643	T	0.18	-13.2907	19.2552	0.93943	0.0:1.0:0.0:0.0	.	243;55;243;119;55	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	K	119;55;55;55;243;55;55;55;30;55;55;55;55;55	ENSP00000264674:E119K;ENSP00000376493:E55K;ENSP00000419770:E55K;ENSP00000420048:E55K;ENSP00000417899:E243K;ENSP00000419995:E55K;ENSP00000420466:E55K;ENSP00000394302:E55K;ENSP00000417506:E30K;ENSP00000417299:E55K;ENSP00000417922:E55K;ENSP00000419757:E55K;ENSP00000420072:E55K;ENSP00000418828:E55K	ENSP00000264674:E119K	E	-	1	0	MECOM	170328429	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	4.823000	0.62694	2.550000	0.86006	0.561000	0.74099	GAA		PASS	0.438	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		135	573	135	573	---	---	---	---
ACTRT3	84517	broad.mit.edu	37	3	169482437	169482437	+	IGR	SNP	C	C	T	rs199422282		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:169482437C>T	ENST00000330368.2	-	0	2005				TERC_ENST00000602385.1_lincRNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											TCCCACAGCTCAGGGAATCGC	0.687																																						uc003ffr.1																			0					0								Homo sapiens cDNA clone IMAGE:40002477.							27.0	26.0	26.0					3																	169482437		876	1991	2867	SO:0001628	intergenic_variant	7012	Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic						g.chr3:169482437C>T	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9			3.37:g.169482437C>T								NR_001566						1		-								Q96IS0|Q96NJ0	RNA	SNP	ENST00000330368.2	37	c.412G>A	CCDS3206.1																																																																																				PASS	0.687	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487		5	95	5	95	---	---	---	---
SAMD7	344658	broad.mit.edu	37	3	169644372	169644372	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:169644372C>G	ENST00000428432.2	+	6	711	c.322C>G	c.(322-324)Caa>Gaa	p.Q108E	SAMD7_ENST00000335556.3_Missense_Mutation_p.Q108E	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	108								p.Q108E(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TATTTACCAGCAAAGGAGAAT	0.418																																						uc003fgd.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(322-324)CAA>GAA		sterile alpha motif domain containing 7							43.0	46.0	45.0					3																	169644372		2203	4300	6503	SO:0001583	missense	344658							g.chr3:169644372C>G	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.322C>G	3.37:g.169644372C>G	ENSP00000391299:p.Gln108Glu					SAMD7_uc003fge.2_Missense_Mutation_p.Q108E|SAMD7_uc011bpo.1_Missense_Mutation_p.Q9E	p.Q108E	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		6	589	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		108						Missense_Mutation	SNP	ENST00000428432.2	37	c.322C>G	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336387	0.81801	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.56776	0.44;0.44	6.1	5.21	0.72293	.	0.127864	0.56097	D	0.000034	T	0.58380	0.2118	M	0.66939	2.045	0.40311	D	0.97871	D	0.58268	0.982	P	0.46144	0.505	T	0.66236	-0.5974	10	0.66056	D	0.02	-18.9237	16.2327	0.82356	0.134:0.866:0.0:0.0	.	108	Q7Z3H4	SAMD7_HUMAN	E	108	ENSP00000391299:Q108E;ENSP00000334668:Q108E	ENSP00000334668:Q108E	Q	+	1	0	SAMD7	171127066	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.040000	0.49799	1.527000	0.49086	0.650000	0.86243	CAA		PASS	0.418	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		82	141	82	141	---	---	---	---
PRKCI	5584	broad.mit.edu	37	3	169998155	169998155	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:169998155G>C	ENST00000295797.4	+	9	1151	c.846G>C	c.(844-846)atG>atC	p.M282I		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.M273I(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|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;0.197)		Tamoxifen(DB00675)	TTTATGCAATGAAAGTTGTGA	0.323																																						uc003fgs.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(844-846)ATG>ATC		protein kinase C, iota							82.0	82.0	82.0					3																	169998155		2203	4300	6503	SO:0001583	missense	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:169998155G>C		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.846G>C	3.37:g.169998155G>C	ENSP00000295797:p.Met282Ile						p.M282I	NM_002740	NP_002731	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		9	1084	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		282			Protein kinase.		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	c.846G>C	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875550	0.72180	.	.	ENSG00000163558	ENST00000295797	T	0.19250	2.16	5.75	5.75	0.90469	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	T	0.22126	0.0533	N	0.01529	-0.815	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.52457	-0.8573	9	.	.	.	.	20.3046	0.98621	0.0:0.0:1.0:0.0	.	282	P41743	KPCI_HUMAN	I	282	ENSP00000295797:M282I	.	M	+	3	0	PRKCI	171480849	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.380000	0.97202	2.878000	0.98634	0.650000	0.86243	ATG		PASS	0.323	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		9	246	9	246	---	---	---	---
SLC7A14	57709	broad.mit.edu	37	3	170201274	170201274	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:170201274G>T	ENST00000231706.5	-	6	1259	c.944C>A	c.(943-945)aCc>aAc	p.T315N	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	315					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.T315N(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CGTGTCAATGGTATAATATGG	0.502											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003fgz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(943-945)ACC>AAC		solute carrier family 7 (cationic amino acid							111.0	102.0	105.0					3																	170201274		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170201274G>T	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.944C>A	3.37:g.170201274G>T	ENSP00000231706:p.Thr315Asn		OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1883	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.T315N	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		6	1260	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		315					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.944C>A	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	8.828	0.939199	0.18281	.	.	ENSG00000013293	ENST00000231706	D	0.89746	-2.56	5.9	4.99	0.66335	Amino acid permease domain (1);	0.313995	0.38492	N	0.001666	T	0.76849	0.4045	N	0.12920	0.275	0.20307	N	0.999912	B	0.09022	0.002	B	0.06405	0.002	T	0.59177	-0.7503	10	0.21540	T	0.41	.	8.4489	0.32858	0.0697:0.0:0.6566:0.2737	.	315	Q8TBB6	S7A14_HUMAN	N	315	ENSP00000231706:T315N	ENSP00000231706:T315N	T	-	2	0	SLC7A14	171683968	0.918000	0.31147	0.988000	0.46212	0.823000	0.46562	1.655000	0.37345	2.788000	0.95919	0.655000	0.94253	ACC		PASS	0.502	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		9	442	9	442	---	---	---	---
PLD1	5337	broad.mit.edu	37	3	171321035	171321035	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:171321035T>C	ENST00000351298.4	-	27	3184	c.3058A>G	c.(3058-3060)Ata>Gta	p.I1020V	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000356327.5_Missense_Mutation_p.I982V	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	1020					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.I1020V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GGCTTGTTTATAAAGTCTCTC	0.383																																					NSCLC(149;2174 3517 34058)	uc003fhs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(3058-3060)ATA>GTA		phospholipase D1 isoform a	Choline(DB00122)						99.0	97.0	98.0					3																	171321035		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171321035T>C	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.3058A>G	3.37:g.171321035T>C	ENSP00000342793:p.Ile1020Val					PLD1_uc003fht.2_Missense_Mutation_p.I982V	p.I1020V	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		27	3174	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		1020						Missense_Mutation	SNP	ENST00000351298.4	37	c.3058A>G	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.696976	0.30142	.	.	ENSG00000075651	ENST00000356327;ENST00000351298	T;T	0.05382	3.46;3.45	6.07	6.07	0.98685	.	0.213000	0.49305	D	0.000147	T	0.04227	0.0117	N	0.11698	0.16	0.80722	D	1	B;B	0.15473	0.007;0.013	B;B	0.17098	0.017;0.008	T	0.49753	-0.8906	10	0.13853	T	0.58	-16.5013	12.471	0.55787	0.0:0.0:0.1394:0.8606	.	1005;1020	Q59EA4;Q13393	.;PLD1_HUMAN	V	982;1020	ENSP00000348681:I982V;ENSP00000342793:I1020V	ENSP00000342793:I1020V	I	-	1	0	PLD1	172803729	1.000000	0.71417	0.981000	0.43875	0.756000	0.42949	4.313000	0.59160	2.330000	0.79161	0.528000	0.53228	ATA		PASS	0.383	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		4	246	4	246	---	---	---	---
PLD1	5337	broad.mit.edu	37	3	171394572	171394572	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:171394572G>A	ENST00000351298.4	-	18	2174	c.2048C>T	c.(2047-2049)tCt>tTt	p.S683F	PLD1_ENST00000340989.4_Missense_Mutation_p.S683F|PLD1_ENST00000342215.6_Silent_p.L574L|PLD1_ENST00000356327.5_Missense_Mutation_p.S645F	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	683	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.S683F(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTGGACTGCAGAGGCAATGTC	0.532																																					NSCLC(149;2174 3517 34058)	uc003fhs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(2047-2049)TCT>TTT		phospholipase D1 isoform a	Choline(DB00122)						83.0	73.0	77.0					3																	171394572		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171394572G>A	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2048C>T	3.37:g.171394572G>A	ENSP00000342793:p.Ser683Phe					PLD1_uc003fht.2_Missense_Mutation_p.S645F|PLD1_uc003fhu.3_5'Flank|PLD1_uc003fhv.1_Missense_Mutation_p.S8F	p.S683F	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		18	2164	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		683			Catalytic.			Missense_Mutation	SNP	ENST00000351298.4	37	c.2048C>T	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320675	0.81469	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000340989	T;T;T	0.20881	2.04;2.04;2.04	5.81	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.35566	0.0936	L	0.47190	1.495	0.80722	D	1	D;D;D	0.58970	0.979;0.964;0.984	P;P;P	0.58873	0.847;0.737;0.809	T	0.07121	-1.0789	10	0.54805	T	0.06	-18.0005	14.965	0.71184	0.0683:0.0:0.9317:0.0	.	645;668;683	Q13393-2;Q59EA4;Q13393	.;.;PLD1_HUMAN	F	645;683;683	ENSP00000348681:S645F;ENSP00000342793:S683F;ENSP00000340326:S683F	ENSP00000340326:S683F	S	-	2	0	PLD1	172877266	1.000000	0.71417	0.851000	0.33527	0.765000	0.43378	8.062000	0.89475	1.473000	0.48159	0.557000	0.71058	TCT		PASS	0.532	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		18	142	18	142	---	---	---	---
PLD1	5337	broad.mit.edu	37	3	171442514	171442514	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:171442514C>T	ENST00000351298.4	-	8	856	c.730G>A	c.(730-732)Gga>Aga	p.G244R	PLD1_ENST00000340989.4_Missense_Mutation_p.G244R|PLD1_ENST00000342215.6_Missense_Mutation_p.G244R|PLD1_ENST00000356327.5_Missense_Mutation_p.G244R	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	244	PH.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.G244R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CAGGCTCTTCCCTGACCACAG	0.388																																					NSCLC(149;2174 3517 34058)	uc003fhs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(730-732)GGA>AGA		phospholipase D1 isoform a	Choline(DB00122)						142.0	138.0	139.0					3																	171442514		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171442514C>T	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.730G>A	3.37:g.171442514C>T	ENSP00000342793:p.Gly244Arg					PLD1_uc003fht.2_Missense_Mutation_p.G244R	p.G244R	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		8	846	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		244			PH.			Missense_Mutation	SNP	ENST00000351298.4	37	c.730G>A	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302845	0.60195	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	T;T;T;T	0.32023	3.37;3.37;1.47;3.22	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.150098	0.64402	D	0.000013	T	0.42086	0.1187	L	0.40543	1.245	0.49687	D	0.99981	P;B	0.48407	0.91;0.182	P;B	0.57468	0.821;0.206	T	0.02668	-1.1126	10	0.12766	T	0.61	-22.0949	19.4866	0.95032	0.0:1.0:0.0:0.0	.	267;244	Q59EA4;Q13393	.;PLD1_HUMAN	R	244	ENSP00000348681:G244R;ENSP00000342793:G244R;ENSP00000339936:G244R;ENSP00000340326:G244R	ENSP00000340326:G244R	G	-	1	0	PLD1	172925208	0.997000	0.39634	0.996000	0.52242	0.992000	0.81027	3.522000	0.53480	2.776000	0.95493	0.650000	0.86243	GGA		PASS	0.388	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		23	454	23	454	---	---	---	---
NCEH1	57552	broad.mit.edu	37	3	172353864	172353864	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:172353864G>T	ENST00000475381.1	-	4	684	c.451C>A	c.(451-453)Cca>Aca	p.P151T	NCEH1_ENST00000538775.1_Missense_Mutation_p.P191T|NCEH1_ENST00000543711.1_Missense_Mutation_p.P18T|NCEH1_ENST00000273512.3_Missense_Mutation_p.P183T			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	151					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)	p.P183T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						TAAACCTTTGGAACTAGCCTG	0.368																																						uc011bpx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(571-573)CCA>ACA		arylacetamide deacetylase-like 1 isoform a							86.0	89.0	88.0					3																	172353864		2203	4300	6503	SO:0001583	missense	57552				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity	g.chr3:172353864G>T	AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.451C>A	3.37:g.172353864G>T	ENSP00000418571:p.Pro151Thr					NCEH1_uc003fig.2_Missense_Mutation_p.P183T|NCEH1_uc011bpw.1_Missense_Mutation_p.P18T|NCEH1_uc011bpy.1_Missense_Mutation_p.P18T	p.P191T	NM_001146276	NP_001139748	Q6PIU2	NCEH1_HUMAN			4	709	-			151			Lumenal (Potential).		B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	ENST00000475381.1	37	c.571C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.579141|4.579141	0.86645|0.86645	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000424772|ENST00000475381;ENST00000538775;ENST00000273512;ENST00000543711	.|T;T;T;T	.|0.43688	.|0.94;0.94;0.94;0.94	5.22|5.22	5.22|5.22	0.72569|0.72569	.|Alpha/beta hydrolase fold-3 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72447|0.72447	0.3461|0.3461	M|M	0.90425|0.90425	3.115|3.115	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.997	T|T	0.78489|0.78489	-0.2184|-0.2184	5|10	.|0.87932	.|D	.|0	-14.3597|-14.3597	18.9677|18.9677	0.92702|0.92702	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|191;151	.|F5H7K4;Q6PIU2	.|.;NCEH1_HUMAN	L|T	181|151;191;183;18	.|ENSP00000418571:P151T;ENSP00000442464:P191T;ENSP00000273512:P183T;ENSP00000443227:P18T	.|ENSP00000273512:P183T	F|P	-|-	3|1	2|0	NCEH1|NCEH1	173836558|173836558	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.973000|0.973000	0.67179|0.67179	8.947000|8.947000	0.93000|0.93000	2.714000|2.714000	0.92807|0.92807	0.650000|0.650000	0.86243|0.86243	TTC|CCA		PASS	0.368	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	NM_020792		10	327	10	327	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173996659	173996659	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:173996659C>G	ENST00000457714.1	+	6	1297	c.868C>G	c.(868-870)Caa>Gaa	p.Q290E	NLGN1_ENST00000361589.4_Missense_Mutation_p.Q290E|NLGN1_ENST00000545397.1_Missense_Mutation_p.Q290E|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Missense_Mutation_p.Q330E	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	307					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.Q290E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AGGACTTTTTCAACGAGCAAT	0.353																																						uc003fio.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(868-870)CAA>GAA		neuroligin 1							45.0	47.0	46.0					3																	173996659		2203	4299	6502	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173996659C>G	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.868C>G	3.37:g.173996659C>G	ENSP00000392500:p.Gln290Glu					NLGN1_uc010hww.1_Missense_Mutation_p.Q330E|NLGN1_uc003fip.1_Missense_Mutation_p.Q290E	p.Q290E	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1291	+	Ovarian(172;0.0025)		307			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.868C>G	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189687	0.78789	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.59	5.59	0.84812	.	0.057921	0.64402	D	0.000001	T	0.76062	0.3935	M	0.70595	2.14	0.80722	D	1	P;P	0.49358	0.882;0.923	P;B	0.49922	0.626;0.39	T	0.78417	-0.2212	10	0.72032	D	0.01	.	19.9595	0.97236	0.0:1.0:0.0:0.0	.	330;290	D2X2H5;Q8N2Q7-2	.;.	E	290;290;330;290;330	ENSP00000392500:Q290E;ENSP00000354541:Q290E;ENSP00000410374:Q330E;ENSP00000441108:Q290E;ENSP00000385750:Q330E	ENSP00000354541:Q290E	Q	+	1	0	NLGN1	175479353	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.797000	0.96272	0.563000	0.77884	CAA		PASS	0.353	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		6	221	6	221	---	---	---	---
ZNF639	51193	broad.mit.edu	37	3	179047452	179047452	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:179047452C>G	ENST00000326361.3	+	5	550	c.105C>G	c.(103-105)ttC>ttG	p.F35L	ZNF639_ENST00000484866.1_Missense_Mutation_p.F35L|ZNF639_ENST00000496856.1_Missense_Mutation_p.F35L|ZNF639_ENST00000466663.1_3'UTR	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	35					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.F35L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ATGGAATTTTCTCTGATCATT	0.279																																						uc003fjq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(103-105)TTC>TTG		zinc finger protein 639							113.0	121.0	118.0					3																	179047452		2203	4284	6487	SO:0001583	missense	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179047452C>G	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.105C>G	3.37:g.179047452C>G	ENSP00000325634:p.Phe35Leu					ZNF639_uc003fjr.1_Missense_Mutation_p.F35L	p.F35L	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		4	448	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		35					A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	37	c.105C>G	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175783	0.78564	.	.	ENSG00000121864	ENST00000496856;ENST00000491818;ENST00000481587;ENST00000326361;ENST00000466264;ENST00000484866;ENST00000494234	T;T;T;T	0.06142	3.34;3.34;3.62;3.34	6.13	2.22	0.28083	.	0.000000	0.64402	D	0.000001	T	0.08980	0.0222	N	0.24115	0.695	0.35115	D	0.766468	P	0.52842	0.956	P	0.62184	0.899	T	0.33240	-0.9876	10	0.49607	T	0.09	.	4.6593	0.12634	0.1377:0.2377:0.0:0.6245	.	35	Q9UID6	ZN639_HUMAN	L	35	ENSP00000417740:F35L;ENSP00000325634:F35L;ENSP00000419650:F35L;ENSP00000418766:F35L	ENSP00000325634:F35L	F	+	3	2	ZNF639	180530146	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.520000	0.35899	0.531000	0.28639	-0.313000	0.08912	TTC		PASS	0.279	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		7	636	7	636	---	---	---	---
PEX5L	51555	broad.mit.edu	37	3	179537697	179537697	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:179537697G>C	ENST00000467460.1	-	9	1220	c.890C>G	c.(889-891)tCt>tGt	p.S297C	PEX5L_ENST00000465751.1_Missense_Mutation_p.S273C|PEX5L_ENST00000468741.1_Missense_Mutation_p.S105C|PEX5L_ENST00000472994.1_Missense_Mutation_p.S238C|PEX5L_ENST00000464614.1_Missense_Mutation_p.S189C|PEX5L_ENST00000263962.8_Missense_Mutation_p.S295C|PEX5L_ENST00000485199.1_Missense_Mutation_p.S262C|PEX5L_ENST00000476138.1_Missense_Mutation_p.S254C|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Missense_Mutation_p.S189C	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	297					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.S297C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TTGGTTCTCAGATATCCAGTT	0.438																																						uc003fki.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(889-891)TCT>TGT		peroxisomal biogenesis factor 5-like							248.0	218.0	228.0					3																	179537697		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179537697G>C	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.890C>G	3.37:g.179537697G>C	ENSP00000419975:p.Ser297Cys					PEX5L_uc011bqd.1_Missense_Mutation_p.S254C|PEX5L_uc011bqe.1_Missense_Mutation_p.S105C|PEX5L_uc011bqf.1_Missense_Mutation_p.S189C|PEX5L_uc003fkj.1_Missense_Mutation_p.S262C|PEX5L_uc010hxd.1_Missense_Mutation_p.S295C|PEX5L_uc011bqg.1_Missense_Mutation_p.S273C|PEX5L_uc011bqh.1_Missense_Mutation_p.S238C	p.S297C	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		9	1020	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		297					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.890C>G	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077273	0.76415	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.88741	-2.41;-2.42;-2.4;-2.38;-2.4;-2.4;-2.41;-2.38;-2.4	5.5	5.5	0.81552	.	0.189840	0.47093	D	0.000253	D	0.93488	0.7922	M	0.67397	2.05	0.52501	D	0.999957	D;D;D;D;D;D	0.71674	0.997;0.994;0.998;0.997;0.992;0.995	P;P;D;P;P;P	0.63033	0.667;0.667;0.91;0.871;0.821;0.747	D	0.93870	0.7161	10	0.87932	D	0	-11.9713	19.389	0.94573	0.0:0.0:1.0:0.0	.	238;273;189;295;262;297	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	C	297;295;262;295;189;105;254;185;238;189;273	ENSP00000419975:S297C;ENSP00000263962:S295C;ENSP00000418440:S262C;ENSP00000376420:S189C;ENSP00000418665:S105C;ENSP00000420555:S254C;ENSP00000418054:S238C;ENSP00000417270:S189C;ENSP00000419348:S273C	ENSP00000263962:S295C	S	-	2	0	PEX5L	181020391	1.000000	0.71417	0.946000	0.38457	0.959000	0.62525	7.178000	0.77657	2.593000	0.87608	0.655000	0.94253	TCT		PASS	0.438	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		39	337	39	337	---	---	---	---
TTC14	151613	broad.mit.edu	37	3	180327971	180327971	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:180327971G>C	ENST00000296015.4	+	12	2086	c.1954G>C	c.(1954-1956)Gag>Cag	p.E652Q	TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	652							RNA binding (GO:0003723)	p.E652Q(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAAGGATATAGAGGGAAGAAA	0.393																																						uc003fkk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1954-1956)GAG>CAG		tetratricopeptide repeat domain 14 isoform a							68.0	74.0	72.0					3																	180327971		2202	4298	6500	SO:0001583	missense	151613						RNA binding	g.chr3:180327971G>C	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1954G>C	3.37:g.180327971G>C	ENSP00000296015:p.Glu652Gln					TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron	p.E652Q	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	2086	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		652					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.1954G>C	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841239	0.71488	.	.	ENSG00000163728	ENST00000296015	T	0.25250	1.81	6.04	6.04	0.98038	.	0.436913	0.27586	N	0.018708	T	0.40570	0.1122	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.09314	-1.0680	10	0.72032	D	0.01	-5.3659	16.7984	0.85608	0.0:0.1285:0.8715:0.0	.	652	Q96N46	TTC14_HUMAN	Q	652	ENSP00000296015:E652Q	ENSP00000296015:E652Q	E	+	1	0	TTC14	181810665	1.000000	0.71417	0.932000	0.37286	0.956000	0.61745	6.240000	0.72363	2.873000	0.98535	0.563000	0.77884	GAG		PASS	0.393	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		5	298	5	298	---	---	---	---
MCF2L2	23101	broad.mit.edu	37	3	183013168	183013168	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:183013168C>G	ENST00000328913.3	-	13	1892	c.1595G>C	c.(1594-1596)cGt>cCt	p.R532P	MCF2L2_ENST00000414362.2_Missense_Mutation_p.R532P|MCF2L2_ENST00000447025.2_Missense_Mutation_p.R532P|MCF2L2_ENST00000473233.1_Missense_Mutation_p.R532P|B3GNT5_ENST00000462559.1_Intron	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	532							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R532P(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTGCACTGGACGAGTCTGTTT	0.498																																						uc003fli.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(1594-1596)CGT>CCT		Rho family guanine-nucleotide exchange factor							171.0	147.0	155.0					3																	183013168		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183013168C>G	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1595G>C	3.37:g.183013168C>G	ENSP00000328118:p.Arg532Pro					MCF2L2_uc003flj.1_Missense_Mutation_p.R532P|MCF2L2_uc011bqr.1_RNA|uc003fln.1_Intron|uc003flo.2_5'Flank	p.R532P	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		13	1685	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		532					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.1595G>C	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525388	0.85600	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000437431;ENST00000414362	T;T;T;T	0.07800	4.38;4.4;3.49;3.16	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.36908	0.0984	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.987;0.998	T	0.42932	-0.9422	10	0.87932	D	0	.	18.1577	0.89699	0.0:1.0:0.0:0.0	.	532;532	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	P	532;532;532;68;532	ENSP00000328118:R532P;ENSP00000420070:R532P;ENSP00000388190:R532P;ENSP00000414131:R532P	ENSP00000328118:R532P	R	-	2	0	MCF2L2	184495862	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.918000	0.75788	2.535000	0.85469	0.650000	0.86243	CGT		PASS	0.498	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		19	225	19	225	---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183446552	183446552	+	Missense_Mutation	SNP	G	G	A	rs371729831		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:183446552G>A	ENST00000305135.5	+	7	920	c.725G>A	c.(724-726)cGt>cAt	p.R242H		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	242	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.R242H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CGAGGGTCCCGTAGAGAACCC	0.418																																						uc003fly.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(724-726)CGT>CAT		YEATS domain containing 2		G	HIS/ARG	2,3702		0,2,1850	120.0	121.0	121.0		725	5.5	1.0	3		121	0,8190		0,0,4095	no	missense	YEATS2	NM_018023.4	29	0,2,5945	AA,AG,GG		0.0,0.054,0.0168	probably-damaging	242/1423	183446552	2,11892	1852	4095	5947	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183446552G>A	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.725G>A	3.37:g.183446552G>A	ENSP00000306983:p.Arg242His						p.R242H	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		7	920	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		242			YEATS.		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.725G>A	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	34	5.382983	0.95967	5.4E-4	0.0	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.24908	1.83	5.47	5.47	0.80525	.	0.070420	0.56097	D	0.000032	T	0.37758	0.1015	N	0.17379	0.485	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.32268	-0.9913	10	0.52906	T	0.07	-11.6086	19.3172	0.94220	0.0:0.0:1.0:0.0	.	242	Q9ULM3	YETS2_HUMAN	H	242	ENSP00000306983:R242H	ENSP00000306983:R242H	R	+	2	0	YEATS2	184929246	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.809000	0.99208	2.553000	0.86117	0.563000	0.77884	CGT		PASS	0.418	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		6	315	6	315	---	---	---	---
HTR3D	200909	broad.mit.edu	37	3	183756706	183756706	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:183756706C>G	ENST00000382489.3	+	8	1308	c.1308C>G	c.(1306-1308)ctC>ctG	p.L436L	HTR3D_ENST00000428798.2_Silent_p.L386L|HTR3D_ENST00000453435.1_Silent_p.L215L|HTR3D_ENST00000334128.2_Silent_p.L261L	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	436					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.L261L(1)|p.L436L(1)		large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	TCTTCCGCCTCTACCTGCTCT	0.587																																						uc011bqv.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1306-1308)CTC>CTG		5-hydroxytryptamine receptor 3 subunit D isoform							171.0	157.0	162.0					3																	183756706		2203	4300	6503	SO:0001819	synonymous_variant	200909					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183756706C>G	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.1308C>G	3.37:g.183756706C>G						HTR3D_uc003fmj.2_Silent_p.L261L|HTR3D_uc011bqu.1_Silent_p.L386L|HTR3D_uc010hxp.2_Silent_p.L215L	p.L436L	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		8	1308	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		436			Helical; Name=4; (Potential).		C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Silent	SNP	ENST00000382489.3	37	c.1308C>G	CCDS54685.1																																																																																				PASS	0.587	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		27	373	27	373	---	---	---	---
ECE2	9718	broad.mit.edu	37	3	184008857	184008857	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:184008857C>T	ENST00000402825.3	+	17	2218	c.2218C>T	c.(2218-2220)Cgg>Tgg	p.R740W	ECE2_ENST00000359140.4_Missense_Mutation_p.R593W|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.R622W|ECE2_ENST00000357474.5_Missense_Mutation_p.R668W	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	740	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.R740W(1)|p.R593W(1)|p.R668W(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGGAACCTGCGGCCCTGGTG	0.587																																						uc003fni.3																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(2)	4						c.(2218-2220)CGG>TGG		endothelin converting enzyme 2 isoform A							89.0	95.0	93.0					3																	184008857		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184008857C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2218C>T	3.37:g.184008857C>T	ENSP00000384223:p.Arg740Trp					ECE2_uc011brh.1_Missense_Mutation_p.R593W|ECE2_uc003fnl.3_Missense_Mutation_p.R668W|ECE2_uc003fnm.3_Missense_Mutation_p.R622W|ECE2_uc003fnk.3_Missense_Mutation_p.R593W|ECE2_uc011bri.1_Missense_Mutation_p.R655W|ECE2_uc010hxv.2_3'UTR	p.R740W	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		17	2256	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		740			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.2218C>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785733	0.70337	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75	5.06	4.16	0.48862	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.128088	0.51477	D	0.000095	D	0.96445	0.8840	H	0.95260	3.645	0.58432	D	0.999992	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	0.85130	0.994;0.992;0.911;0.992;0.986;0.997	D	0.96498	0.9369	10	0.49607	T	0.09	-24.1467	13.353	0.60613	0.1591:0.8409:0.0:0.0	.	342;593;622;668;593;740	B4DHU4;B4DKF3;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;ECE2_HUMAN	W	740;593;622;668;614	ENSP00000384223:R740W;ENSP00000352052:R593W;ENSP00000385846:R622W;ENSP00000350066:R668W;ENSP00000398444:R614W	ENSP00000350066:R668W	R	+	1	2	ECE2	185491551	1.000000	0.71417	0.998000	0.56505	0.850000	0.48378	3.175000	0.50855	1.083000	0.41159	0.561000	0.74099	CGG		PASS	0.587	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		114	204	114	204	---	---	---	---
ECE2	9718	broad.mit.edu	37	3	184009925	184009925	+	Missense_Mutation	SNP	C	C	T	rs373409868		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:184009925C>T	ENST00000402825.3	+	19	2551	c.2551C>T	c.(2551-2553)Cgc>Tgc	p.R851C	ECE2_ENST00000359140.4_Missense_Mutation_p.R704C|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.R733C|ECE2_ENST00000357474.5_Missense_Mutation_p.R779C	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	851	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.R779C(1)|p.R704C(1)|p.R851C(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCCCGCTTCCGCGTGCTGGG	0.677																																						uc003fni.3																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(2)	4						c.(2551-2553)CGC>TGC		endothelin converting enzyme 2 isoform A		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	40.0	42.0	42.0		2110,2335,2197,2551	5.4	1.0	3		42	1,8599		0,1,4299	no	missense,missense,missense,missense	ECE2	NM_001037324.2,NM_001100120.1,NM_001100121.1,NM_014693.3	180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	704/737,779/812,733/766,851/884	184009925	1,13005	2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184009925C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2551C>T	3.37:g.184009925C>T	ENSP00000384223:p.Arg851Cys					ECE2_uc003fnl.3_Missense_Mutation_p.R779C|ECE2_uc003fnm.3_Missense_Mutation_p.R733C|ECE2_uc003fnk.3_Missense_Mutation_p.R704C	p.R851C	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		19	2589	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		851			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.2551C>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233361	0.79688	0.0	1.16E-4	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474	D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27	5.38	5.38	0.77491	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98239	0.9417	H	0.99758	4.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98463	1.0597	10	0.87932	D	0	-13.1781	11.6875	0.51494	0.1768:0.8232:0.0:0.0	.	733;779;704;851	O60344-2;O60344-5;O60344-3;O60344	.;.;.;ECE2_HUMAN	C	851;704;733;779	ENSP00000384223:R851C;ENSP00000352052:R704C;ENSP00000385846:R733C;ENSP00000350066:R779C	ENSP00000350066:R779C	R	+	1	0	ECE2	185492619	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.403000	0.34612	2.515000	0.84797	0.491000	0.48974	CGC		PASS	0.677	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		13	267	13	267	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184042076	184042076	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:184042076G>C	ENST00000346169.2	+	17	2831	c.2560G>C	c.(2560-2562)Gac>Cac	p.D854H	EIF4G1_ENST00000411531.1_Missense_Mutation_p.D815H|EIF4G1_ENST00000319274.6_Missense_Mutation_p.D854H|EIF4G1_ENST00000427845.1_Missense_Mutation_p.D768H|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Missense_Mutation_p.D690H|EIF4G1_ENST00000392537.2_Missense_Mutation_p.D767H|EIF4G1_ENST00000352767.3_Missense_Mutation_p.D861H|EIF4G1_ENST00000382330.3_Missense_Mutation_p.D861H|EIF4G1_ENST00000424196.1_Missense_Mutation_p.D861H|EIF4G1_ENST00000435046.2_Missense_Mutation_p.D658H|EIF4G1_ENST00000441154.1_Missense_Mutation_p.D691H|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000414031.1_Missense_Mutation_p.D814H|EIF4G1_ENST00000434061.2_Missense_Mutation_p.D659H|EIF4G1_ENST00000342981.4_Missense_Mutation_p.D855H	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	854	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.D854H(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTTTGAGAAAGACAAAGATGA	0.443																																						uc003fnp.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2560-2562)GAC>CAC		eukaryotic translation initiation factor 4							159.0	150.0	153.0					3																	184042076		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184042076G>C	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2560G>C	3.37:g.184042076G>C	ENSP00000316879:p.Asp854His					EIF4G1_uc003fno.1_Missense_Mutation_p.D795H|EIF4G1_uc010hxw.1_Missense_Mutation_p.D690H|EIF4G1_uc003fnt.2_Missense_Mutation_p.D565H|EIF4G1_uc003fnq.2_Missense_Mutation_p.D767H|EIF4G1_uc003fnr.2_Missense_Mutation_p.D690H|EIF4G1_uc010hxx.2_Missense_Mutation_p.D861H|EIF4G1_uc003fns.2_Missense_Mutation_p.D814H|EIF4G1_uc010hxy.2_Missense_Mutation_p.D861H|EIF4G1_uc003fnv.3_Missense_Mutation_p.D855H|EIF4G1_uc003fnu.3_Missense_Mutation_p.D854H|EIF4G1_uc003fnw.2_Missense_Mutation_p.D861H|EIF4G1_uc003fnx.2_Missense_Mutation_p.D659H|EIF4G1_uc003fny.3_Missense_Mutation_p.D658H|SNORD66_uc003fnz.2_5'Flank	p.D854H	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		17	2758	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		854			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.2560G>C	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608778	0.87258	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94	5.71	5.71	0.89125	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.042620	0.85682	D	0.000000	T	0.48150	0.1484	M	0.69185	2.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.989;0.986;0.994	T	0.23190	-1.0195	10	0.48119	T	0.1	-19.4074	20.2469	0.98398	0.0:0.0:1.0:0.0	.	861;855;854;861	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	H	854;814;767;862;861;795;690;861;768;855;854;861;815;690;691;659;658	ENSP00000316879:D854H;ENSP00000391935:D814H;ENSP00000376320:D767H;ENSP00000413159:D862H;ENSP00000371767:D861H;ENSP00000403269:D795H;ENSP00000317600:D690H;ENSP00000338020:D861H;ENSP00000407682:D768H;ENSP00000343450:D855H;ENSP00000323737:D854H;ENSP00000416255:D861H;ENSP00000395974:D815H;ENSP00000398145:D690H;ENSP00000399858:D691H;ENSP00000411826:D659H;ENSP00000404754:D658H	ENSP00000323737:D854H	D	+	1	0	EIF4G1	185524770	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.823000	0.99369	2.873000	0.98535	0.561000	0.74099	GAC		PASS	0.443	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		14	299	14	299	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184045480	184045480	+	Silent	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:184045480C>A	ENST00000346169.2	+	25	4039	c.3768C>A	c.(3766-3768)ctC>ctA	p.L1256L	EIF4G1_ENST00000411531.1_Silent_p.L1217L|EIF4G1_ENST00000319274.6_Silent_p.L1256L|EIF4G1_ENST00000427845.1_Silent_p.L1170L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Silent_p.L1092L|EIF4G1_ENST00000392537.2_Silent_p.L1169L|EIF4G1_ENST00000352767.3_Silent_p.L1263L|EIF4G1_ENST00000382330.3_Silent_p.L1263L|EIF4G1_ENST00000424196.1_Silent_p.L1263L|EIF4G1_ENST00000435046.2_Silent_p.L1060L|EIF4G1_ENST00000441154.1_Silent_p.L1093L|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000414031.1_Silent_p.L1216L|EIF4G1_ENST00000434061.2_Silent_p.L1061L|EIF4G1_ENST00000342981.4_Silent_p.L1257L	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1256	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.L1256L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCTCCATCTCAATGACATGA	0.567																																						uc003fnp.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(3766-3768)CTC>CTA		eukaryotic translation initiation factor 4							66.0	66.0	66.0					3																	184045480		2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184045480C>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3768C>A	3.37:g.184045480C>A						EIF4G1_uc003fnt.2_Silent_p.L967L|EIF4G1_uc003fnq.2_Silent_p.L1169L|EIF4G1_uc003fnr.2_Silent_p.L1092L|EIF4G1_uc010hxx.2_Silent_p.L1263L|EIF4G1_uc003fns.2_Silent_p.L1216L|EIF4G1_uc010hxy.2_Silent_p.L1263L|EIF4G1_uc003fnv.3_Silent_p.L1257L|EIF4G1_uc003fnu.3_Silent_p.L1256L|EIF4G1_uc003fnw.2_Silent_p.L1263L|EIF4G1_uc003fnx.2_Silent_p.L1061L|EIF4G1_uc003fny.3_Silent_p.L1060L|EIF4G1_uc003foa.2_5'Flank	p.L1256L	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		25	3966	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1256			MI.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.3768C>A	CCDS3259.1																																																																																				PASS	0.567	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		20	244	20	244	---	---	---	---
VPS8	23355	broad.mit.edu	37	3	184587302	184587302	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:184587302A>G	ENST00000437079.3	+	20	1801	c.1630A>G	c.(1630-1632)Att>Gtt	p.I544V	VPS8_ENST00000287546.4_Missense_Mutation_p.I544V|VPS8_ENST00000446204.2_Missense_Mutation_p.I542V|VPS8_ENST00000436792.2_Missense_Mutation_p.I542V	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	544							zinc ion binding (GO:0008270)	p.I544V(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GCGAAAGGCTATTGTTGCAGA	0.393																																						uc003fpb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1624-1626)ATT>GTT		vacuolar protein sorting 8 homolog isoform b							118.0	113.0	115.0					3																	184587302		1852	4085	5937	SO:0001583	missense	23355						zinc ion binding	g.chr3:184587302A>G	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.1630A>G	3.37:g.184587302A>G	ENSP00000397879:p.Ile544Val					VPS8_uc010hyd.1_Missense_Mutation_p.I542V	p.I542V	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		19	1795	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		544					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.1624A>G	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.702313	0.30232	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.17691	2.33;2.33;2.34;2.26	5.46	2.65	0.31530	.	0.192415	0.44688	N	0.000428	T	0.05456	0.0144	N	0.02802	-0.49	0.25330	N	0.989049	P;B	0.34615	0.459;0.0	B;B	0.34824	0.19;0.0	T	0.40289	-0.9571	10	0.02654	T	1	-24.2422	8.9842	0.35983	0.2429:0.0:0.7571:0.0	.	542;542	Q8N3P4-2;Q8N3P4-3	.;.	V	544;544;542;542	ENSP00000287546:I544V;ENSP00000397879:I544V;ENSP00000404704:I542V;ENSP00000405483:I542V	ENSP00000287546:I544V	I	+	1	0	VPS8	186069996	1.000000	0.71417	0.997000	0.53966	0.595000	0.36748	2.561000	0.45905	0.662000	0.31006	-0.242000	0.12053	ATT		PASS	0.393	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		78	134	78	134	---	---	---	---
VPS8	23355	broad.mit.edu	37	3	184648317	184648317	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:184648317G>A	ENST00000437079.3	+	34	3030	c.2859G>A	c.(2857-2859)gaG>gaA	p.E953E	VPS8_ENST00000287546.4_Silent_p.E953E|VPS8_ENST00000446204.2_Silent_p.E861E|VPS8_ENST00000436792.2_Silent_p.E951E|VPS8_ENST00000463687.1_3'UTR	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	953							zinc ion binding (GO:0008270)	p.E953E(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GTGCAGAGGAGAAGCAGTCTG	0.388																																						uc003fpb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2851-2853)GAG>GAA		vacuolar protein sorting 8 homolog isoform b							182.0	173.0	176.0					3																	184648317		1995	4172	6167	SO:0001819	synonymous_variant	23355						zinc ion binding	g.chr3:184648317G>A	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.2859G>A	3.37:g.184648317G>A						VPS8_uc010hyd.1_Silent_p.E861E|VPS8_uc010hye.1_Silent_p.E380E	p.E951E	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		33	3024	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		953					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Silent	SNP	ENST00000437079.3	37	c.2853G>A	CCDS46971.1																																																																																				PASS	0.388	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		5	360	5	360	---	---	---	---
VPS8	23355	broad.mit.edu	37	3	184714182	184714182	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:184714182G>C	ENST00000437079.3	+	44	3900	c.3729G>C	c.(3727-3729)ctG>ctC	p.L1243L	VPS8_ENST00000287546.4_Silent_p.L1243L|VPS8_ENST00000446204.2_Silent_p.L1151L|VPS8_ENST00000436792.2_Silent_p.L1241L	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1243							zinc ion binding (GO:0008270)	p.L1243L(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGTGTAACCTGAGAGCTTCGG	0.413																																						uc003fpb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3721-3723)CTG>CTC		vacuolar protein sorting 8 homolog isoform b							68.0	66.0	66.0					3																	184714182		1871	4104	5975	SO:0001819	synonymous_variant	23355						zinc ion binding	g.chr3:184714182G>C	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3729G>C	3.37:g.184714182G>C						VPS8_uc010hyd.1_Silent_p.L1151L|VPS8_uc010hye.1_Silent_p.L670L	p.L1241L	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		43	3894	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		1243					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Silent	SNP	ENST00000437079.3	37	c.3723G>C	CCDS46971.1																																																																																				PASS	0.413	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		16	165	16	165	---	---	---	---
ETV5	2119	broad.mit.edu	37	3	185766536	185766536	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:185766536G>A	ENST00000306376.5	-	13	1671	c.1425C>T	c.(1423-1425)ctC>ctT	p.L475L	ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000434744.1_Silent_p.L475L|ETV5_ENST00000537818.1_Silent_p.L517L	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	475					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.L475L(2)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CCTCCTCGCTGAGGTGGCACT	0.587			T	"""TMPRSS2, SCL45A3"""	Prostate																																	uc003fpz.2				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	TMPRSS2|SCL45A3		Prostate 		2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)|breast(1)	5						c.(1423-1425)CTC>CTT		ets variant gene 5 (ets-related molecule)							77.0	69.0	72.0					3																	185766536		2203	4300	6503	SO:0001819	synonymous_variant	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185766536G>A	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1425C>T	3.37:g.185766536G>A						ETV5_uc003fpy.2_Silent_p.L517L	p.L475L	NM_004454	NP_004445	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		13	1672	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		475					A6NH46|B7Z7D7|Q6IBN5	Silent	SNP	ENST00000306376.5	37	c.1425C>T	CCDS33906.1																																																																																				PASS	0.587	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		10	139	10	139	---	---	---	---
HRG	3273	broad.mit.edu	37	3	186395356	186395357	+	Missense_Mutation	DNP	CC	CC	GA			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:186395356_186395357CC>GA	ENST00000232003.4	+	7	1342_1343	c.1262_1263CC>GA	c.(1261-1263)cCC>cGA	p.P421R		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	421	His/Pro-rich (HRR).				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.P421R(2)|p.P421P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GACCCACCACCCCATAACCAAG	0.579																																						uc003fqq.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(1261-1263)CCC>CGC|c.(1261-1263)CCC>CCA		histidine-rich glycoprotein precursor																																				SO:0001583	missense	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186395356C>G|g.chr3:186395357C>A		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	Exception_encountered	3.37:g.186395356_186395357delinsGA	ENSP00000232003:p.Pro421Arg						p.P421R|p.P421P	NM_000412	NP_000403	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	7	1285|1286	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		421			His/Pro-rich (HRR).		B9EK35|D3DNU7	Missense_Mutation|Silent	SNP	ENST00000232003.4	37	c.1262C>G|c.1263C>A	CCDS3280.1																																																																																				PASS	0.579	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		7|6	84	6	84	---	---	---	---
KNG1	3827	broad.mit.edu	37	3	186435490	186435490	+	Missense_Mutation	SNP	G	G	C	rs199608267		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:186435490G>C	ENST00000265023.4	+	1	371	c.159G>C	c.(157-159)caG>caC	p.Q53H	KNG1_ENST00000287611.2_Missense_Mutation_p.Q53H|KNG1_ENST00000447445.1_Missense_Mutation_p.Q53H|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	53	Cystatin kininogen-type 1. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.Q53H(2)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		GTAACAACCAGTTTGTATTGT	0.403																																						uc011bsa.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(157-159)CAG>CAC		kininogen 1 isoform 1	Ouabain(DB01092)						101.0	101.0	101.0					3																	186435490		2203	4297	6500	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186435490G>C		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.159G>C	3.37:g.186435490G>C	ENSP00000265023:p.Gln53His					KNG1_uc003fqr.2_Missense_Mutation_p.Q53H	p.Q53H	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	1	371	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		53			Cystatin 1.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.159G>C	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603799	0.28534	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	T;T;T	0.26067	1.76;1.76;1.76	5.13	2.29	0.28610	Proteinase inhibitor I25, cystatin (2);	0.127580	0.35436	N	0.003210	T	0.46795	0.1411	M	0.83483	2.645	0.31795	N	0.629132	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.52682	-0.8543	10	0.52906	T	0.07	-8.9781	5.1995	0.15256	0.176:0.0:0.6624:0.1616	.	53;53	P01042;P01042-2	KNG1_HUMAN;.	H	53;53;53;41	ENSP00000287611:Q53H;ENSP00000265023:Q53H;ENSP00000396025:Q53H	ENSP00000265023:Q53H	Q	+	3	2	KNG1	187918184	1.000000	0.71417	0.994000	0.49952	0.004000	0.04260	0.695000	0.25527	0.252000	0.21531	-0.263000	0.10527	CAG		PASS	0.403	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		21	203	21	203	---	---	---	---
KNG1	3827	broad.mit.edu	37	3	186442879	186442879	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:186442879G>A	ENST00000265023.4	+	4	606	c.394G>A	c.(394-396)Gag>Aag	p.E132K	KNG1_ENST00000287611.2_Missense_Mutation_p.E132K|KNG1_ENST00000447445.1_Missense_Mutation_p.E132K|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	132	Cystatin kininogen-type 1. {ECO:0000255|PROSITE-ProRule:PRU00979}.|O-glycosylated at one site only.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.E132K(2)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TTGTTAAGCCGAGGGCCCTGT	0.532																																						uc011bsa.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(394-396)GAG>AAG		kininogen 1 isoform 1	Ouabain(DB01092)						78.0	73.0	75.0					3																	186442879		2203	4300	6503	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186442879G>A		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.394G>A	3.37:g.186442879G>A	ENSP00000265023:p.Glu132Lys					KNG1_uc003fqr.2_Missense_Mutation_p.E132K	p.E132K	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	4	606	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		132			Cystatin 1.|O-glycosylated at one site only.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.394G>A	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519429	0.27211	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	T;T;T	0.18960	2.3;2.58;2.18	4.92	0.969	0.19686	.	0.685569	0.13560	N	0.378884	T	0.11750	0.0286	L	0.37750	1.13	0.09310	N	1	B;B	0.27166	0.077;0.17	B;B	0.17098	0.017;0.016	T	0.34378	-0.9831	10	0.13853	T	0.58	-4.0154	4.2228	0.10567	0.2629:0.0:0.5745:0.1627	.	132;132	P01042;P01042-2	KNG1_HUMAN;.	K	132;132;132;120	ENSP00000287611:E132K;ENSP00000265023:E132K;ENSP00000396025:E132K	ENSP00000265023:E132K	E	+	1	0	KNG1	187925573	0.004000	0.15560	0.006000	0.13384	0.639000	0.38242	0.712000	0.25779	0.042000	0.15717	-0.254000	0.11334	GAG		PASS	0.532	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		16	129	16	129	---	---	---	---
RTP2	344892	broad.mit.edu	37	3	187419846	187419846	+	Missense_Mutation	SNP	G	G	T	rs201418563		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:187419846G>T	ENST00000358241.1	-	1	499	c.71C>A	c.(70-72)gCg>gAg	p.A24E	RP11-211G3.3_ENST00000449623.1_5'Flank|RP11-211G3.3_ENST00000437407.1_5'Flank	NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	24					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)	p.A24E(1)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CCAGCTGTCCGCTGGCTTTGC	0.582																																						uc003fro.1																			1	Substitution - Missense(1)		lung(1)		0						c.(70-72)GCG>GAG		receptor transporting protein 2							144.0	145.0	144.0					3																	187419846		2203	4300	6503	SO:0001583	missense	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187419846G>T	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.71C>A	3.37:g.187419846G>T	ENSP00000350976:p.Ala24Glu						p.A24E	NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	1	500	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		24			Cytoplasmic (Potential).		Q6NVH4	Missense_Mutation	SNP	ENST00000358241.1	37	c.71C>A	CCDS33911.1	.	.	.	.	.	.	.	.	.	.	G	0.603	-0.828383	0.02734	.	.	ENSG00000198471	ENST00000358241	T	0.13657	2.57	4.61	4.61	0.57282	.	0.402349	0.25106	N	0.033091	T	0.10165	0.0249	N	0.25647	0.755	0.09310	N	1	B	0.33583	0.418	B	0.37015	0.239	T	0.23904	-1.0175	10	0.08179	T	0.78	-1.1229	13.2442	0.60014	0.0:0.0:1.0:0.0	.	24	Q5QGT7	RTP2_HUMAN	E	24	ENSP00000350976:A24E	ENSP00000350976:A24E	A	-	2	0	RTP2	188902540	0.002000	0.14202	0.029000	0.17559	0.151000	0.21798	1.106000	0.31098	2.844000	0.97970	0.650000	0.86243	GCG		PASS	0.582	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		59	558	59	558	---	---	---	---
BCL6	604	broad.mit.edu	37	3	187447462	187447462	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:187447462C>A	ENST00000406870.2	-	5	1097	c.731G>T	c.(730-732)cGg>cTg	p.R244L	BCL6_ENST00000232014.4_Missense_Mutation_p.R244L|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.R244L	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	244					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R244L(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CAAAGTCGGCCGGCTGTACTC	0.567			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	uc003frp.3				Dom	yes		3	3q27	604	T|Mis	B-cell CLL/lymphoma 6			L	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3		NHL|CLL		1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(1)	5						c.(730-732)CGG>CTG		B-cell lymphoma 6 protein isoform 1							50.0	51.0	51.0					3																	187447462		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447462C>A		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.731G>T	3.37:g.187447462C>A	ENSP00000384371:p.Arg244Leu					BCL6_uc011bsf.1_Missense_Mutation_p.R244L|BCL6_uc010hza.2_Missense_Mutation_p.R142L|BCL6_uc003frq.1_Missense_Mutation_p.R244L	p.R244L	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1188	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		244					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.731G>T	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557767	0.45590	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.13657	2.64;2.64;2.57	5.37	5.37	0.77165	.	0.044245	0.85682	D	0.000000	T	0.13713	0.0332	L	0.43152	1.355	0.53005	D	0.999969	P;P	0.38827	0.649;0.649	B;B	0.37550	0.253;0.253	T	0.01114	-1.1447	10	0.72032	D	0.01	.	11.8846	0.52594	0.0:0.9205:0.0:0.0795	.	244;244	B8PSA7;P41182	.;BCL6_HUMAN	L	244	ENSP00000384371:R244L;ENSP00000232014:R244L;ENSP00000413122:R244L	ENSP00000232014:R244L	R	-	2	0	BCL6	188930156	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	5.141000	0.64814	2.700000	0.92200	0.561000	0.74099	CGG		PASS	0.567	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		22	90	22	90	---	---	---	---
TPRG1	285386	broad.mit.edu	37	3	189038526	189038526	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:189038526G>C	ENST00000345063.3	+	6	912	c.745G>C	c.(745-747)Gag>Cag	p.E249Q	TPRG1_ENST00000433971.1_Missense_Mutation_p.E249Q	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	249						cytoplasm (GO:0005737)		p.E249Q(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CATTTTGATTGAGACCTACAC	0.438																																						uc003frv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(745-747)GAG>CAG		tumor protein p63 regulated 1							109.0	99.0	102.0					3																	189038526		2203	4300	6503	SO:0001583	missense	285386							g.chr3:189038526G>C	AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"""family with sequence similarity 79, member B"""	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.745G>C	3.37:g.189038526G>C	ENSP00000341031:p.Glu249Gln					TPRG1_uc003frw.1_Missense_Mutation_p.E249Q	p.E249Q	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)	11	1972	+	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	249						Missense_Mutation	SNP	ENST00000345063.3	37	c.745G>C	CCDS3292.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609934	0.87258	.	.	ENSG00000188001	ENST00000433971;ENST00000345063	.	.	.	5.69	4.82	0.62117	.	0.049177	0.85682	D	0.000000	T	0.57272	0.2042	M	0.76838	2.35	0.53688	D	0.99997	P	0.36086	0.536	B	0.34536	0.185	T	0.58814	-0.7570	8	.	.	.	-18.4775	12.5667	0.56314	0.0807:0.0:0.9192:0.0	.	249	Q6ZUI0	TPRG1_HUMAN	Q	249	.	.	E	+	1	0	TPRG1	190521220	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.197000	0.58413	1.416000	0.47057	0.563000	0.77884	GAG		PASS	0.438	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1	NM_198485		7	227	7	227	---	---	---	---
GP5	2814	broad.mit.edu	37	3	194118280	194118280	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:194118280G>A	ENST00000401815.1	-	1	803	c.732C>T	c.(730-732)ctC>ctT	p.L244L	GP5_ENST00000323007.3_Silent_p.L244L			P40197	GPV_HUMAN	glycoprotein V (platelet)	244					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L244L(2)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TCAAAGAACTGAGGTTTGGGA	0.577																																						uc003ftv.1																			2	Substitution - coding silent(2)		lung(2)	skin(2)|breast(1)	3						c.(730-732)CTC>CTT		glycoprotein V (platelet) precursor							86.0	94.0	91.0					3																	194118280		2203	4300	6503	SO:0001819	synonymous_variant	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118280G>A	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.732C>T	3.37:g.194118280G>A							p.L244L	NM_004488	NP_004479	P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	2	763	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	244			Extracellular (Potential).|LRR 8.		D1MER9	Silent	SNP	ENST00000401815.1	37	c.732C>T	CCDS3307.1																																																																																				PASS	0.577	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		62	419	62	419	---	---	---	---
XXYLT1	152002	broad.mit.edu	37	3	194991428	194991428	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:194991428G>A	ENST00000310380.6	-	1	468	c.360C>T	c.(358-360)gtC>gtT	p.V120V		NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	120						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)	p.V120V(1)									AGCGCAGCGCGACGCGGGCCT	0.682																																						uc003fum.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(358-360)GTC>GTT		hypothetical protein LOC152002							10.0	11.0	11.0					3																	194991428		1841	3969	5810	SO:0001819	synonymous_variant	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194991428G>A	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.360C>T	3.37:g.194991428G>A							p.V120V	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)	1	468	-	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		120					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Silent	SNP	ENST00000310380.6	37	c.360C>T	CCDS43188.1																																																																																				PASS	0.682	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		7	49	7	49	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195489005	195489005	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:195489005G>T	ENST00000346145.4	-	13	1796	c.1757C>A	c.(1756-1758)tCc>tAc	p.S586Y	MUC4_ENST00000475231.1_Missense_Mutation_p.S4770Y|MUC4_ENST00000463781.3_Missense_Mutation_p.S4822Y|MUC4_ENST00000349607.4_Missense_Mutation_p.S535Y	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1579					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S4822Y(1)|p.S4694Y(1)|p.S586Y(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGCTGGCGGAGGCGTGGAG	0.711																																						uc011bto.1																			3	Substitution - Missense(3)		lung(3)		0						c.(14080-14082)TCC>TAC		mucin 4 isoform a							29.0	27.0	27.0					3																	195489005		2200	4297	6497	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195489005G>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.1757C>A	3.37:g.195489005G>T	ENSP00000304207:p.Ser586Tyr					MUC4_uc003fuz.2_Missense_Mutation_p.S420Y|MUC4_uc003fva.2_Missense_Mutation_p.S302Y|MUC4_uc003fvb.2_Missense_Mutation_p.S338Y|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.S338Y|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.S302Y|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.S386Y|MUC4_uc011bti.1_Missense_Mutation_p.S386Y|MUC4_uc011btj.1_Missense_Mutation_p.S563Y|MUC4_uc011btk.1_Missense_Mutation_p.S302Y|MUC4_uc011btl.1_Missense_Mutation_p.S331Y|MUC4_uc011btm.1_Missense_Mutation_p.S511Y|MUC4_uc011btn.1_Missense_Mutation_p.S302Y|MUC4_uc003fvo.2_Missense_Mutation_p.S586Y|MUC4_uc003fvp.2_Missense_Mutation_p.S535Y	p.S4694Y	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	15	14541	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1579			VWFD.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.14081C>A	CCDS3310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|.	8.761|8.761	0.923596|0.923596	0.18056|0.18056	.|.	.|.	ENSG00000145113|ENSG00000145113	ENST00000392409|ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231	.|T;T;T;T	.|0.59906	.|0.23;0.23;0.23;0.23	4.97|4.97	1.75|1.75	0.24633|0.24633	.|.	.|0.608458	.|0.14541	.|N	.|0.313275	.|T	.|0.64516	.|0.2605	M|M	0.82630|0.82630	2.6|2.6	0.09310|0.09310	N|N	1|1	.|D;P;D;P;P;D	.|0.59357	.|0.985;0.948;0.976;0.94;0.94;0.982	.|D;P;P;P;P;P	.|0.63793	.|0.918;0.66;0.646;0.694;0.694;0.788	.|T	.|0.59830	.|-0.7380	.|10	.|0.02654	.|T	.|1	.|-11.6477	3.0204|3.0204	0.06073|0.06073	0.2978:0.2328:0.4693:0.0|0.2978:0.2328:0.4693:0.0	.|.	.|4694;535;586;4822;4770;1527	.|E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.|.;.;.;.;.;.	.|Y	-1|535;586;4822;4770	.|ENSP00000338109:S535Y;ENSP00000304207:S586Y;ENSP00000417498:S4822Y;ENSP00000420243:S4770Y	.|ENSP00000304207:S586Y	.|S	-|-	.|2	.|0	MUC4|MUC4	196974676|196974676	0.000000|0.000000	0.05858|0.05858	0.447000|0.447000	0.26932|0.26932	0.028000|0.028000	0.11728|0.11728	0.705000|0.705000	0.25675|0.25675	1.087000|1.087000	0.41251|0.41251	-0.258000|-0.258000	0.10820|0.10820	.|TCC		PASS	0.711	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		4	22	4	22	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195516771	195516771	+	Silent	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:195516771C>A	ENST00000463781.3	-	2	2139	c.1680G>T	c.(1678-1680)ggG>ggT	p.G560G	MUC4_ENST00000475231.1_Silent_p.G560G|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	565					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.G560G(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGCGCCTGCCCCTGTTGTTT	0.547																																						uc011bto.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1678-1680)GGG>GGT		mucin 4 isoform a							220.0	217.0	218.0					3																	195516771		1952	4118	6070	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195516771C>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1680G>T	3.37:g.195516771C>A						MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Silent_p.G442G	p.G560G	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2140	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	565					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.1680G>T	CCDS54700.1																																																																																				PASS	0.547	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		101	616	101	616	---	---	---	---
DLG1	1739	broad.mit.edu	37	3	196778475	196778475	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr3:196778475C>G	ENST00000419354.1	-	25	2867	c.2581G>C	c.(2581-2583)Gaa>Caa	p.E861Q	DLG1_ENST00000357674.4_Missense_Mutation_p.E850Q|DLG1_ENST00000392382.2_Missense_Mutation_p.E828Q|DLG1_ENST00000448528.2_Missense_Mutation_p.E861Q|DLG1_ENST00000346964.2_Missense_Mutation_p.E883Q|DLG1_ENST00000443183.1_Missense_Mutation_p.E757Q|DLG1_ENST00000452595.1_Missense_Mutation_p.E745Q|DLG1_ENST00000314062.3_Missense_Mutation_p.E810Q|DLG1_ENST00000422288.1_Missense_Mutation_p.E810Q|DLG1_ENST00000450955.1_Missense_Mutation_p.E850Q			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	861	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)	p.E883Q(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		AACTCCTGTTCCAGTTTCATG	0.378																																						uc003fxo.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2581-2583)GAA>CAA		discs, large homolog 1 isoform 1							205.0	187.0	193.0					3																	196778475		2203	4300	6503	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196778475C>G	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.2581G>C	3.37:g.196778475C>G	ENSP00000407531:p.Glu861Gln					DLG1_uc011bub.1_Missense_Mutation_p.E757Q|DLG1_uc011buc.1_Missense_Mutation_p.E745Q|DLG1_uc011bud.1_Missense_Mutation_p.E544Q|DLG1_uc003fxn.3_Missense_Mutation_p.E883Q|DLG1_uc011bue.1_Missense_Mutation_p.E849Q|DLG1_uc010ial.2_Missense_Mutation_p.E861Q	p.E861Q	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	25	2771	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	861			Guanylate kinase-like.		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.2581G>C	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978480	0.92982	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955	T;T;T;T;T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81	5.29	5.29	0.74685	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.58235	0.2108	M	0.88181	2.935	0.80722	D	1	D;D;D;P;D	0.89917	0.995;0.995;1.0;0.934;1.0	P;P;D;P;D	0.79108	0.907;0.893;0.992;0.824;0.986	T	0.62487	-0.6844	10	0.39692	T	0.17	.	17.9141	0.88943	0.0:1.0:0.0:0.0	.	850;745;757;861;883	Q12959-4;E9PG21;E7EWL7;Q12959;Q12959-2	.;.;.;DLG1_HUMAN;.	Q	883;874;850;848;810;861;745;810;861;757;828;850	ENSP00000345731:E883Q;ENSP00000350303:E850Q;ENSP00000321087:E810Q;ENSP00000407531:E861Q;ENSP00000398939:E745Q;ENSP00000413238:E810Q;ENSP00000391732:E861Q;ENSP00000396658:E757Q;ENSP00000376187:E828Q;ENSP00000411278:E850Q	ENSP00000321087:E810Q	E	-	1	0	DLG1	198262872	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.457000	0.83068	0.555000	0.69702	GAA		PASS	0.378	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		5	271	5	271	---	---	---	---
ACOX3	8310	broad.mit.edu	37	4	8394128	8394128	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:8394128G>C	ENST00000356406.5	-	11	1309	c.1232C>G	c.(1231-1233)gCc>gGc	p.A411G	RNA5SP152_ENST00000365184.1_RNA|ACOX3_ENST00000413009.2_Missense_Mutation_p.A411G|ACOX3_ENST00000503233.1_Missense_Mutation_p.A411G	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	411					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.A411G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GGTCCACGAGGCCAGGGGCTT	0.572																																						uc010idk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1231-1233)GCC>GGC		acyl-Coenzyme A oxidase 3 isoform a							143.0	150.0	148.0					4																	8394128		2203	4300	6503	SO:0001583	missense	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8394128G>C	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1232C>G	4.37:g.8394128G>C	ENSP00000348775:p.Ala411Gly					ACOX3_uc003glc.3_Missense_Mutation_p.A411G|ACOX3_uc003gld.3_Missense_Mutation_p.A411G|ACOX3_uc003gle.1_Missense_Mutation_p.A316G	p.A411G	NM_003501	NP_003492	O15254	ACOX3_HUMAN			11	1377	-			411					Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	c.1232C>G	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591197	0.28357	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	D;D;D	0.96830	-4.14;-4.14;-4.14	4.14	3.29	0.37713	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.210903	0.40222	N	0.001148	D	0.92319	0.7563	L	0.38838	1.175	0.43782	D	0.996312	B;B;B	0.20459	0.021;0.036;0.045	B;B;B	0.23852	0.013;0.029;0.049	D	0.87429	0.2387	10	0.25106	T	0.35	-24.368	10.622	0.45484	0.0958:0.0:0.9042:0.0	.	411;411;411	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	G	411	ENSP00000413994:A411G;ENSP00000348775:A411G;ENSP00000421625:A411G	ENSP00000348775:A411G	A	-	2	0	ACOX3	8445028	1.000000	0.71417	1.000000	0.80357	0.415000	0.31203	4.358000	0.59442	0.962000	0.38057	0.655000	0.94253	GCC		PASS	0.572	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			17	381	17	381	---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36093524	36093524	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:36093524G>A	ENST00000303965.4	-	28	4893	c.4404C>T	c.(4402-4404)ctC>ctT	p.L1468L		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1468	PH 5. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.L1468L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGTAAAGAAAGAGAAACCCAT	0.333																																						uc003gsq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(4402-4404)CTC>CTT		ArfGAP with RhoGAP domain, ankyrin repeat and PH							107.0	107.0	107.0					4																	36093524		2202	4300	6502	SO:0001819	synonymous_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36093524G>A	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4404C>T	4.37:g.36093524G>A							p.L1468L	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			28	4742	-			1468			PH 5.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	c.4404C>T	CCDS3441.1																																																																																				PASS	0.333	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		7	123	7	123	---	---	---	---
TBC1D1	23216	broad.mit.edu	37	4	38138813	38138813	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:38138813G>T	ENST00000261439.4	+	20	3719	c.3364G>T	c.(3364-3366)Gag>Tag	p.E1122*	TBC1D1_ENST00000508802.1_Nonsense_Mutation_p.E1113*|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1122					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)	p.E1122*(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCTGAGCAGTGAGAGCAAGCT	0.557																																						uc003gtb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(3364-3366)GAG>TAG		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							68.0	70.0	69.0					4																	38138813		2203	4300	6503	SO:0001587	stop_gained	23216					nucleus	Rab GTPase activator activity	g.chr4:38138813G>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.3364G>T	4.37:g.38138813G>T	ENSP00000261439:p.Glu1122*					TBC1D1_uc011byd.1_Nonsense_Mutation_p.E1113*|TBC1D1_uc010ifd.2_Nonsense_Mutation_p.E909*|TBC1D1_uc003gtd.2_Nonsense_Mutation_p.E134*	p.E1122*	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			20	3707	+			1122					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Nonsense_Mutation	SNP	ENST00000261439.4	37	c.3364G>T	CCDS33972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.559968|10.559968	0.99427|0.99427	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000454732|ENST00000510573	.|.	.|.	.|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.09590|.	T|.	0.72|.	-28.0915|-28.0915	18.8563|18.8563	0.92254|0.92254	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1113;1122;386|809	.|.	ENSP00000261439:E1122X|.	E|X	+|+	1|2	0|2	TBC1D1|TBC1D1	37815208|37815208	1.000000|1.000000	0.71417|0.71417	0.887000|0.887000	0.34795|0.34795	0.674000|0.674000	0.39518|0.39518	8.937000|8.937000	0.92936|0.92936	2.679000|2.679000	0.91253|0.91253	0.650000|0.650000	0.86243|0.86243	GAG|TGA		PASS	0.557	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		35	76	35	76	---	---	---	---
FAM114A1	92689	broad.mit.edu	37	4	38907184	38907184	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:38907184C>G	ENST00000358869.2	+	5	654	c.478C>G	c.(478-480)Cta>Gta	p.L160V	FAM114A1_ENST00000515037.1_5'UTR	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	160						cytoplasm (GO:0005737)		p.L160V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGGAGCCACTCTACGGATTCA	0.443																																						uc003gtn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(478-480)CTA>GTA		hypothetical protein LOC92689							108.0	112.0	111.0					4																	38907184		2203	4300	6503	SO:0001583	missense	92689					cytoplasm		g.chr4:38907184C>G		CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.478C>G	4.37:g.38907184C>G	ENSP00000351740:p.Leu160Val					FAM114A1_uc011byh.1_5'UTR	p.L160V	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN			5	654	+			160					A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	c.478C>G	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689010	0.68271	.	.	ENSG00000197712	ENST00000358869	T	0.52295	0.67	5.46	3.75	0.43078	.	0.000000	0.64402	D	0.000001	T	0.66247	0.2770	M	0.79123	2.44	0.43107	D	0.994803	D	0.76494	0.999	D	0.79784	0.993	T	0.68142	-0.5487	10	0.72032	D	0.01	-7.2701	10.2849	0.43562	0.0:0.8478:0.0:0.1522	.	160	Q8IWE2	NXP20_HUMAN	V	160	ENSP00000351740:L160V	ENSP00000351740:L160V	L	+	1	2	FAM114A1	38583579	0.993000	0.37304	0.987000	0.45799	0.840000	0.47671	2.604000	0.46274	0.699000	0.31761	0.655000	0.94253	CTA		PASS	0.443	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389		68	72	68	72	---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46388187	46388187	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:46388187G>T	ENST00000510861.1	-	3	264	c.91C>A	c.(91-93)Caa>Aaa	p.Q31K	GABRA2_ENST00000515082.1_Missense_Mutation_p.Q31K|GABRA2_ENST00000507460.1_Missense_Mutation_p.Q31K|GABRA2_ENST00000514090.1_Missense_Mutation_p.Q31K|GABRA2_ENST00000507069.1_Missense_Mutation_p.Q31K|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000356504.1_Missense_Mutation_p.Q31K|GABRA2_ENST00000381620.4_Missense_Mutation_p.Q31K|GABRA2_ENST00000540012.1_5'UTR			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	31					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Q31K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCATCTTCTTGGATGTTAGCC	0.358																																						uc003gxc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(91-93)CAA>AAA		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						81.0	74.0	76.0					4																	46388187		2202	4300	6502	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46388187G>T		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.91C>A	4.37:g.46388187G>T	ENSP00000421828:p.Gln31Lys					GABRA2_uc010igc.2_Missense_Mutation_p.Q31K|GABRA2_uc011bzc.1_5'UTR|GABRA2_uc003gxe.2_Missense_Mutation_p.Q31K|GABRA2_uc010igd.1_Missense_Mutation_p.Q31K	p.Q31K	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			2	764	-			31			Extracellular (Probable).		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.91C>A	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	G	6.380	0.438137	0.12104	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961;ENST00000507460	T;T;T;T;T;T;T;T	0.80304	-1.17;-1.17;-1.17;-1.17;-1.29;-1.36;-1.01;-1.01	5.01	5.01	0.66863	.	0.397066	0.26052	N	0.026638	T	0.66257	0.2771	N	0.19112	0.55	0.80722	D	1	P;B;B	0.46512	0.879;0.002;0.0	B;B;B	0.42827	0.399;0.003;0.001	T	0.65911	-0.6053	10	0.06365	T	0.9	.	13.2473	0.60029	0.0:0.1591:0.8409:0.0	.	31;31;31	D6RAA9;G5E9Z6;P47869	.;.;GBRA2_HUMAN	K	31	ENSP00000421828:Q31K;ENSP00000421300:Q31K;ENSP00000371033:Q31K;ENSP00000348897:Q31K;ENSP00000427603:Q31K;ENSP00000423840:Q31K;ENSP00000424362:Q31K;ENSP00000424093:Q31K	ENSP00000348897:Q31K	Q	-	1	0	GABRA2	46082944	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.441000	0.44864	2.598000	0.87819	0.585000	0.79938	CAA		PASS	0.358	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			15	74	15	74	---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48559526	48559526	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:48559526C>G	ENST00000503238.1	-	31	4068	c.4069G>C	c.(4069-4071)Gga>Cga	p.G1357R	FRYL_ENST00000537810.1_Missense_Mutation_p.G1357R|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.G1357R|FRYL_ENST00000507711.1_Missense_Mutation_p.G1357R			O94915	FRYL_HUMAN	FRY-like	1357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.G1357R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGTGGAGATCCCCATCCTTCT	0.418																																						uc003gyh.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(4069-4071)GGA>CGA		furry-like							134.0	135.0	135.0					4																	48559526		1900	4122	6022	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48559526C>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4069G>C	4.37:g.48559526C>G	ENSP00000426064:p.Gly1357Arg					FRYL_uc003gyk.2_Missense_Mutation_p.G1357R|FRYL_uc003gyg.1_Missense_Mutation_p.G53R|FRYL_uc003gyi.1_Missense_Mutation_p.G246R	p.G1357R	NM_015030	NP_055845	O94915	FRYL_HUMAN			34	4674	-			1357					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.4069G>C	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.106736|5.106736	0.94292|0.94292	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000514617|ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	.|T;T;T;T	.|0.58358	.|1.16;1.16;1.16;0.34	5.87|5.87	5.87|5.87	0.94306|0.94306	.|Armadillo-type fold (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.75547|0.75547	0.3864|0.3864	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.999;0.995;1.0;1.0	T|T	0.76719|0.76719	-0.2856|-0.2856	6|10	.|0.72032	.|D	.|0.01	.|.	20.207|20.207	0.98280|0.98280	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1357;188;1357;1357	.|F2Z2S2;Q6ZR29;O94915;F5GX82	.|.;.;FRYL_HUMAN;.	A|R	227|1357	.|ENSP00000426064:G1357R;ENSP00000351113:G1357R;ENSP00000441114:G1357R;ENSP00000421584:G1357R	.|ENSP00000351113:G1357R	G|G	-|-	2|1	0|0	FRYL|FRYL	48254283|48254283	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.873000|0.873000	0.50193|0.50193	7.788000|7.788000	0.85771|0.85771	2.765000|2.765000	0.95021|0.95021	0.650000|0.650000	0.86243|0.86243	GGG|GGA		PASS	0.418	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			23	120	23	120	---	---	---	---
LRRC66	339977	broad.mit.edu	37	4	52861814	52861814	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:52861814G>C	ENST00000343457.3	-	4	1380	c.1374C>G	c.(1372-1374)ttC>ttG	p.F458L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	458						integral component of membrane (GO:0016021)		p.F458L(2)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTGTCACCCAGAAAGGGGTCT	0.562																																						uc003gzi.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1372-1374)TTC>TTG		leucine rich repeat containing 66							80.0	84.0	82.0					4																	52861814		2008	4171	6179	SO:0001583	missense	339977					integral to membrane		g.chr4:52861814G>C	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1374C>G	4.37:g.52861814G>C	ENSP00000341944:p.Phe458Leu						p.F458L	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	1387	-			458						Missense_Mutation	SNP	ENST00000343457.3	37	c.1374C>G	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	1.476	-0.558428	0.03967	.	.	ENSG00000188993	ENST00000343457	T	0.27557	1.66	2.99	0.195	0.15151	.	0.793635	0.10680	N	0.646509	T	0.16685	0.0401	N	0.19112	0.55	0.09310	N	1	B	0.18863	0.031	B	0.12156	0.007	T	0.22730	-1.0208	10	0.41790	T	0.15	0.0814	4.3657	0.11223	0.2318:0.1883:0.5799:0.0	.	458	Q68CR7	LRC66_HUMAN	L	458	ENSP00000341944:F458L	ENSP00000341944:F458L	F	-	3	2	LRRC66	52556571	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.127000	0.15790	-0.000000	0.14550	0.467000	0.42956	TTC		PASS	0.562	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		22	97	22	97	---	---	---	---
USP46	64854	broad.mit.edu	37	4	53497298	53497298	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:53497298G>C	ENST00000441222.3	-	2	234	c.50C>G	c.(49-51)tCt>tGt	p.S17C	USP46_ENST00000508499.1_Missense_Mutation_p.S10C|USP46_ENST00000451218.2_Intron|USP46_ENST00000504078.1_5'UTR	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	17					adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.S17C(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			TTCCAGAGCAGAGGCATTGGT	0.328																																						uc003gzn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(49-51)TCT>TGT		ubiquitin specific peptidase 46 isoform 1							45.0	40.0	42.0					4																	53497298		1815	4076	5891	SO:0001583	missense	64854				behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr4:53497298G>C	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.50C>G	4.37:g.53497298G>C	ENSP00000407818:p.Ser17Cys					USP46_uc003gzm.3_Missense_Mutation_p.S10C|USP46_uc011bzr.1_Missense_Mutation_p.S6C|USP46_uc011bzs.1_5'UTR	p.S17C	NM_022832	NP_073743	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)		2	235	-			17					B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	c.50C>G	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736356	0.89482	.	.	ENSG00000109189	ENST00000441222;ENST00000508499	T;T	0.23754	1.89;1.89	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000014	T	0.49558	0.1564	M	0.63843	1.955	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;P;D	0.66847	0.947;0.886;0.947	T	0.47381	-0.9122	10	0.87932	D	0	-13.3716	18.7115	0.91658	0.0:0.0:1.0:0.0	.	17;17;10	P62068-4;P62068;P62068-3	.;UBP46_HUMAN;.	C	17;10	ENSP00000407818:S17C;ENSP00000423244:S10C	ENSP00000407818:S17C	S	-	2	0	USP46	53192055	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.675000	0.98638	2.729000	0.93468	0.650000	0.86243	TCT		PASS	0.328	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		3	9	3	9	---	---	---	---
SCFD2	152579	broad.mit.edu	37	4	53751992	53751992	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:53751992G>C	ENST00000401642.3	-	8	2017	c.1884C>G	c.(1882-1884)ctC>ctG	p.L628L	SCFD2_ENST00000388940.4_Silent_p.L583L	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	628					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)			p.L628L(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTACCACAAAGAGGATCAGGA	0.512																																						uc003gzu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1882-1884)CTC>CTG		sec1 family domain containing 2							88.0	77.0	80.0					4																	53751992		2203	4300	6503	SO:0001819	synonymous_variant	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:53751992G>C	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1884C>G	4.37:g.53751992G>C						SCFD2_uc010igm.2_Silent_p.L583L	p.L628L	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		8	2018	-			628					Q8N5F3|Q8N8H0|Q96ED3	Silent	SNP	ENST00000401642.3	37	c.1884C>G	CCDS33984.1																																																																																				PASS	0.512	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		13	75	13	75	---	---	---	---
EXOC1	55763	broad.mit.edu	37	4	56744156	56744156	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:56744156G>C	ENST00000381295.2	+	9	1496	c.1148G>C	c.(1147-1149)aGa>aCa	p.R383T	EXOC1_ENST00000349598.6_Missense_Mutation_p.R383T|EXOC1_ENST00000346134.7_Missense_Mutation_p.R383T	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	383					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R383T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					CCATTTCATAGAGATTTGCTC	0.378																																						uc003hbe.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6						c.(1147-1149)AGA>ACA		exocyst complex component 1 isoform 1							147.0	132.0	137.0					4																	56744156		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56744156G>C	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1148G>C	4.37:g.56744156G>C	ENSP00000370695:p.Arg383Thr					EXOC1_uc003hbf.1_Missense_Mutation_p.R383T|EXOC1_uc003hbg.1_Missense_Mutation_p.R383T	p.R383T	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN			9	1306	+	Glioma(25;0.08)|all_neural(26;0.101)		383					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.1148G>C	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027189	0.93518	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.76219	0.3957	M	0.66939	2.045	0.80722	D	1	P;P	0.52316	0.879;0.952	P;P	0.60117	0.5;0.869	T	0.72975	-0.4128	9	0.35671	T	0.21	.	19.7272	0.96168	0.0:0.0:1.0:0.0	.	383;383	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	T	383	.	ENSP00000326514:R383T	R	+	2	0	EXOC1	56438913	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.363000	0.97131	2.673000	0.90976	0.557000	0.71058	AGA		PASS	0.378	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		29	132	29	132	---	---	---	---
CEP135	9662	broad.mit.edu	37	4	56886933	56886933	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:56886933G>A	ENST00000257287.4	+	24	3431	c.3307G>A	c.(3307-3309)Gaa>Aaa	p.E1103K		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1103					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.E1103K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GATCTCAACTGAAAGATACGA	0.333																																						uc003hbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3307-3309)GAA>AAA		centrosome protein 4							124.0	129.0	127.0					4																	56886933		2203	4300	6503	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56886933G>A	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.3307G>A	4.37:g.56886933G>A	ENSP00000257287:p.Glu1103Lys					CEP135_uc003hbj.2_Missense_Mutation_p.E809K	p.E1103K	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			24	3541	+	Glioma(25;0.08)|all_neural(26;0.101)		1103			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.3307G>A	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553185	0.65425	.	.	ENSG00000174799	ENST00000257287	T	0.14391	2.51	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.40570	0.1122	M	0.80183	2.485	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.13442	-1.0509	10	0.15952	T	0.53	.	19.9329	0.97127	0.0:0.0:1.0:0.0	.	1103	Q66GS9	CP135_HUMAN	K	1103	ENSP00000257287:E1103K	ENSP00000257287:E1103K	E	+	1	0	CEP135	56581690	1.000000	0.71417	0.978000	0.43139	0.083000	0.17756	7.702000	0.84576	2.714000	0.92807	0.650000	0.86243	GAA		PASS	0.333	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		50	185	50	185	---	---	---	---
AASDH	132949	broad.mit.edu	37	4	57244467	57244467	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:57244467G>C	ENST00000205214.6	-	4	695	c.515C>G	c.(514-516)tCt>tGt	p.S172C	AASDH_ENST00000513376.1_Missense_Mutation_p.S72C|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000602986.1_Missense_Mutation_p.S19C|AASDH_ENST00000502617.1_Missense_Mutation_p.S172C|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000451613.1_Missense_Mutation_p.S172C	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	172					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.S172C(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GACATGCTCAGAACTTATGCT	0.373																																						uc003hbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(514-516)TCT>TGT		aminoadipate-semialdehyde dehydrogenase							158.0	137.0	145.0					4																	57244467		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57244467G>C	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.515C>G	4.37:g.57244467G>C	ENSP00000205214:p.Ser172Cys					AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.S19C|AASDH_uc003hbo.2_Missense_Mutation_p.S72C|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Missense_Mutation_p.S172C|AASDH_uc003hbp.2_Missense_Mutation_p.S172C	p.S172C	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			4	668	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	172					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.515C>G	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	G	4.354	0.065216	0.08388	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.51071	0.72;0.94;2.78;0.72	5.95	1.06	0.20224	AMP-dependent synthetase/ligase (1);	0.787447	0.12140	N	0.495922	T	0.33177	0.0854	L	0.32530	0.975	0.09310	N	1	B;B;B;B	0.17667	0.023;0.01;0.023;0.016	B;B;B;B	0.17722	0.011;0.006;0.011;0.019	T	0.27872	-1.0061	10	0.56958	D	0.05	-5.3113	5.4552	0.16586	0.108:0.3296:0.4588:0.1035	.	19;172;172;172	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	C	172;72;172;19;172	ENSP00000205214:S172C;ENSP00000423760:S72C;ENSP00000409656:S172C;ENSP00000421171:S172C	ENSP00000205214:S172C	S	-	2	0	AASDH	56939224	0.002000	0.14202	0.009000	0.14445	0.017000	0.09413	0.254000	0.18314	0.357000	0.24183	0.655000	0.94253	TCT		PASS	0.373	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		22	111	22	111	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62812641	62812641	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:62812641G>A	ENST00000514591.1	+	15	2554	c.2225G>A	c.(2224-2226)aGa>aAa	p.R742K	LPHN3_ENST00000511324.1_Missense_Mutation_p.R810K|LPHN3_ENST00000507625.1_Missense_Mutation_p.R810K|LPHN3_ENST00000506720.1_Missense_Mutation_p.R810K|LPHN3_ENST00000545650.1_Missense_Mutation_p.R742K|LPHN3_ENST00000514996.1_Missense_Mutation_p.R742K|LPHN3_ENST00000508693.1_Missense_Mutation_p.R810K|LPHN3_ENST00000507164.1_Missense_Mutation_p.R810K|LPHN3_ENST00000514157.1_Missense_Mutation_p.R742K|LPHN3_ENST00000512091.2_Missense_Mutation_p.R742K|LPHN3_ENST00000508946.1_Missense_Mutation_p.R742K|LPHN3_ENST00000506700.1_Missense_Mutation_p.R742K|LPHN3_ENST00000509896.1_Missense_Mutation_p.R810K|LPHN3_ENST00000504896.1_Missense_Mutation_p.R742K|LPHN3_ENST00000506746.1_Missense_Mutation_p.R810K|LPHN3_ENST00000508078.1_3'UTR			Q9HAR2	LPHN3_HUMAN	latrophilin 3	729					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)	p.R742K(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GGAGAGATCAGAGTGGCCTTT	0.363																																						uc010ihh.2																			3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2224-2226)AGA>AAA		latrophilin 3 precursor							232.0	216.0	221.0					4																	62812641		1863	4110	5973	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62812641G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2225G>A	4.37:g.62812641G>A	ENSP00000422533:p.Arg742Lys					LPHN3_uc003hcq.3_Missense_Mutation_p.R742K|LPHN3_uc003hct.2_Missense_Mutation_p.R135K	p.R742K	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			13	2398	+			729			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2225G>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654652	0.29425	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.10477	2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.87	5.51	4.67	0.58626	Domain of unknown function DUF3497 (1);	0.051460	0.85682	N	0.000000	T	0.12774	0.0310	N	0.16201	0.385	0.35107	D	0.765835	D;D;D	0.63046	0.992;0.992;0.99	D;D;D	0.76071	0.987;0.987;0.979	T	0.07424	-1.0773	10	0.02654	T	1	.	10.6533	0.45661	0.1469:0.0:0.8531:0.0	.	742;729;742	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	K	742;742;810;810;742;742;729;742;810;810;810;742;742;742;810;810;742	ENSP00000423388:R742K;ENSP00000422533:R742K;ENSP00000423787:R810K;ENSP00000425033:R810K;ENSP00000424120:R742K;ENSP00000439831:R742K;ENSP00000421476:R810K;ENSP00000424030:R810K;ENSP00000421372:R810K;ENSP00000425201:R742K;ENSP00000423434:R742K;ENSP00000421627:R742K;ENSP00000420931:R810K;ENSP00000425884:R810K;ENSP00000424258:R742K	ENSP00000280009:R742K	R	+	2	0	LPHN3	62495236	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.001000	0.63946	1.330000	0.45394	0.557000	0.71058	AGA		PASS	0.363	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			7	331	7	331	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66213904	66213904	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:66213904G>C	ENST00000273854.3	-	15	3126	c.2526C>G	c.(2524-2526)atC>atG	p.I842M	EPHA5_ENST00000354839.4_Missense_Mutation_p.I820M|EPHA5_ENST00000432638.2_Missense_Mutation_p.I679M|EPHA5_ENST00000511294.1_Missense_Mutation_p.I843M	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	842	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.I842M(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CAGTCCATCTGATTGGAATTT	0.393										TSP Lung(17;0.13)																												uc003hcy.2																			1	Substitution - Missense(1)		lung(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(2524-2526)ATC>ATG		ephrin receptor EphA5 isoform a precursor							102.0	104.0	103.0					4																	66213904		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66213904G>C	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2526C>G	4.37:g.66213904G>C	ENSP00000273854:p.Ile842Met	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.I774M|EPHA5_uc003hcz.2_Missense_Mutation_p.I820M|EPHA5_uc011cah.1_Missense_Mutation_p.I843M|EPHA5_uc011cai.1_Missense_Mutation_p.I821M|EPHA5_uc003hda.2_Missense_Mutation_p.I843M	p.I842M	NM_004439	NP_004430	P54756	EPHA5_HUMAN			15	2719	-			842			Cytoplasmic (Potential).|Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2526C>G	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130367	0.56721	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	5.86	5.01	0.66863	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000006	D	0.90878	0.7134	M	0.70108	2.13	0.48087	D	0.999582	D;D;D;D	0.89917	0.998;0.999;0.997;1.0	D;D;D;D	0.91635	0.987;0.993;0.978;0.999	D	0.91409	0.5149	10	0.87932	D	0	.	11.3968	0.49847	0.0664:0.0:0.8068:0.1269	.	821;843;820;842	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	M	842;679;820;843	ENSP00000273854:I842M;ENSP00000389208:I679M;ENSP00000346899:I820M;ENSP00000427638:I843M	ENSP00000273854:I842M	I	-	3	3	EPHA5	65896499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.555000	0.45854	1.449000	0.47699	0.650000	0.86243	ATC		PASS	0.393	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		32	131	32	131	---	---	---	---
UBA6	55236	broad.mit.edu	37	4	68527924	68527924	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:68527924C>A	ENST00000322244.5	-	13	1146	c.1087G>T	c.(1087-1089)Gaa>Taa	p.E363*	UBA6_ENST00000420827.2_Nonsense_Mutation_p.E363*	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	363					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)	p.E363*(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TCCAAGGTTTCACTTATAGAT	0.328																																						uc003hdg.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1087-1089)GAA>TAA		ubiquitin-activating enzyme E1-like 2							135.0	136.0	136.0					4																	68527924		2203	4298	6501	SO:0001587	stop_gained	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68527924C>A	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1087G>T	4.37:g.68527924C>A	ENSP00000313454:p.Glu363*					UBA6_uc003hdi.2_Nonsense_Mutation_p.E363*	p.E363*	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			13	1139	-			363					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Nonsense_Mutation	SNP	ENST00000322244.5	37	c.1087G>T	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	C	36	5.621686	0.96660	.	.	ENSG00000033178	ENST00000322244;ENST00000420827	.	.	.	5.92	5.08	0.68730	.	0.447753	0.25648	N	0.029234	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-5.6123	12.4251	0.55542	0.0:0.9218:0.0:0.0782	.	.	.	.	X	363	.	ENSP00000313454:E363X	E	-	1	0	UBA6	68210519	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.814000	0.38972	1.513000	0.48852	0.467000	0.42956	GAA		PASS	0.328	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		25	117	25	117	---	---	---	---
UBA6	55236	broad.mit.edu	37	4	68544165	68544165	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:68544165C>G	ENST00000322244.5	-	5	404	c.345G>C	c.(343-345)aaG>aaC	p.K115N	UBA6_ENST00000420827.2_Missense_Mutation_p.K115N	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	115					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)	p.K115N(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ACCTGTTTCTCTTATTAACAA	0.289																																						uc003hdg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(343-345)AAG>AAC		ubiquitin-activating enzyme E1-like 2							62.0	63.0	63.0					4																	68544165		2203	4298	6501	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68544165C>G	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.345G>C	4.37:g.68544165C>G	ENSP00000313454:p.Lys115Asn					UBA6_uc003hdi.2_Missense_Mutation_p.K115N|UBA6_uc003hdj.2_Missense_Mutation_p.K115N	p.K115N	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			5	397	-			115					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.345G>C	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.474033	0.26423	.	.	ENSG00000033178	ENST00000322244;ENST00000420827	T;T	0.40476	1.03;1.03	5.58	-1.05	0.10036	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	1.049750	0.07375	N	0.886479	T	0.24547	0.0595	N	0.10685	0.025	0.22684	N	0.998859	B;B;B	0.13145	0.002;0.007;0.001	B;B;B	0.12156	0.007;0.005;0.004	T	0.31280	-0.9949	10	0.62326	D	0.03	-7.4591	10.8449	0.46737	0.0:0.368:0.0:0.632	.	115;115;115	A0AVT1-4;A0AVT1-3;A0AVT1	.;.;UBA6_HUMAN	N	115	ENSP00000313454:K115N;ENSP00000399234:K115N	ENSP00000313454:K115N	K	-	3	2	UBA6	68226760	0.011000	0.17503	0.119000	0.21687	0.858000	0.48976	0.057000	0.14279	-0.135000	0.11495	-1.031000	0.02408	AAG		PASS	0.289	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		15	111	15	111	---	---	---	---
UGT2B4	7363	broad.mit.edu	37	4	70350951	70350951	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:70350951G>T	ENST00000305107.6	-	5	1331	c.1285C>A	c.(1285-1287)Ctg>Atg	p.L429M	UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.L293M	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	429					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.L429M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	ACTGTCTTCAGTGCATTGAGT	0.388																																						uc003hek.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1285-1287)CTG>ATG		UDP glucuronosyltransferase 2B4 precursor							194.0	191.0	192.0					4																	70350951		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70350951G>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1285C>A	4.37:g.70350951G>T	ENSP00000305221:p.Leu429Met					UGT2B4_uc011cap.1_Missense_Mutation_p.L293M|UGT2B4_uc003hel.3_Intron	p.L429M	NM_021139	NP_066962	P06133	UD2B4_HUMAN			5	1332	-			429					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.1285C>A	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384574	0.25031	.	.	ENSG00000156096	ENST00000305107;ENST00000381096	T;T	0.67345	-0.26;3.02	1.96	-0.378	0.12497	.	0.496175	0.17222	U	0.182287	T	0.74997	0.3790	M	0.79475	2.455	0.09310	N	1	D;D	0.76494	0.999;0.97	D;P	0.76575	0.988;0.729	T	0.62955	-0.6744	10	0.87932	D	0	.	2.9174	0.05757	0.3675:0.259:0.3734:0.0	.	293;429	A6NCP7;P06133	.;UD2B4_HUMAN	M	429;293	ENSP00000305221:L429M;ENSP00000370486:L293M	ENSP00000305221:L429M	L	-	1	2	UGT2B4	70385540	0.000000	0.05858	0.006000	0.13384	0.007000	0.05969	-2.333000	0.01108	-0.094000	0.12374	0.305000	0.20034	CTG		PASS	0.388	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		18	251	18	251	---	---	---	---
SULT1B1	27284	broad.mit.edu	37	4	70620842	70620842	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:70620842C>T	ENST00000310613.3	-	2	391	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	32					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)	p.E32K(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TGGAACTGTTCAATTTTTTCC	0.403																																						uc003hen.2																			1	Substitution - Missense(1)		lung(1)		0						c.(94-96)GAA>AAA		sulfotransferase family, cytosolic, 1B, member							155.0	151.0	152.0					4																	70620842		2203	4300	6503	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70620842C>T	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.94G>A	4.37:g.70620842C>T	ENSP00000308770:p.Glu32Lys						p.E32K	NM_014465	NP_055280	O43704	ST1B1_HUMAN			2	392	-			32					O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.94G>A	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241219	0.22711	.	.	ENSG00000173597	ENST00000310613;ENST00000510821;ENST00000512870	T;T;T	0.01665	4.7;4.7;4.7	4.97	3.24	0.37175	.	0.239522	0.28989	N	0.013492	T	0.01124	0.0037	N	0.08118	0	0.21740	N	0.999569	B	0.11235	0.004	B	0.08055	0.003	T	0.49542	-0.8929	10	0.22706	T	0.39	.	9.2776	0.37709	0.0:0.8225:0.0:0.1775	.	32	O43704	ST1B1_HUMAN	K	32;32;13	ENSP00000308770:E32K;ENSP00000425464:E32K;ENSP00000427536:E13K	ENSP00000308770:E32K	E	-	1	0	SULT1B1	70655431	0.492000	0.26027	0.017000	0.16124	0.004000	0.04260	1.000000	0.29770	0.633000	0.30452	-0.218000	0.12543	GAA		PASS	0.403	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		7	306	7	306	---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73178122	73178122	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:73178122C>T	ENST00000286657.4	-	13	1843	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	603	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E603K(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGCATTCTTCTGTGTTACAA	0.428																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1807-1809)GAA>AAA		ADAM metallopeptidase with thrombospondin type 1							165.0	143.0	150.0					4																	73178122		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73178122C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1807G>A	4.37:g.73178122C>T	ENSP00000286657:p.Glu603Lys					ADAMTS3_uc003hgl.2_5'Flank	p.E603K	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		13	1844	-			603			TSP type-1 1.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.1807G>A	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157305	0.78114	.	.	ENSG00000156140	ENST00000286657	T	0.52526	0.66	5.91	5.91	0.95273	.	0.060323	0.64402	D	0.000004	T	0.57066	0.2028	L	0.28504	0.86	0.58432	D	0.999993	P	0.49559	0.925	P	0.59012	0.85	T	0.54873	-0.8228	10	0.52906	T	0.07	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	603	O15072	ATS3_HUMAN	K	603	ENSP00000286657:E603K	ENSP00000286657:E603K	E	-	1	0	ADAMTS3	73396986	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	3.763000	0.55257	2.813000	0.96785	0.655000	0.94253	GAA		PASS	0.428	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			24	127	24	127	---	---	---	---
NAAA	27163	broad.mit.edu	37	4	76857356	76857356	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:76857356C>G	ENST00000286733.4	-	3	505	c.404G>C	c.(403-405)aGa>aCa	p.R135T	NAAA_ENST00000507187.2_Missense_Mutation_p.R135T|NAAA_ENST00000505594.1_Missense_Mutation_p.R34T|NAAA_ENST00000507956.1_Missense_Mutation_p.R135T|NAAA_ENST00000399497.3_Missense_Mutation_p.R135T	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	135					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)	p.R135T(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						AATGTGGCCTCTGGAGTCTTG	0.393																																						uc003hjb.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(403-405)AGA>ACA		N-acylethanolamine acid amidase isoform 1							150.0	142.0	144.0					4																	76857356		1859	4111	5970	SO:0001583	missense	27163				lipid metabolic process	lysosome	hydrolase activity	g.chr4:76857356C>G	M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"""N-acylsphingosine amidohydrolase (acid ceramidase)-like"""	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.404G>C	4.37:g.76857356C>G	ENSP00000286733:p.Arg135Thr					NAAA_uc003hja.2_Missense_Mutation_p.R135T|NAAA_uc003hjc.3_Missense_Mutation_p.R135T|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_Missense_Mutation_p.R34T|NAAA_uc010iiz.1_Missense_Mutation_p.R135T	p.R135T	NM_014435	NP_055250	Q02083	NAAA_HUMAN			3	468	-			135					Q5KTF2|Q96EY2|Q9BRA8	Missense_Mutation	SNP	ENST00000286733.4	37	c.404G>C	CCDS43239.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926493	0.34002	.	.	ENSG00000138744	ENST00000399497;ENST00000286733;ENST00000507956;ENST00000505594;ENST00000399490;ENST00000507187	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;1.0	5.9	-4.57	0.03421	.	0.683613	0.15173	N	0.276560	T	0.51346	0.1669	N	0.08118	0	0.22171	N	0.999315	B;B;B	0.15930	0.012;0.015;0.004	B;B;B	0.18871	0.013;0.023;0.022	T	0.38023	-0.9680	10	0.23302	T	0.38	-0.9846	9.4227	0.38561	0.0:0.1829:0.1167:0.7005	.	34;135;135	B4DVL2;D6R9S9;Q02083	.;.;NAAA_HUMAN	T	135;135;135;34;135;135	ENSP00000382420:R135T;ENSP00000286733:R135T;ENSP00000427641:R135T;ENSP00000426977:R34T;ENSP00000423142:R135T	ENSP00000286733:R135T	R	-	2	0	NAAA	77076380	0.270000	0.24152	0.746000	0.31095	0.785000	0.44390	0.138000	0.16016	-0.844000	0.04184	0.650000	0.86243	AGA		PASS	0.393	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362843.4			8	242	8	242	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79188522	79188522	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:79188522G>A	ENST00000325942.6	+	9	1357	c.917G>A	c.(916-918)tGc>tAc	p.C306Y	FRAS1_ENST00000264895.6_Missense_Mutation_p.C306Y|FRAS1_ENST00000264899.6_Missense_Mutation_p.C306Y	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	306	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.C306Y(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTGAGTTCTGCATGTGTGAT	0.552																																						uc003hlb.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(5)	5						c.(916-918)TGC>TAC		Fraser syndrome 1							82.0	88.0	86.0					4																	79188522		2147	4237	6384	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79188522G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.917G>A	4.37:g.79188522G>A	ENSP00000326330:p.Cys306Tyr					FRAS1_uc003hkw.2_Missense_Mutation_p.C306Y|FRAS1_uc003hky.1_Missense_Mutation_p.C10Y|FRAS1_uc003hkz.2_Missense_Mutation_p.C10Y	p.C306Y	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			9	1357	+			306			VWFC 5.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.917G>A	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.90|16.90	3.249779|3.249779	0.59212|0.59212	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000502446|ENST00000325942;ENST00000264895;ENST00000264899;ENST00000534913	.|D;D;D	.|0.92199	.|-2.99;-2.99;-2.99	5.19|5.19	5.19|5.19	0.71726|0.71726	.|von Willebrand factor, type C (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97365|0.97365	0.9138|0.9138	H|H	0.94306|0.94306	3.52|3.52	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.998;1.0;1.0	D|D	0.98310|0.98310	1.0523|1.0523	5|10	.|0.87932	.|D	.|0	.|.	19.1001|19.1001	0.93270|0.93270	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|306;306;306;306	.|E9PHH6;Q86XX4;E7EWM9;A2RRR8	.|.;FRAS1_HUMAN;.;.	T|Y	235|306;306;306;46	.|ENSP00000326330:C306Y;ENSP00000264895:C306Y;ENSP00000264899:C306Y	.|ENSP00000264895:C306Y	A|C	+|+	1|2	0|0	FRAS1|FRAS1	79407546|79407546	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.182000|0.182000	0.23217|0.23217	8.746000|8.746000	0.91604|0.91604	2.565000|2.565000	0.86533|0.86533	0.655000|0.655000	0.94253|0.94253	GCA|TGC		PASS	0.552	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			8	32	8	32	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79366783	79366783	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:79366783G>C	ENST00000325942.6	+	42	6213	c.5773G>C	c.(5773-5775)Gag>Cag	p.E1925Q	FRAS1_ENST00000264895.6_Missense_Mutation_p.E1925Q	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1925					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.E1925Q(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGAAAGCATTGAGCCAACCCA	0.393																																						uc003hlb.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(5)	5						c.(5773-5775)GAG>CAG		Fraser syndrome 1							217.0	214.0	215.0					4																	79366783		1893	4118	6011	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79366783G>C	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.5773G>C	4.37:g.79366783G>C	ENSP00000326330:p.Glu1925Gln					FRAS1_uc003hkw.2_Missense_Mutation_p.E1925Q|FRAS1_uc010ijj.1_Missense_Mutation_p.E345Q	p.E1925Q	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			42	6213	+			1924			CSPG 7.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.5773G>C	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.59|17.59	3.426643|3.426643	0.62733|0.62733	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895|ENST00000510944;ENST00000512123	T;T|.	0.44881|.	0.91;0.91|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.167673|.	0.53938|.	D|.	0.000057|.	T|.	0.77003|.	0.4067|.	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	D;P|.	0.54397|.	0.966;0.671|.	P;B|.	0.48227|.	0.571;0.222|.	T|.	0.73946|.	-0.3822|.	10|.	0.49607|.	T|.	0.09|.	.|.	20.394|20.394	0.98981|0.98981	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1925;1925|.	E9PHH6;A2RRR8|.	.;.|.	Q|S	1925|374;153	ENSP00000326330:E1925Q;ENSP00000264895:E1925Q|.	ENSP00000264895:E1925Q|.	E|X	+|+	1|2	0|2	FRAS1|FRAS1	79585807|79585807	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.902000|4.902000	0.63266|0.63266	2.830000|2.830000	0.97506|0.97506	0.585000|0.585000	0.79938|0.79938	GAG|TGA		PASS	0.393	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			10	376	10	376	---	---	---	---
NAA11	84779	broad.mit.edu	37	4	80246623	80246623	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:80246623A>G	ENST00000286794.4	-	1	581	c.409T>C	c.(409-411)Tac>Cac	p.Y137H	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	137	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)	p.Y137H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCTGCATAGTATTTAGGTTCC	0.493																																						uc003hlt.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(409-411)TAC>CAC		alpha-N-acetyltransferase 1B							68.0	69.0	69.0					4																	80246623		2014	4233	6247	SO:0001583	missense	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80246623A>G		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.409T>C	4.37:g.80246623A>G	ENSP00000286794:p.Tyr137His						p.Y137H	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN			1	549	-			137			N-acetyltransferase.		Q66K19|Q6P479	Missense_Mutation	SNP	ENST00000286794.4	37	c.409T>C	CCDS47084.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.964913	0.53507	.	.	ENSG00000156269	ENST00000286794	T	0.58506	0.33	5.17	5.17	0.71159	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.64402	U	0.000001	D	0.86414	0.5927	H	0.99619	4.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91723	0.5390	10	0.87932	D	0	-21.0831	13.3112	0.60380	1.0:0.0:0.0:0.0	.	137	Q9BSU3	NAA11_HUMAN	H	137	ENSP00000286794:Y137H	ENSP00000286794:Y137H	Y	-	1	0	NAA11	80465647	1.000000	0.71417	0.991000	0.47740	0.053000	0.15095	6.477000	0.73591	2.308000	0.77769	0.533000	0.62120	TAC		PASS	0.493	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			23	81	23	81	---	---	---	---
SEC31A	22872	broad.mit.edu	37	4	83802003	83802003	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:83802003G>C	ENST00000395310.2	-	3	334	c.152C>G	c.(151-153)tCt>tGt	p.S51C	SEC31A_ENST00000500777.2_Missense_Mutation_p.S51C|SEC31A_ENST00000505984.1_Missense_Mutation_p.S51C|SEC31A_ENST00000311785.7_Missense_Mutation_p.S51C|SEC31A_ENST00000505472.1_Missense_Mutation_p.S51C|SEC31A_ENST00000509142.1_Missense_Mutation_p.S51C|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000513858.1_Missense_Mutation_p.S51C|SEC31A_ENST00000326950.5_Missense_Mutation_p.S51C|SEC31A_ENST00000432794.1_Missense_Mutation_p.S51C|SEC31A_ENST00000448323.1_Missense_Mutation_p.S51C|SEC31A_ENST00000508502.1_Missense_Mutation_p.S51C|SEC31A_ENST00000348405.4_Missense_Mutation_p.S51C|SEC31A_ENST00000508479.1_Missense_Mutation_p.S51C|SEC31A_ENST00000355196.2_Missense_Mutation_p.S51C|SEC31A_ENST00000443462.2_Missense_Mutation_p.S46C	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	51					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.S51C(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GGATGGATCAGAGAGGTCTAA	0.333																																						uc003hnf.2																		SEC31A/JAK2(4)|SEC31A/ALK(3)	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8						c.(151-153)TCT>TGT		SEC31 homolog A isoform 1							124.0	127.0	126.0					4																	83802003		2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83802003G>C	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.152C>G	4.37:g.83802003G>C	ENSP00000378721:p.Ser51Cys					SEC31A_uc011ccl.1_Missense_Mutation_p.S51C|SEC31A_uc003hnl.2_Missense_Mutation_p.S51C|SEC31A_uc003hng.2_Missense_Mutation_p.S51C|SEC31A_uc003hnh.2_Missense_Mutation_p.S51C|SEC31A_uc003hni.2_Missense_Mutation_p.S51C|SEC31A_uc003hnj.2_Missense_Mutation_p.S51C|SEC31A_uc011ccm.1_Missense_Mutation_p.S46C|SEC31A_uc011ccn.1_Missense_Mutation_p.S51C|SEC31A_uc003hnk.2_Missense_Mutation_p.S51C|SEC31A_uc003hnm.2_Missense_Mutation_p.S51C|SEC31A_uc003hnn.1_Missense_Mutation_p.S51C|SEC31A_uc003hno.2_Missense_Mutation_p.S51C	p.S51C	NM_001077207	NP_001070675	O94979	SC31A_HUMAN			3	316	-		Hepatocellular(203;0.114)	51					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.152C>G	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085768	0.55861	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000505984;ENST00000508479;ENST00000514326;ENST00000513323;ENST00000503210;ENST00000505434	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68624	1.23;1.1;2.28;2.28;1.16;2.18;2.28;1.23;1.16;1.04;1.1;2.29;2.28;2.24;2.18;-0.34;-0.34	4.41	3.56	0.40772	WD40 repeat-like-containing domain (1);	0.342005	0.32624	N	0.005854	T	0.76378	0.3979	L	0.57536	1.79	0.51482	D	0.99992	D;D;P;P;D;B;D;D;B	0.76494	0.983;0.99;0.874;0.892;0.997;0.228;0.998;0.999;0.129	P;P;P;P;D;B;D;D;B	0.64595	0.827;0.711;0.518;0.619;0.927;0.142;0.927;0.922;0.045	T	0.78909	-0.2018	10	0.72032	D	0.01	-17.0709	13.8007	0.63199	0.0:0.0:0.8457:0.1543	.	46;51;51;51;51;51;51;51;51	B4DIW6;B7ZL00;O94979-5;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979	.;.;.;.;.;.;.;.;SC31A_HUMAN	C	51;51;51;46;51;51;51;51;51;51;51;51;51;51;51;51;51;51;51	ENSP00000337602:S51C;ENSP00000426886:S51C;ENSP00000378721:S51C;ENSP00000408027:S46C;ENSP00000426569:S51C;ENSP00000407944:S51C;ENSP00000400926:S51C;ENSP00000325087:S51C;ENSP00000309070:S51C;ENSP00000421633:S51C;ENSP00000421464:S51C;ENSP00000424635:S51C;ENSP00000347329:S51C;ENSP00000424451:S51C;ENSP00000425999:S51C;ENSP00000425555:S51C;ENSP00000426950:S51C	ENSP00000309070:S51C	S	-	2	0	SEC31A	84021027	1.000000	0.71417	0.641000	0.29422	0.319000	0.28217	9.530000	0.98051	1.067000	0.40740	0.460000	0.39030	TCT		PASS	0.333	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		39	215	39	215	---	---	---	---
HELQ	113510	broad.mit.edu	37	4	84374925	84374925	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:84374925G>C	ENST00000295488.3	-	2	633	c.471C>G	c.(469-471)ctC>ctG	p.L157L	MRPS18C_ENST00000507019.1_5'Flank|MRPS18C_ENST00000295491.4_5'Flank|HELQ_ENST00000440639.2_5'UTR|HELQ_ENST00000510985.1_Silent_p.L157L|MRPS18C_ENST00000507349.1_5'Flank	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	157					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.L157L(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TAGTAATGCTGAGTTTGTTTT	0.398								Other identified genes with known or suspected DNA repair function																														uc003hom.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(469-471)CTC>CTG	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA helicase HEL308							225.0	220.0	222.0					4																	84374925		2203	4300	6503	SO:0001819	synonymous_variant	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84374925G>C	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.471C>G	4.37:g.84374925G>C						HELQ_uc010ikb.2_Silent_p.L157L|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_Silent_p.L51L|HELQ_uc003hoo.1_Silent_p.L120L|HELQ_uc003hop.1_Silent_p.L51L|HELQ_uc003hoq.1_Silent_p.L157L|MRPS18C_uc003hor.3_5'Flank|MRPS18C_uc011ccu.1_5'Flank	p.L157L	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN			2	650	-			157					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	ENST00000295488.3	37	c.471C>G	CCDS3603.1																																																																																				PASS	0.398	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		96	407	96	407	---	---	---	---
PTPN13	5783	broad.mit.edu	37	4	87695598	87695598	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:87695598C>T	ENST00000411767.2	+	33	5485	c.5422C>T	c.(5422-5424)Cag>Tag	p.Q1808*	PTPN13_ENST00000511467.1_Nonsense_Mutation_p.Q1813*|PTPN13_ENST00000316707.6_Nonsense_Mutation_p.Q1617*|PTPN13_ENST00000436978.1_Nonsense_Mutation_p.Q1813*|PTPN13_ENST00000427191.2_Nonsense_Mutation_p.Q1789*			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1808	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.Q1813*(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CAAAGGCAATCAGAGAATTGG	0.393																																						uc003hpz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|breast(1)|kidney(1)	6						c.(5422-5424)CAG>TAG		protein tyrosine phosphatase, non-receptor type							48.0	48.0	48.0					4																	87695598		1850	4098	5948	SO:0001587	stop_gained	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87695598C>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5422C>T	4.37:g.87695598C>T	ENSP00000407249:p.Gln1808*					PTPN13_uc003hpy.2_Nonsense_Mutation_p.Q1813*|PTPN13_uc003hqa.2_Nonsense_Mutation_p.Q1789*|PTPN13_uc003hqb.2_Nonsense_Mutation_p.Q1617*|PTPN13_uc003hqc.1_Nonsense_Mutation_p.Q174*	p.Q1808*	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	33	5902	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1808			PDZ 4.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Nonsense_Mutation	SNP	ENST00000411767.2	37	c.5422C>T	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	49	14.940865	0.99816	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	.	.	.	5.33	4.44	0.53790	.	0.332317	0.21142	N	0.079467	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	12.7652	0.57388	0.0:0.6078:0.3922:0.0	.	.	.	.	X	1789;1813;1617;1808;1813;1757	.	ENSP00000322675:Q1617X	Q	+	1	0	PTPN13	87914622	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	6.507000	0.73717	2.664000	0.90586	0.563000	0.77884	CAG		PASS	0.393	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			7	22	7	22	---	---	---	---
KLHL8	57563	broad.mit.edu	37	4	88116479	88116479	+	Silent	SNP	G	G	C	rs149338950		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:88116479G>C	ENST00000273963.5	-	2	554	c.213C>G	c.(211-213)ctC>ctG	p.L71L	KLHL8_ENST00000498875.2_Silent_p.L71L|KLHL8_ENST00000512111.1_Silent_p.L71L|KLHL8_ENST00000425278.2_Silent_p.L71L|KLHL8_ENST00000545252.1_5'UTR	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	71	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)		p.L71L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ATCTCACCTTGAGTGTGACAT	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18752	0.0		0.0	False		,,,				2504	0.0					uc011cdb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(211-213)CTC>CTG		kelch-like 8		G		4,4402	9.9+/-24.2	0,4,2199	69.0	69.0	69.0		213	-7.5	0.6	4	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous	KLHL8	NM_020803.3		0,4,6499	CC,CG,GG		0.0,0.0908,0.0308		71/621	88116479	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	57563							g.chr4:88116479G>C	AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.213C>G	4.37:g.88116479G>C						KLHL8_uc003hql.1_Silent_p.L71L|KLHL8_uc003hqm.1_Silent_p.L71L|KLHL8_uc003hqn.1_Silent_p.L71L|KLHL8_uc010ikj.1_5'UTR	p.L71L	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	2	598	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	71			BTB.		Q53XA3|Q6N018	Silent	SNP	ENST00000273963.5	37	c.213C>G	CCDS3617.1																																																																																				PASS	0.363	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			15	73	15	73	---	---	---	---
FAM13A	10144	broad.mit.edu	37	4	89668800	89668800	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:89668800G>A	ENST00000264344.5	-	18	2571	c.2364C>T	c.(2362-2364)agC>agT	p.S788S	FAM13A_ENST00000395002.2_Silent_p.S462S|FAM13A_ENST00000503556.1_Silent_p.S448S|FAM13A_ENST00000508369.1_Silent_p.S462S|FAM13A_ENST00000511976.1_Silent_p.S374S|FAM13A_ENST00000513837.1_Silent_p.S434S	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	788					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.S788S(1)|p.S462S(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CCTCAGGGCGGCTGCTTTCCG	0.502																																						uc003hse.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|liver(1)	2						c.(2362-2364)AGC>AGT		family with sequence similarity 13, member A1							151.0	153.0	153.0					4																	89668800		2203	4300	6503	SO:0001819	synonymous_variant	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89668800G>A	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2364C>T	4.37:g.89668800G>A						FAM13A_uc003hsa.1_Silent_p.S259S|FAM13A_uc003hsb.1_Silent_p.S462S|FAM13A_uc003hsd.1_Silent_p.S462S|FAM13A_uc003hsc.1_Silent_p.S448S|FAM13A_uc011cdq.1_Silent_p.S434S|FAM13A_uc003hsf.1_Silent_p.S374S|FAM13A_uc003hsg.1_Silent_p.S259S	p.S788S	NM_014883	NP_055698	O94988	FA13A_HUMAN			18	2572	-			788					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	c.2364C>T	CCDS34029.1																																																																																				PASS	0.502	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			5	278	5	278	---	---	---	---
GPRIN3	285513	broad.mit.edu	37	4	90169059	90169059	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:90169059T>C	ENST00000609438.1	-	2	2721	c.2203A>G	c.(2203-2205)Att>Gtt	p.I735V	GPRIN3_ENST00000333209.4_Missense_Mutation_p.I735V	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	735								p.I735V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCTGAGGAAATGGATCTCCGG	0.483																																						uc003hsm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2203-2205)ATT>GTT		G protein-regulated inducer of neurite outgrowth							105.0	106.0	105.0					4																	90169059		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90169059T>C	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.2203A>G	4.37:g.90169059T>C	ENSP00000476603:p.Ile735Val						p.I735V	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	2722	-		Hepatocellular(203;0.114)	735					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.2203A>G	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	T	12.67	2.007776	0.35415	.	.	ENSG00000185477	ENST00000333209	T	0.21932	1.98	5.04	1.29	0.21616	.	0.000000	0.34386	N	0.004017	T	0.12475	0.0303	N	0.17474	0.49	0.31463	N	0.669306	B	0.24043	0.096	B	0.28139	0.086	T	0.10086	-1.0645	10	0.48119	T	0.1	-4.6351	8.7818	0.34795	0.0:0.2168:0.0:0.7832	.	735	Q6ZVF9	GRIN3_HUMAN	V	735	ENSP00000328672:I735V	ENSP00000328672:I735V	I	-	1	0	GPRIN3	90388082	1.000000	0.71417	0.968000	0.41197	0.096000	0.18686	1.843000	0.39259	0.088000	0.17205	-0.290000	0.09829	ATT		PASS	0.483	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		50	205	50	205	---	---	---	---
CCSER1	401145	broad.mit.edu	37	4	91549249	91549249	+	Missense_Mutation	SNP	A	A	T	rs561753715	byFrequency	TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:91549249A>T	ENST00000509176.1	+	6	2086	c.1798A>T	c.(1798-1800)Agt>Tgt	p.S600C	CCSER1_ENST00000432775.2_Missense_Mutation_p.S600C|CCSER1_ENST00000333691.8_Missense_Mutation_p.S600C	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	600								p.S600C(2)|p.S602C(1)									AATGCCCAACAGTCCATCTGC	0.448																																						uc003hsv.3																			3	Substitution - Missense(3)		lung(3)	large_intestine(1)|ovary(1)	2						c.(1798-1800)AGT>TGT		KIAA1680 protein isoform 1							98.0	98.0	98.0					4																	91549249		1901	4131	6032	SO:0001583	missense	401145							g.chr4:91549249A>T		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1798A>T	4.37:g.91549249A>T	ENSP00000425040:p.Ser600Cys					FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.S600C	p.S600C	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN			6	2138	+			600					Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.1798A>T	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.973928	0.74246	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.48836	1.37;0.8;1.37	5.18	5.18	0.71444	.	0.123819	0.56097	D	0.000038	T	0.65606	0.2707	L	0.58810	1.83	0.38654	D	0.951915	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.71310	-0.4631	10	0.87932	D	0	-18.0051	15.7297	0.77792	1.0:0.0:0.0:0.0	.	600;600	Q9C0I3-2;Q9C0I3	.;F190A_HUMAN	C	600	ENSP00000425040:S600C;ENSP00000389283:S600C;ENSP00000329482:S600C	ENSP00000329482:S600C	S	+	1	0	FAM190A	91768272	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	6.078000	0.71282	2.258000	0.74832	0.528000	0.53228	AGT		PASS	0.448	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		24	104	24	104	---	---	---	---
CCSER1	401145	broad.mit.edu	37	4	91549337	91549337	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:91549337C>T	ENST00000509176.1	+	6	2174	c.1886C>T	c.(1885-1887)aCg>aTg	p.T629M	CCSER1_ENST00000432775.2_Missense_Mutation_p.T629M|CCSER1_ENST00000333691.8_Missense_Mutation_p.T629M	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	629								p.T629M(2)|p.T631M(1)									CAGGACTGCACGGCAGTCAAG	0.443																																						uc003hsv.3																			3	Substitution - Missense(3)		lung(3)	large_intestine(1)|ovary(1)	2						c.(1885-1887)ACG>ATG		KIAA1680 protein isoform 1							83.0	82.0	82.0					4																	91549337		1901	4139	6040	SO:0001583	missense	401145							g.chr4:91549337C>T		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1886C>T	4.37:g.91549337C>T	ENSP00000425040:p.Thr629Met					FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.T629M	p.T629M	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN			6	2226	+			629					Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.1886C>T	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079695	0.76528	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.64260	0.85;-0.09;0.85	5.03	5.03	0.67393	.	0.184991	0.45361	D	0.000363	T	0.78201	0.4246	M	0.62723	1.935	0.39860	D	0.973369	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80732	-0.1251	10	0.87932	D	0	-16.0346	19.2615	0.93970	0.0:1.0:0.0:0.0	.	629;629	Q9C0I3-2;Q9C0I3	.;F190A_HUMAN	M	629	ENSP00000425040:T629M;ENSP00000389283:T629M;ENSP00000329482:T629M	ENSP00000329482:T629M	T	+	2	0	FAM190A	91768360	0.999000	0.42202	0.990000	0.47175	0.934000	0.57294	5.121000	0.64691	2.724000	0.93272	0.650000	0.86243	ACG		PASS	0.443	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		6	113	6	113	---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94006149	94006149	+	Missense_Mutation	SNP	G	G	T	rs78241610		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:94006149G>T	ENST00000282020.4	+	3	506	c.248G>T	c.(247-249)tGt>tTt	p.C83F	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	83					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.C83F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CTTGCAGCCTGTGAACTTATG	0.458																																						uc011cdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(247-249)TGT>TTT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						75.0	60.0	65.0					4																	94006149		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94006149G>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.248G>T	4.37:g.94006149G>T	ENSP00000282020:p.Cys83Phe					GRID2_uc010ikx.2_Missense_Mutation_p.C83F|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_RNA	p.C83F	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	3	506	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	83			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.248G>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369543	0.82463	.	.	ENSG00000152208	ENST00000282020	D	0.84370	-1.84	5.12	5.12	0.69794	Extracellular ligand-binding receptor (1);	0.418746	0.28589	N	0.014806	D	0.90307	0.6968	L	0.46157	1.445	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.81914	0.995;0.995	D	0.91174	0.4971	10	0.87932	D	0	.	18.9145	0.92499	0.0:0.0:1.0:0.0	.	83;24	O43424;B4DYB9	GRID2_HUMAN;.	F	83	ENSP00000282020:C83F	ENSP00000282020:C83F	C	+	2	0	GRID2	94225172	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.553000	0.86117	0.655000	0.94253	TGT		PASS	0.458	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			36	63	36	63	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114276263	114276263	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:114276263G>A	ENST00000357077.4	+	38	6542	c.6489G>A	c.(6487-6489)caG>caA	p.Q2163Q	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.Q2130Q|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2163					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.Q2163Q(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)		AAAAGGCACAGCTTCACTTAG	0.443																																						uc003ibe.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(6487-6489)CAG>CAA		ankyrin 2 isoform 1							124.0	116.0	118.0					4																	114276263		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114276263G>A	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.6489G>A	4.37:g.114276263G>A						ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Silent_p.Q2178Q	p.Q2163Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	6589	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2130					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.6489G>A	CCDS3702.1																																																																																				PASS	0.443	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		53	65	53	65	---	---	---	---
NDST3	9348	broad.mit.edu	37	4	119035982	119035982	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:119035982G>C	ENST00000296499.5	+	4	1494	c.1091G>C	c.(1090-1092)gGa>gCa	p.G364A	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	364	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.G364A(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GAAGATGAAGGAGATGACTGT	0.423																																						uc003ibx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1090-1092)GGA>GCA		N-deacetylase/N-sulfotransferase (heparan							164.0	151.0	155.0					4																	119035982		2203	4300	6503	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119035982G>C	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1091G>C	4.37:g.119035982G>C	ENSP00000296499:p.Gly364Ala					NDST3_uc011cgf.1_Intron	p.G364A	NM_004784	NP_004775	O95803	NDST3_HUMAN			4	1494	+			364			Lumenal (Potential).|Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.1091G>C	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987020	0.93106	.	.	ENSG00000164100	ENST00000296499	T	0.49432	0.78	5.57	5.57	0.84162	.	0.098150	0.64402	D	0.000001	T	0.68897	0.3051	M	0.75264	2.295	0.80722	D	1	D	0.56521	0.976	D	0.63192	0.912	T	0.69888	-0.5023	10	0.59425	D	0.04	.	19.9278	0.97110	0.0:0.0:1.0:0.0	.	364	O95803	NDST3_HUMAN	A	364	ENSP00000296499:G364A	ENSP00000296499:G364A	G	+	2	0	NDST3	119255430	1.000000	0.71417	0.994000	0.49952	0.890000	0.51754	9.695000	0.98691	2.770000	0.95276	0.650000	0.86243	GGA		PASS	0.423	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		8	119	8	119	---	---	---	---
PRSS12	8492	broad.mit.edu	37	4	119203131	119203131	+	Nonsense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:119203131G>C	ENST00000296498.3	-	13	2870	c.2588C>G	c.(2587-2589)tCa>tGa	p.S863*	PRSS12_ENST00000510903.1_5'Flank|SNHG8_ENST00000384096.1_lincRNA	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	863	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S863*(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TACAAAGGCTGAGACTTTGGT	0.458																																						uc003ica.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(2587-2589)TCA>TGA		neurotrypsin precursor							98.0	101.0	100.0					4																	119203131		2203	4300	6503	SO:0001587	stop_gained	8492					membrane	scavenger receptor activity	g.chr4:119203131G>C	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2588C>G	4.37:g.119203131G>C	ENSP00000296498:p.Ser863*						p.S863*	NM_003619	NP_003610	P56730	NETR_HUMAN			13	2635	-			863			Peptidase S1.		Q9UP16	Nonsense_Mutation	SNP	ENST00000296498.3	37	c.2588C>G	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	G	42	9.569539	0.99207	.	.	ENSG00000164099	ENST00000296498	.	.	.	6.17	6.17	0.99709	.	0.059635	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	.	.	.	X	863	.	ENSP00000296498:S863X	S	-	2	0	PRSS12	119422579	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.179000	0.71974	2.941000	0.99782	0.655000	0.94253	TCA		PASS	0.458	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			58	89	58	89	---	---	---	---
NDNF	79625	broad.mit.edu	37	4	121958117	121958117	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:121958117C>T	ENST00000379692.4	-	4	1535	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	337					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)	p.E337K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TGTTTGGCTTCTTCCTTGGTC	0.438																																						uc003idq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1009-1011)GAA>AAA		hypothetical protein LOC79625 precursor							157.0	130.0	139.0					4																	121958117		2203	4300	6503	SO:0001583	missense	79625							g.chr4:121958117C>T	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.1009G>A	4.37:g.121958117C>T	ENSP00000369014:p.Glu337Lys						p.E337K	NM_024574	NP_078850	Q8TB73	CD031_HUMAN			4	1536	-			337					A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.1009G>A	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788523	0.70337	.	.	ENSG00000173376	ENST00000379692	T	0.55052	0.54	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	L	0.56769	1.78	0.80722	D	1	P	0.43788	0.817	B	0.42882	0.401	T	0.60429	-0.7265	10	0.62326	D	0.03	-32.5338	20.2441	0.98394	0.0:1.0:0.0:0.0	.	337	Q8TB73	NDNF_HUMAN	K	337	ENSP00000369014:E337K	ENSP00000369014:E337K	E	-	1	0	NDNF	122177567	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.811000	0.86092	2.774000	0.95407	0.655000	0.94253	GAA		PASS	0.438	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		91	129	91	129	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126371212	126371212	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:126371212G>T	ENST00000394329.3	+	9	9054	c.9041G>T	c.(9040-9042)gGa>gTa	p.G3014V	FAT4_ENST00000335110.5_Missense_Mutation_p.G1312V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3014	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G3014V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAAGATTTTGGACTGAATTCA	0.348																																						uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(9040-9042)GGA>GTA		FAT tumor suppressor homolog 4 precursor							61.0	64.0	63.0					4																	126371212		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371212G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9041G>T	4.37:g.126371212G>T	ENSP00000377862:p.Gly3014Val					FAT4_uc011cgp.1_Missense_Mutation_p.G1312V|FAT4_uc003ifi.1_Missense_Mutation_p.G492V	p.G3014V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	9041	+			3014			Extracellular (Potential).|Cadherin 29.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.9041G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551257	0.65311	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.67523	-0.27;1.61	5.81	5.81	0.92471	Cadherin (4);Cadherin-like (1);	0.000000	0.34025	U	0.004328	D	0.89567	0.6752	H	0.98111	4.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;1.0;1.0	D	0.92776	0.6236	10	0.87932	D	0	.	20.0825	0.97783	0.0:0.0:1.0:0.0	.	1312;3014;3014	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	3014;1312	ENSP00000377862:G3014V;ENSP00000335169:G1312V	ENSP00000335169:G1312V	G	+	2	0	FAT4	126590662	1.000000	0.71417	0.968000	0.41197	0.956000	0.61745	7.868000	0.87116	2.746000	0.94184	0.655000	0.94253	GGA		PASS	0.348	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		51	109	51	109	---	---	---	---
NAA15	80155	broad.mit.edu	37	4	140291423	140291423	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:140291423G>A	ENST00000296543.5	+	15	2135	c.1812G>A	c.(1810-1812)aaG>aaA	p.K604K	NAA15_ENST00000398947.1_Silent_p.K604K	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	604	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)	p.K604K(1)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAGCTCAAAAGAAAGCCCAGA	0.343																																						uc003ihu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1810-1812)AAG>AAA		NMDA receptor regulated 1							40.0	37.0	38.0					4																	140291423		1813	4073	5886	SO:0001819	synonymous_variant	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140291423G>A	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1812G>A	4.37:g.140291423G>A							p.K604K	NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN			15	2068	+			604					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Silent	SNP	ENST00000296543.5	37	c.1812G>A	CCDS43270.1																																																																																				PASS	0.343	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		3	26	3	26	---	---	---	---
INPP4B	8821	broad.mit.edu	37	4	143003189	143003189	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:143003189C>T	ENST00000513000.1	-	26	3070	c.2637G>A	c.(2635-2637)atG>atA	p.M879I	INPP4B_ENST00000508116.1_Missense_Mutation_p.M879I|INPP4B_ENST00000509777.1_Missense_Mutation_p.M879I|INPP4B_ENST00000308502.4_Missense_Mutation_p.M879I|INPP4B_ENST00000262992.4_Missense_Mutation_p.M879I	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	879					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.M879I(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GATACCTTCTCATGCAATCCA	0.343																																						uc003iix.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2635-2637)ATG>ATA		inositol polyphosphate-4-phosphatase, type II,							92.0	83.0	86.0					4																	143003189		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143003189C>T	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2637G>A	4.37:g.143003189C>T	ENSP00000425487:p.Met879Ile					INPP4B_uc003iiw.3_Missense_Mutation_p.M879I|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.M694I|INPP4B_uc011cho.1_RNA	p.M879I	NM_003866	NP_003857	O15327	INP4B_HUMAN			26	3232	-	all_hematologic(180;0.158)		879					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.2637G>A	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142555	0.94560	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777	T;T;T;T;T	0.40756	1.44;1.44;1.44;1.44;1.02	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.69314	0.3097	M	0.79693	2.465	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.69397	-0.5156	10	0.59425	D	0.04	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	879	O15327	INP4B_HUMAN	I	879	ENSP00000425487:M879I;ENSP00000262992:M879I;ENSP00000308441:M879I;ENSP00000423954:M879I;ENSP00000422793:M879I	ENSP00000262992:M879I	M	-	3	0	INPP4B	143222639	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.487000	0.81328	2.880000	0.98712	0.650000	0.86243	ATG		PASS	0.343	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		40	61	40	61	---	---	---	---
INPP4B	8821	broad.mit.edu	37	4	143029291	143029291	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:143029291G>C	ENST00000513000.1	-	24	2762	c.2329C>G	c.(2329-2331)Cta>Gta	p.L777V	INPP4B_ENST00000508116.1_Missense_Mutation_p.L777V|INPP4B_ENST00000509777.1_Missense_Mutation_p.L777V|INPP4B_ENST00000308502.4_Missense_Mutation_p.L777V|INPP4B_ENST00000262992.4_Missense_Mutation_p.L777V	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	777					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.L777V(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TATTCTTGTAGAAGTTCGAAG	0.323																																						uc003iix.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2329-2331)CTA>GTA		inositol polyphosphate-4-phosphatase, type II,							83.0	86.0	85.0					4																	143029291		2202	4299	6501	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143029291G>C	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2329C>G	4.37:g.143029291G>C	ENSP00000425487:p.Leu777Val					INPP4B_uc003iiw.3_Missense_Mutation_p.L777V|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.L592V|INPP4B_uc011cho.1_RNA	p.L777V	NM_003866	NP_003857	O15327	INP4B_HUMAN			24	2924	-	all_hematologic(180;0.158)		777					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.2329C>G	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704802	0.30232	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.49139	1.4;1.4;1.4;1.4;1.31;1.34;0.79;0.87	5.63	3.87	0.44632	.	0.079566	0.50627	N	0.000102	T	0.41143	0.1146	M	0.64260	1.97	0.47659	D	0.999483	B	0.15473	0.013	B	0.18263	0.021	T	0.19614	-1.0300	10	0.25751	T	0.34	.	7.3259	0.26555	0.1474:0.1448:0.7077:0.0	.	777	O15327	INP4B_HUMAN	V	777;777;777;648;777;777;592;592;777;648	ENSP00000425487:L777V;ENSP00000262992:L777V;ENSP00000308441:L777V;ENSP00000423954:L777V;ENSP00000422793:L777V;ENSP00000426207:L592V;ENSP00000427250:L777V;ENSP00000421065:L648V	ENSP00000262992:L777V	L	-	1	2	INPP4B	143248741	1.000000	0.71417	0.732000	0.30844	0.967000	0.64934	2.670000	0.46833	0.700000	0.31782	0.650000	0.86243	CTA		PASS	0.323	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		8	84	8	84	---	---	---	---
C4orf51	646603	broad.mit.edu	37	4	146617716	146617716	+	Nonsense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:146617716C>G	ENST00000438731.1	+	2	239	c.239C>G	c.(238-240)tCa>tGa	p.S80*		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	80								p.S80*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						CTTAGGATGTCATTGACAAAC	0.403																																						uc003ikk.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(238-240)TCA>TGA		chromosome 4 open reading frame 51							154.0	145.0	148.0					4																	146617716		1879	4105	5984	SO:0001587	stop_gained	646603							g.chr4:146617716C>G		CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.239C>G	4.37:g.146617716C>G	ENSP00000391404:p.Ser80*						p.S80*	NM_001080531	NP_001074000	C9J302	CD051_HUMAN			2	239	+			80						Nonsense_Mutation	SNP	ENST00000438731.1	37	c.239C>G	CCDS47140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.18|12.18	1.859791|1.859791	0.32884|0.32884	.|.	.|.	ENSG00000237136|ENSG00000237136	ENST00000511965|ENST00000438731	.|.	.|.	.|.	3.39|3.39	0.725|0.725	0.18242|0.18242	.|.	.|.	.|.	.|.	.|.	T|.	0.41396|.	0.1157|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.48387|.	-0.9040|.	3|.	.|0.42905	.|T	.|0.14	.|.	5.643|5.643	0.17575|0.17575	0.0:0.649:0.0:0.351|0.0:0.649:0.0:0.351	.|.	.|.	.|.	.|.	D|X	40|80	.|.	.|ENSP00000391404:S80X	H|S	+|+	1|2	0|0	C4orf51|C4orf51	146837166|146837166	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.015000|0.015000	0.08874|0.08874	-0.112000|-0.112000	0.10791|0.10791	0.122000|0.122000	0.18314|0.18314	-0.258000|-0.258000	0.10820|0.10820	CAT|TCA		PASS	0.403	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080531		40	75	40	75	---	---	---	---
PRMT9	90826	broad.mit.edu	37	4	148575157	148575157	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:148575157C>G	ENST00000322396.6	-	9	2133	c.1891G>C	c.(1891-1893)Gaa>Caa	p.E631Q	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.E518Q	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		631	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.E631Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TCAAGTGTTTCTTTAGGAAAG	0.418																																						uc003ilc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1891-1893)GAA>CAA		protein arginine methyltransferase 10							129.0	111.0	117.0					4																	148575157		2203	4300	6503	SO:0001583	missense	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148575157C>G																												ENST00000322396.6:c.1891G>C	4.37:g.148575157C>G	ENSP00000314396:p.Glu631Gln					PRMT10_uc003ilb.2_Missense_Mutation_p.E275Q|PRMT10_uc003ild.2_Missense_Mutation_p.E518Q	p.E631Q	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN			9	2033	-			631					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	c.1891G>C	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.358742	0.41801	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.30981	1.51;1.51	6.17	6.17	0.99709	.	0.448040	0.28021	N	0.016919	T	0.38295	0.1035	M	0.66939	2.045	0.40167	D	0.977136	B	0.18013	0.025	B	0.12156	0.007	T	0.10428	-1.0630	10	0.35671	T	0.21	-16.3233	20.8794	0.99867	0.0:1.0:0.0:0.0	.	631	Q6P2P2	ANM10_HUMAN	Q	631;518	ENSP00000314396:E631Q;ENSP00000439508:E518Q	ENSP00000314396:E631Q	E	-	1	0	PRMT10	148794607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.614000	0.54160	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.418	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			21	198	21	198	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153244124	153244124	+	Nonsense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:153244124G>C	ENST00000281708.4	-	12	3262	c.2033C>G	c.(2032-2034)tCa>tGa	p.S678*	FBXW7_ENST00000603548.1_Nonsense_Mutation_p.S678*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.S678*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.S598*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.S560*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.S502*|RP11-461L13.3_ENST00000603766.1_lincRNA	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	678					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.S678*(2)|p.S560*(1)|p.S598*(1)|p.S439*(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTTTGTGTTTGAGGCTCTGAT	0.493			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2				Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		6	Substitution - Nonsense(5)|Unknown(1)		lung(5)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(2032-2034)TCA>TGA		F-box and WD repeat domain containing 7 isoform							187.0	182.0	184.0					4																	153244124		2203	4300	6503	SO:0001587	stop_gained	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153244124G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.2033C>G	4.37:g.153244124G>C	ENSP00000281708:p.Ser678*					FBXW7_uc011cii.1_Nonsense_Mutation_p.S678*|FBXW7_uc003imt.2_Nonsense_Mutation_p.S678*|FBXW7_uc011cih.1_Nonsense_Mutation_p.S502*|FBXW7_uc003imq.2_Nonsense_Mutation_p.S598*|FBXW7_uc003imr.2_Nonsense_Mutation_p.S560*	p.S678*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			12	2182	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	678					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	c.2033C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655721	0.67586	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.67	5.67	0.87782	.	0.052026	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.4856	19.7667	0.96346	0.0:0.0:1.0:0.0	.	.	.	.	X	678;560;598;502	.	ENSP00000263981:S598X	S	-	2	0	FBXW7	153463574	1.000000	0.71417	0.985000	0.45067	0.990000	0.78478	9.837000	0.99465	2.681000	0.91329	0.655000	0.94253	TCA		PASS	0.493	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			44	233	44	233	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155157121	155157121	+	Missense_Mutation	SNP	C	C	G	rs145835627		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:155157121C>G	ENST00000357232.4	-	25	7317	c.7318G>C	c.(7318-7320)Gac>Cac	p.D2440H		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2440	Cadherin 22. {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.D2440H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AACTGTCTGTCTTTATTCTTT	0.428																																						uc003inw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(7318-7320)GAC>CAC		dachsous 2 isoform 1		C	HIS/ASP	0,4406		0,0,2203	83.0	87.0	86.0		7318	0.5	0.0	4	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense	DCHS2	NM_017639.3	81	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	possibly-damaging	2440/2917	155157121	1,13005	2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157121C>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7318G>C	4.37:g.155157121C>G	ENSP00000349768:p.Asp2440His						p.D2440H	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7318	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2440			Cadherin 22.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.7318G>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	6.699	0.497592	0.12762	0.0	1.16E-4	ENSG00000197410	ENST00000357232	T	0.60672	0.17	6.04	0.466	0.16716	Cadherin (2);Cadherin-like (1);	1.301030	0.05068	N	0.481124	T	0.45074	0.1324	L	0.29908	0.895	0.09310	N	1	P	0.45594	0.862	B	0.40165	0.321	T	0.37731	-0.9693	10	0.44086	T	0.13	.	7.2831	0.26322	0.1138:0.6596:0.0:0.2266	.	2440	Q6V1P9	PCD23_HUMAN	H	2440	ENSP00000349768:D2440H	ENSP00000349768:D2440H	D	-	1	0	DCHS2	155376571	0.000000	0.05858	0.000000	0.03702	0.514000	0.34195	0.430000	0.21428	-0.028000	0.13850	0.563000	0.77884	GAC		PASS	0.428	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		9	112	9	112	---	---	---	---
GLRB	2743	broad.mit.edu	37	4	158059978	158059978	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:158059978G>A	ENST00000264428.4	+	7	898	c.628G>A	c.(628-630)Gat>Aat	p.D210N	GLRB_ENST00000541722.1_Missense_Mutation_p.D210N|GLRB_ENST00000509282.1_Missense_Mutation_p.D210N|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	210					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)	p.D210N(1)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	CACAACTGATGATTTACGATT	0.259																																						uc003ipj.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(628-630)GAT>AAT		glycine receptor, beta isoform A precursor	Glycine(DB00145)						72.0	77.0	76.0					4																	158059978		2203	4295	6498	SO:0001583	missense	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158059978G>A	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.628G>A	4.37:g.158059978G>A	ENSP00000264428:p.Asp210Asn						p.D210N	NM_000824	NP_000815	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	7	830	+	all_hematologic(180;0.24)	Renal(120;0.0458)	210			Extracellular (Probable).		A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	ENST00000264428.4	37	c.628G>A	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222667	0.95139	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	T;T;T	0.79845	-1.31;-1.31;-1.31	5.5	5.5	0.81552	Neurotransmitter-gated ion-channel ligand-binding (3);	0.095712	0.64402	D	0.000001	D	0.91365	0.7276	M	0.86573	2.825	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.92444	0.5964	10	0.87932	D	0	.	19.3898	0.94576	0.0:0.0:1.0:0.0	.	210	P48167	GLRB_HUMAN	N	210	ENSP00000264428:D210N;ENSP00000441873:D210N;ENSP00000427186:D210N	ENSP00000264428:D210N	D	+	1	0	GLRB	158279428	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.769000	0.98969	2.586000	0.87340	0.650000	0.86243	GAT		PASS	0.259	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824		44	78	44	78	---	---	---	---
TRIM60	166655	broad.mit.edu	37	4	165962382	165962382	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:165962382G>A	ENST00000512596.1	+	3	1374	c.1158G>A	c.(1156-1158)tgG>tgA	p.W386*	TRIM60_ENST00000508504.1_Nonsense_Mutation_p.W386*|TRIM60_ENST00000341062.5_Nonsense_Mutation_p.W386*	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	386	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.W386*(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GCGGATTCTGGGCAATTGGGC	0.453																																						uc003iqy.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1156-1158)TGG>TGA		ring finger protein 129							114.0	118.0	117.0					4																	165962382		2203	4300	6503	SO:0001587	stop_gained	166655					intracellular	zinc ion binding	g.chr4:165962382G>A	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.1158G>A	4.37:g.165962382G>A	ENSP00000421142:p.Trp386*					TRIM60_uc010iqx.1_Nonsense_Mutation_p.W386*	p.W386*	NM_152620	NP_689833	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	1328	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	386			B30.2/SPRY.		Q8NA35	Nonsense_Mutation	SNP	ENST00000512596.1	37	c.1158G>A	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	G	35	5.497554	0.96355	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	.	.	.	2.69	2.69	0.31865	.	0.000000	0.41097	U	0.000955	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0399	0.36311	0.0:0.0:1.0:0.0	.	.	.	.	X	386	.	ENSP00000343765:W386X	W	+	3	0	TRIM60	166181832	1.000000	0.71417	0.984000	0.44739	0.724000	0.41520	7.296000	0.78790	1.805000	0.52779	0.655000	0.94253	TGG		PASS	0.453	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		77	128	77	128	---	---	---	---
TMEM192	201931	broad.mit.edu	37	4	166006831	166006831	+	Missense_Mutation	SNP	C	C	A	rs553668773		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:166006831C>A	ENST00000306480.6	-	5	729	c.584G>T	c.(583-585)cGg>cTg	p.R195L	TMEM192_ENST00000506087.1_Missense_Mutation_p.R191L	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	195						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)	p.R195L(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		ATTAAATCTCCGGATTTTCAC	0.318																																						uc003iqz.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(583-585)CGG>CTG		transmembrane protein 192							77.0	73.0	74.0					4																	166006831		1790	4061	5851	SO:0001583	missense	201931					Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus		g.chr4:166006831C>A	BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088			26775	protein-coding gene	gene with protein product						12477932	Standard	NM_001100389		Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.584G>T	4.37:g.166006831C>A	ENSP00000305069:p.Arg195Leu						p.R195L	NM_001100389	NP_001093859	Q8IY95	TM192_HUMAN		GBM - Glioblastoma multiforme(119;0.0926)	5	683	-	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	195			Cytoplasmic (Potential).		Q7Z3A1|Q8N928	Missense_Mutation	SNP	ENST00000306480.6	37	c.584G>T	CCDS43279.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.513580	0.00975	.	.	ENSG00000170088	ENST00000306480;ENST00000506087;ENST00000505095	.	.	.	5.28	0.197	0.15164	.	0.759418	0.13581	N	0.377379	T	0.26448	0.0646	L	0.50919	1.6	0.09310	N	1	P	0.40302	0.712	B	0.35727	0.209	T	0.21245	-1.0251	9	0.10902	T	0.67	-23.766	11.0725	0.48012	0.0:0.5486:0.0:0.4514	.	195	Q8IY95	TM192_HUMAN	L	195;191;54	.	ENSP00000305069:R195L	R	-	2	0	TMEM192	166226281	0.155000	0.22806	0.000000	0.03702	0.043000	0.13939	-0.087000	0.11215	-0.492000	0.06687	-1.814000	0.00607	CGG		PASS	0.318	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364310.3	NM_152681		14	105	14	105	---	---	---	---
VEGFC	7424	broad.mit.edu	37	4	177608573	177608573	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:177608573C>G	ENST00000280193.2	-	6	1328	c.913G>C	c.(913-915)Gga>Cga	p.G305R	VEGFC_ENST00000507638.1_5'Flank|RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	305	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.G305R(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTGTGGGGTCCACAGCTGGCA	0.507																																						uc003ius.1																			1	Substitution - Missense(1)		lung(1)	lung(5)	5						c.(913-915)GGA>CGA		vascular endothelial growth factor C							128.0	115.0	119.0					4																	177608573		1933	4147	6080	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177608573C>G	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.913G>C	4.37:g.177608573C>G	ENSP00000280193:p.Gly305Arg						p.G305R	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	6	1343	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	305			4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.|2.		B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.913G>C	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631646	0.87660	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.82323	0.5012	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78283	-0.2264	9	0.25106	T	0.35	-19.0284	19.9099	0.97023	0.0:1.0:0.0:0.0	.	305	P49767	VEGFC_HUMAN	R	305	.	ENSP00000280193:G305R	G	-	1	0	VEGFC	177845567	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.291000	0.78721	2.691000	0.91804	0.650000	0.86243	GGA		PASS	0.507	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		90	120	90	120	---	---	---	---
ACSL1	2180	broad.mit.edu	37	4	185687114	185687114	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:185687114C>G	ENST00000515030.1	-	14	1615	c.1290G>C	c.(1288-1290)ctG>ctC	p.L430L	ACSL1_ENST00000437665.3_Silent_p.L259L|ACSL1_ENST00000454703.2_Silent_p.L259L|ACSL1_ENST00000513317.1_Silent_p.L430L|ACSL1_ENST00000281455.2_Silent_p.L430L|ACSL1_ENST00000504342.1_Silent_p.L430L|ACSL1_ENST00000507295.1_Silent_p.L396L			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	430					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.L430L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTGTCACCATCAGCCGGACTC	0.652																																						uc003iww.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1288-1290)CTG>CTC		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						60.0	60.0	60.0					4																	185687114		2203	4300	6503	SO:0001819	synonymous_variant	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185687114C>G	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1290G>C	4.37:g.185687114C>G						ACSL1_uc011ckm.1_Silent_p.L259L|ACSL1_uc003iwt.1_Silent_p.L430L|ACSL1_uc003iwu.1_Silent_p.L430L|ACSL1_uc011ckn.1_Silent_p.L396L|ACSL1_uc003iws.1_5'UTR	p.L430L	NM_001995	NP_001986	P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	14	1584	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	430			Cytoplasmic (Potential).		B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Silent	SNP	ENST00000515030.1	37	c.1290G>C	CCDS3839.1																																																																																				PASS	0.652	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		36	68	36	68	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186533109	186533109	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:186533109C>T	ENST00000284776.7	-	18	3418	c.2909G>A	c.(2908-2910)aGa>aAa	p.R970K	SORBS2_ENST00000437304.2_Missense_Mutation_p.R694K|SORBS2_ENST00000355634.5_Missense_Mutation_p.R1070K|SORBS2_ENST00000393528.3_Missense_Mutation_p.R536K|SORBS2_ENST00000418609.1_Missense_Mutation_p.R874K|SORBS2_ENST00000449407.2_Missense_Mutation_p.R514K|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000431808.1_Missense_Mutation_p.R970K|SORBS2_ENST00000319471.9_Missense_Mutation_p.R601K|SORBS2_ENST00000448662.2_Missense_Mutation_p.R531K	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	970	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.R970K(1)|p.R536K(1)|p.R694K(1)|p.R531K(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TTGATCAACTCTTTTAAGAAG	0.343																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2																			4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(2908-2910)AGA>AAA		sorbin and SH3 domain containing 2 isoform 2							125.0	116.0	119.0					4																	186533109		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186533109C>T		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2909G>A	4.37:g.186533109C>T	ENSP00000284776:p.Arg970Lys					SORBS2_uc003iyh.2_Missense_Mutation_p.R694K|SORBS2_uc011ckw.1_Missense_Mutation_p.R531K|SORBS2_uc003iyi.2_Missense_Mutation_p.R601K|SORBS2_uc011ckx.1_Missense_Mutation_p.R536K|SORBS2_uc003iyk.2_Missense_Mutation_p.R514K|SORBS2_uc003iym.2_Missense_Mutation_p.R1070K|SORBS2_uc003iyn.1_Missense_Mutation_p.R561K|SORBS2_uc011cku.1_Missense_Mutation_p.R362K|SORBS2_uc011ckv.1_Missense_Mutation_p.R874K|SORBS2_uc003iyd.2_Missense_Mutation_p.R669K|SORBS2_uc003iye.2_Missense_Mutation_p.R543K|SORBS2_uc003iya.2_Missense_Mutation_p.R490K|SORBS2_uc003iyb.2_Missense_Mutation_p.R443K|SORBS2_uc003iyc.2_Missense_Mutation_p.R423K|SORBS2_uc003iyg.2_Missense_Mutation_p.R1084K|SORBS2_uc003iyf.2_Missense_Mutation_p.R506K|SORBS2_uc003iyo.1_Missense_Mutation_p.R419K	p.R970K	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	18	3767	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	970			SH3 2.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2909G>A	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580575	0.46006	.	.	ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454	T;T;T;T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.27	5.27	0.74061	Src homology-3 domain (4);	0.055565	0.64402	D	0.000001	T	0.35740	0.0942	N	0.03881	-0.34	0.43874	D	0.996484	D;B;P;P;P;P;P;B;B;P;P;B;D;D	0.59357	0.959;0.131;0.888;0.93;0.544;0.914;0.838;0.051;0.046;0.659;0.624;0.164;0.985;0.968	D;B;P;P;P;P;P;B;B;B;P;B;D;D	0.70716	0.937;0.057;0.654;0.817;0.536;0.782;0.831;0.114;0.193;0.191;0.45;0.084;0.97;0.954	T	0.19877	-1.0292	10	0.11794	T	0.64	-33.0249	12.4102	0.55464	0.0:0.9237:0.0:0.0763	.	536;531;874;362;419;561;1070;970;514;694;531;561;515;536	G3XAI0;C9JKV9;B7Z3X6;B7Z997;B3KPU4;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2	.;.;.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.	K	970;531;970;874;694;601;514;1070;536;561	ENSP00000284776:R970K;ENSP00000409158:R531K;ENSP00000411764:R970K;ENSP00000397482:R874K;ENSP00000396008:R694K;ENSP00000322182:R601K;ENSP00000397262:R514K;ENSP00000347852:R1070K;ENSP00000377162:R536K;ENSP00000321983:R561K	ENSP00000284776:R970K	R	-	2	0	SORBS2	186770103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.249000	0.58766	2.736000	0.93811	0.591000	0.81541	AGA		PASS	0.343	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		5	57	5	57	---	---	---	---
KLKB1	3818	broad.mit.edu	37	4	187178478	187178478	+	Missense_Mutation	SNP	G	G	A	rs61750344		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:187178478G>A	ENST00000264690.6	+	14	1871	c.1684G>A	c.(1684-1686)Gtc>Atc	p.V562I	KLKB1_ENST00000513864.1_Intron	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	562	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.V562I(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CCAACGGATGGTCTGTGCTGG	0.328																																						uc003iyy.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1684-1686)GTC>ATC		plasma kallikrein B1 precursor		G	ILE/VAL	0,4402		0,0,2201	98.0	116.0	110.0		1684	-1.5	1.0	4	dbSNP_129	110	1,8595	1.2+/-3.3	0,1,4297	yes	missense	KLKB1	NM_000892.3	29	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	562/639	187178478	1,12997	2201	4298	6499	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187178478G>A	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1684G>A	4.37:g.187178478G>A	ENSP00000264690:p.Val562Ile					KLKB1_uc011clc.1_Missense_Mutation_p.V360I|KLKB1_uc011cld.1_Intron	p.V562I	NM_000892	NP_000883	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	14	1755	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	562			Peptidase S1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1684G>A	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.215|1.215	-0.628472|-0.628472	0.03610|0.03610	0.0|0.0	1.16E-4|1.16E-4	ENSG00000164344|ENSG00000164344	ENST00000264690|ENST00000511608	D|.	0.87729|.	-2.29|.	5.97|5.97	-1.47|-1.47	0.08772|0.08772	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.482262|.	0.21661|.	N|.	0.071010|.	T|.	0.09113|.	0.0225|.	N|N	0.00670|0.00670	-1.27|-1.27	0.80722|0.80722	D|D	1|1	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.11329|.	0.006;0.003|.	T|.	0.21245|.	-1.0251|.	10|.	0.02654|.	T|.	1|.	.|.	1.9408|1.9408	0.03346|0.03346	0.4326:0.2137:0.2487:0.1049|0.4326:0.2137:0.2487:0.1049	rs61750344|rs61750344	562;562|.	A8K9A9;P03952|.	.;KLKB1_HUMAN|.	I|X	562|609	ENSP00000264690:V562I|.	ENSP00000264690:V562I|.	V|W	+|+	1|3	0|0	KLKB1|KLKB1	187415472|187415472	0.919000|0.919000	0.31177|0.31177	0.996000|0.996000	0.52242|0.52242	0.611000|0.611000	0.37282|0.37282	0.064000|0.064000	0.14437|0.14437	-0.196000|-0.196000	0.10366|0.10366	-0.176000|-0.176000	0.13171|0.13171	GTC|TGG		PASS	0.328	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		9	214	9	214	---	---	---	---
F11	2160	broad.mit.edu	37	4	187207596	187207596	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:187207596C>G	ENST00000403665.2	+	13	1860	c.1508C>G	c.(1507-1509)tCc>tGc	p.S503C	F11_ENST00000264692.4_Missense_Mutation_p.S451C|F11-AS1_ENST00000505103.1_RNA	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	503	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		S -> P (in FA11D; dbSNP:rs140068026). {ECO:0000269|PubMed:18005151}.		blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.S503C(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TGCCTGCCTTCCAAAGGAGAT	0.378																																						uc003iza.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1507-1509)TCC>TGC		coagulation factor XI precursor	Coagulation Factor IX(DB00100)						155.0	169.0	164.0					4																	187207596		2203	4300	6503	SO:0001583	missense	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187207596C>G	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1508C>G	4.37:g.187207596C>G	ENSP00000384957:p.Ser503Cys					uc003izb.1_Intron	p.S503C	NM_000128	NP_000119	P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	13	1841	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	503			Peptidase S1.		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	c.1508C>G	CCDS3847.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081331	0.55753	.	.	ENSG00000088926	ENST00000403665;ENST00000264692	D;D	0.89415	-2.51;-2.51	5.25	4.38	0.52667	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.435242	0.24182	N	0.040783	D	0.94003	0.8079	M	0.79614	2.46	0.36122	D	0.845555	D	0.89917	1.0	D	0.91635	0.999	D	0.96592	0.9438	10	0.87932	D	0	.	14.425	0.67210	0.0:0.8529:0.1471:0.0	.	503	P03951	FA11_HUMAN	C	503;451	ENSP00000384957:S503C;ENSP00000264692:S451C	ENSP00000264692:S451C	S	+	2	0	F11	187444590	0.990000	0.36364	0.927000	0.36925	0.580000	0.36256	3.354000	0.52254	1.517000	0.48917	0.655000	0.94253	TCC		PASS	0.378	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			118	190	118	190	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187584725	187584725	+	Missense_Mutation	SNP	G	G	A	rs570356471		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:187584725G>A	ENST00000441802.2	-	3	3517	c.3308C>T	c.(3307-3309)tCc>tTc	p.S1103F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1103	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1103F(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCAATAATGGGAGGTCGATTC	0.458										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - Missense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(3307-3309)TCC>TTC		FAT tumor suppressor 1 precursor							88.0	84.0	85.0					4																	187584725		1971	4172	6143	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187584725G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3308C>T	4.37:g.187584725G>A	ENSP00000406229:p.Ser1103Phe	HNSCC(5;0.00058)					p.S1103F	NM_005245	NP_005236	Q14517	FAT1_HUMAN			3	3496	-			1103			Extracellular (Potential).|Cadherin 9.			Missense_Mutation	SNP	ENST00000441802.2	37	c.3308C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894556	0.72639	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.62639	0.01	5.12	3.39	0.38822	Cadherin (4);Cadherin-like (1);	0.230621	0.46145	D	0.000301	T	0.77157	0.4089	M	0.90759	3.145	0.42012	D	0.990949	P	0.51147	0.942	P	0.57204	0.815	T	0.79383	-0.1826	10	0.62326	D	0.03	.	9.9733	0.41768	0.0717:0.0:0.7899:0.1384	.	1103	Q14517	FAT1_HUMAN	F	1103	ENSP00000406229:S1103F	ENSP00000260147:S1103F	S	-	2	0	FAT1	187821719	1.000000	0.71417	0.481000	0.27354	0.964000	0.63967	6.326000	0.72905	0.730000	0.32425	0.591000	0.81541	TCC		PASS	0.458	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		4	119	4	119	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190883087	190883087	+	Splice_Site	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr4:190883087G>T	ENST00000226798.4	+	8	962	c.740G>T	c.(739-741)aGg>aTg	p.R247M		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	247					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.R247M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CTTCTGGACAGGTAGCTATTT	0.328																																						uc003izs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(739-741)AGG>ATG		FSHD region gene 1							65.0	81.0	75.0					4																	190883087		2132	4135	6267	SO:0001630	splice_region_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190883087G>T	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.740+1G>T	4.37:g.190883087G>T							p.R247M	NM_004477	NP_004468	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	8	931	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	247			Bipartite nuclear localization signal (Potential).		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	c.740G>T	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	18.96	3.733632	0.69189	.	.	ENSG00000109536	ENST00000226798	T	0.38240	1.15	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.64832	0.2634	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71213	-0.4659	10	0.44086	T	0.13	-0.9334	13.6793	0.62474	0.0:0.0:1.0:0.0	.	247	Q14331	FRG1_HUMAN	M	247	ENSP00000226798:R247M	ENSP00000226798:R247M	R	+	2	0	FRG1	191120081	1.000000	0.71417	0.998000	0.56505	0.586000	0.36452	9.209000	0.95087	1.877000	0.54381	0.479000	0.44913	AGG		PASS	0.328	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	Missense_Mutation	4	119	4	119	---	---	---	---
PLEKHG4B	153478	broad.mit.edu	37	5	182199	182199	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:182199G>C	ENST00000283426.6	+	18	3627	c.3577G>C	c.(3577-3579)Gac>Cac	p.D1193H		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1193	Ser-rich.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D1193H(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CACCATCTCAGACAGCAGCAC	0.627																																						uc003jak.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(3577-3579)GAC>CAC		pleckstrin homology domain containing, family G							108.0	97.0	101.0					5																	182199		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:182199G>C	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3577G>C	5.37:g.182199G>C	ENSP00000283426:p.Asp1193His						p.D1193H	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	18	3627	+			1193			Ser-rich.			Missense_Mutation	SNP	ENST00000283426.6	37	c.3577G>C	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	9.688	1.151211	0.21371	.	.	ENSG00000153404	ENST00000283426	T	0.28666	1.6	3.65	1.35	0.21983	.	.	.	.	.	T	0.24890	0.0604	N	0.19112	0.55	0.22745	N	0.99879	P	0.50617	0.937	P	0.51550	0.673	T	0.09487	-1.0672	9	0.66056	D	0.02	.	3.9917	0.09539	0.447:0.0:0.553:0.0	.	1193	Q96PX9	PKH4B_HUMAN	H	1193	ENSP00000283426:D1193H	ENSP00000283426:D1193H	D	+	1	0	PLEKHG4B	235199	0.989000	0.36119	0.311000	0.25182	0.873000	0.50193	2.766000	0.47629	0.514000	0.28300	0.467000	0.42956	GAC		PASS	0.627	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		7	125	7	125	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5232531	5232531	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:5232531C>T	ENST00000274181.7	+	12	1890	c.1752C>T	c.(1750-1752)ccC>ccT	p.P584P		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	584	Disintegrin.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P584P(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCCCCAAGCCCACCCATGGCC	0.527																																						uc003jdl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(1750-1752)CCC>CCT		ADAM metallopeptidase with thrombospondin type 1							101.0	116.0	111.0					5																	5232531		2093	4212	6305	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5232531C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1752C>T	5.37:g.5232531C>T						ADAMTS16_uc003jdk.1_Silent_p.P584P|ADAMTS16_uc010itk.1_5'Flank	p.P584P	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			12	1890	+			584			Disintegrin.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.1752C>T	CCDS43299.1																																																																																				PASS	0.527	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		9	207	9	207	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5235206	5235206	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:5235206A>C	ENST00000274181.7	+	13	2068	c.1930A>C	c.(1930-1932)Agt>Cgt	p.S644R	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	644	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S644R(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCCCCGGGACAGTGTTGACTT	0.522																																						uc003jdl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(1930-1932)AGT>CGT		ADAM metallopeptidase with thrombospondin type 1							77.0	81.0	80.0					5																	5235206		1949	4144	6093	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5235206A>C	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1930A>C	5.37:g.5235206A>C	ENSP00000274181:p.Ser644Arg					ADAMTS16_uc003jdk.1_Missense_Mutation_p.S644R|ADAMTS16_uc010itk.1_RNA	p.S644R	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			13	2068	+			644			Cys-rich.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1930A>C	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.370179	0.42003	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.05855	3.38	4.67	4.67	0.58626	.	0.238027	0.42548	D	0.000692	T	0.10294	0.0252	M	0.69823	2.125	0.24308	N	0.995092	B;P	0.35600	0.067;0.511	B;B	0.37480	0.014;0.251	T	0.17107	-1.0380	10	0.20046	T	0.44	.	13.4169	0.60974	1.0:0.0:0.0:0.0	.	644;644	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	R	644	ENSP00000274181:S644R	ENSP00000274181:S644R	S	+	1	0	ADAMTS16	5288206	0.995000	0.38212	0.069000	0.20011	0.877000	0.50540	3.146000	0.50631	1.888000	0.54679	0.533000	0.62120	AGT		PASS	0.522	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		43	99	43	99	---	---	---	---
PAPD7	11044	broad.mit.edu	37	5	6750603	6750603	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:6750603C>T	ENST00000230859.6	+	10	1226	c.1097C>T	c.(1096-1098)tCt>tTt	p.S366F		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	596					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)	p.S366F(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCTTCACTTTCTGGGAGTGAC	0.567																																					NSCLC(7;212 333 5667 23379 46547)	uc003jdx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1096-1098)TCT>TTT		DNA polymerase sigma							76.0	68.0	71.0					5																	6750603		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6750603C>T	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1097C>T	5.37:g.6750603C>T	ENSP00000230859:p.Ser366Phe					PAPD7_uc011cmn.1_Missense_Mutation_p.S357F|PAPD7_uc010itl.1_Missense_Mutation_p.S186F	p.S366F	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN			10	1226	+			366			Ser-rich.		A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.1097C>T	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942020	0.53079	.	.	ENSG00000112941	ENST00000230859	T	0.40225	1.04	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.61887	0.2383	L	0.59436	1.845	0.58432	D	0.999993	D;D	0.65815	0.995;0.995	D;D	0.75484	0.986;0.986	T	0.64466	-0.6401	10	0.87932	D	0	-4.364	16.6884	0.85315	0.0:1.0:0.0:0.0	.	366;366	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	F	366	ENSP00000230859:S366F	ENSP00000230859:S366F	S	+	2	0	PAPD7	6803603	1.000000	0.71417	0.094000	0.20943	0.069000	0.16628	5.835000	0.69368	2.466000	0.83321	0.561000	0.74099	TCT		PASS	0.567	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		4	103	4	103	---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16754996	16754996	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:16754996C>A	ENST00000513610.1	-	19	2324	c.1870G>T	c.(1870-1872)Gca>Tca	p.A624S		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	624	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.A624S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTTAGCGTTGCCATTAAGGAA	0.388																																						uc003jft.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1870-1872)GCA>TCA		myosin X							65.0	63.0	63.0					5																	16754996		1959	4179	6138	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16754996C>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1870G>T	5.37:g.16754996C>A	ENSP00000421280:p.Ala624Ser					MYO10_uc010itx.2_Missense_Mutation_p.A247S	p.A624S	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			19	2338	-			624			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.1870G>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126230	0.56721	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	T;T	0.70749	-0.51;-0.51	5.77	5.77	0.91146	Myosin head, motor domain (2);	.	.	.	.	T	0.60130	0.2245	N	0.21617	0.685	0.80722	D	1	P;B	0.42785	0.79;0.387	B;B	0.39068	0.268;0.289	T	0.58244	-0.7670	9	0.25751	T	0.34	.	19.9983	0.97395	0.0:1.0:0.0:0.0	.	265;624	Q69YP8;Q9HD67	.;MYO10_HUMAN	S	624;635	ENSP00000421280:A624S;ENSP00000421309:A635S	ENSP00000421280:A624S	A	-	1	0	MYO10	16807996	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.697000	0.68295	2.724000	0.93272	0.561000	0.74099	GCA		PASS	0.388	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		7	19	7	19	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19838895	19838895	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:19838895C>A	ENST00000507958.1	-	5	1191	c.201G>T	c.(199-201)atG>atT	p.M67I	CDH18_ENST00000511273.1_Missense_Mutation_p.M67I|CDH18_ENST00000506372.1_Missense_Mutation_p.M67I|CDH18_ENST00000382275.1_Missense_Mutation_p.M67I|CDH18_ENST00000502796.1_Missense_Mutation_p.M67I|CDH18_ENST00000274170.4_Missense_Mutation_p.M67I			Q13634	CAD18_HUMAN	cadherin 18, type 2	67	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M67I(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GATCTGGTCCCATATGTTCTT	0.393																																						uc003jgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(199-201)ATG>ATT		cadherin 18, type 2 preproprotein							128.0	112.0	117.0					5																	19838895		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19838895C>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.201G>T	5.37:g.19838895C>A	ENSP00000425093:p.Met67Ile					CDH18_uc003jgd.2_Missense_Mutation_p.M67I|CDH18_uc011cnm.1_Missense_Mutation_p.M67I	p.M67I	NM_004934	NP_004925	Q13634	CAD18_HUMAN			2	578	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		67			Extracellular (Potential).|Cadherin 1.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.201G>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817787	0.50633	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.00497	6.98;6.98;6.98;6.98;6.98;6.98;6.98	5.77	5.77	0.91146	Cadherin (1);Cadherin-like (1);	0.117120	0.85682	D	0.000000	T	0.00384	0.0012	N	0.22421	0.69	0.44073	D	0.996823	B;B	0.13145	0.007;0.0	B;B	0.10450	0.005;0.004	T	0.74297	-0.3711	9	.	.	.	.	11.9598	0.53001	0.0:0.9205:0.0:0.0795	.	67;67	B4DHG6;Q13634	.;CAD18_HUMAN	I	67;67;67;67;67;67;13;67	ENSP00000371710:M67I;ENSP00000425093:M67I;ENSP00000274170:M67I;ENSP00000424931:M67I;ENSP00000422138:M67I;ENSP00000427383:M13I;ENSP00000425854:M67I	.	M	-	3	0	CDH18	19874652	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.481000	0.35476	2.729000	0.93468	0.655000	0.94253	ATG		PASS	0.393	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		24	109	24	109	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21975445	21975445	+	Nonsense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:21975445G>C	ENST00000382254.1	-	6	1367	c.281C>G	c.(280-282)tCa>tGa	p.S94*	CDH12_ENST00000504376.2_Nonsense_Mutation_p.S94*|CDH12_ENST00000522262.1_Nonsense_Mutation_p.S94*	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	94	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S94*(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GCCATCTCCTGAGAGGGTGTA	0.463										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(280-282)TCA>TGA		cadherin 12, type 2 preproprotein							63.0	64.0	63.0					5																	21975445		2042	3877	5919	SO:0001587	stop_gained	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21975445G>C	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.281C>G	5.37:g.21975445G>C	ENSP00000371689:p.Ser94*	HNSCC(59;0.17)				CDH12_uc011cno.1_Nonsense_Mutation_p.S94*|CDH12_uc003jgk.2_Nonsense_Mutation_p.S94*	p.S94*	NM_004061	NP_004052	P55289	CAD12_HUMAN			3	739	-			94			Cadherin 1.|Extracellular (Potential).		B2RBT1|B7Z2U6|Q86UD2	Nonsense_Mutation	SNP	ENST00000382254.1	37	c.281C>G	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	42	9.226486	0.99106	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	.	.	.	5.16	5.16	0.70880	.	0.066986	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	12.0465	0.53483	0.0794:0.0:0.9206:0.0	.	.	.	.	X	94	.	ENSP00000371689:S94X	S	-	2	0	CDH12	22011202	1.000000	0.71417	0.992000	0.48379	0.951000	0.60555	7.576000	0.82467	2.414000	0.81942	0.484000	0.47621	TCA		PASS	0.463	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		29	259	29	259	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23526672	23526672	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:23526672G>A	ENST00000296682.3	+	11	1657	c.1475G>A	c.(1474-1476)aGa>aAa	p.R492K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	492					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.R492K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTGGGAAAAAGAATAATGGAA	0.448										HNSCC(3;0.000094)																												uc003jgo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1474-1476)AGA>AAA		PR domain containing 9							48.0	48.0	48.0					5																	23526672		2032	4196	6228	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526672G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1475G>A	5.37:g.23526672G>A	ENSP00000296682:p.Arg492Lys	HNSCC(3;0.000094)					p.R492K	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1657	+			492					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1475G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381631	0.24944	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.08370	3.1	2.71	-0.674	0.11369	.	0.198027	0.25305	N	0.031626	T	0.05686	0.0149	L	0.50333	1.59	0.20563	N	0.999886	B	0.26483	0.15	B	0.23419	0.046	T	0.37291	-0.9712	10	0.18276	T	0.48	-6.856	2.2828	0.04119	0.1261:0.1886:0.493:0.1922	.	492	Q9NQV7	PRDM9_HUMAN	K	492;286	ENSP00000296682:R492K	ENSP00000253473:R286K	R	+	2	0	PRDM9	23562429	0.894000	0.30519	0.064000	0.19789	0.050000	0.14768	0.923000	0.28757	-0.175000	0.10725	0.505000	0.49811	AGA		PASS	0.448	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		12	44	12	44	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23527570	23527570	+	Silent	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:23527570C>A	ENST00000296682.3	+	11	2555	c.2373C>A	c.(2371-2373)ctC>ctA	p.L791L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	791					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.L791L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGTCAAACCTCCTCAGTCACC	0.562										HNSCC(3;0.000094)																												uc003jgo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(2371-2373)CTC>CTA		PR domain containing 9							99.0	93.0	95.0					5																	23527570		2196	4294	6490	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527570C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2373C>A	5.37:g.23527570C>A		HNSCC(3;0.000094)					p.L791L	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2555	+			791			C2H2-type 11.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.2373C>A	CCDS43307.1																																																																																				PASS	0.562	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		45	197	45	197	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24498608	24498608	+	Missense_Mutation	SNP	G	G	T	rs201738748		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:24498608G>T	ENST00000264463.4	-	9	1921	c.1414C>A	c.(1414-1416)Cgc>Agc	p.R472S	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	472	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R472S(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACAGCCACGCGTGTTGTCTCT	0.383										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(1414-1416)CGC>AGC		cadherin 10, type 2 preproprotein							81.0	82.0	82.0					5																	24498608		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24498608G>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1414C>A	5.37:g.24498608G>T	ENSP00000264463:p.Arg472Ser	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.R472S	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	9	1746	-			472			Cadherin 4.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1414C>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563332	0.45694	.	.	ENSG00000040731	ENST00000264463	T	0.51574	0.7	5.53	5.53	0.82687	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	N	0.20401	0.57	0.49915	D	0.999839	B	0.32526	0.374	B	0.42138	0.377	T	0.20174	-1.0283	10	0.17832	T	0.49	.	18.4486	0.90695	0.0:0.0:1.0:0.0	.	472	Q9Y6N8	CAD10_HUMAN	S	472	ENSP00000264463:R472S	ENSP00000264463:R472S	R	-	1	0	CDH10	24534365	1.000000	0.71417	0.828000	0.32881	0.340000	0.28889	6.051000	0.71072	2.613000	0.88420	0.655000	0.94253	CGC		PASS	0.383	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		45	120	45	120	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33561194	33561194	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:33561194C>A	ENST00000504830.1	-	20	4398	c.4063G>T	c.(4063-4065)Gac>Tac	p.D1355Y	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D1270Y	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1355	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D1355N(1)|p.D1355Y(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTTGCAGGGTCAGGTCTCTGG	0.572										HNSCC(64;0.19)																												uc003jia.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4063-4065)GAC>TAC		ADAM metallopeptidase with thrombospondin type 1							131.0	117.0	122.0					5																	33561194		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33561194C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4063G>T	5.37:g.33561194C>A	ENSP00000422554:p.Asp1355Tyr	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.D1270Y	p.D1355Y	NM_030955	NP_112217	P58397	ATS12_HUMAN			20	4226	-			1355			TSP type-1 5.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4063G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091946	0.76756	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60299	0.2;0.2	5.4	5.4	0.78164	.	0.239932	0.43416	D	0.000563	T	0.76256	0.3962	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.939;0.964	T	0.78309	-0.2254	10	0.62326	D	0.03	.	18.7866	0.91957	0.0:1.0:0.0:0.0	.	1270;1355	P58397-3;P58397	.;ATS12_HUMAN	Y	1355;1270	ENSP00000422554:D1355Y;ENSP00000344847:D1270Y	ENSP00000344847:D1270Y	D	-	1	0	ADAMTS12	33596951	1.000000	0.71417	0.997000	0.53966	0.582000	0.36321	7.278000	0.78587	2.528000	0.85240	0.650000	0.86243	GAC		PASS	0.572	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		67	198	67	198	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33576160	33576160	+	Splice_Site	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:33576160T>A	ENST00000504830.1	-	19	4306	c.3971A>T	c.(3970-3972)gAg>gTg	p.E1324V	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Splice_Site_p.E1239V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1324	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E1324V(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATGTCTTACCTCGCTCCAGTT	0.418										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3970-3972)GAG>GTG		ADAM metallopeptidase with thrombospondin type 1							74.0	74.0	74.0					5																	33576160		2203	4300	6503	SO:0001630	splice_region_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576160T>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3972+1A>T	5.37:g.33576160T>A		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.E1239V	p.E1324V	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	4134	-			1324			TSP type-1 5.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3971A>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.155407	0.78114	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.55760	0.5;0.5	5.61	5.61	0.85477	.	0.492724	0.21469	N	0.074040	T	0.71451	0.3341	M	0.76002	2.32	0.80722	D	1	D;D	0.60575	0.985;0.988	P;D	0.65443	0.893;0.935	T	0.73563	-0.3943	10	0.54805	T	0.06	.	15.8142	0.78586	0.0:0.0:0.0:1.0	.	1239;1324	P58397-3;P58397	.;ATS12_HUMAN	V	1324;1239	ENSP00000422554:E1324V;ENSP00000344847:E1239V	ENSP00000344847:E1239V	E	-	2	0	ADAMTS12	33611917	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	4.934000	0.63491	2.143000	0.66587	0.533000	0.62120	GAG		PASS	0.418	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	Missense_Mutation	44	124	44	124	---	---	---	---
RAD1	5810	broad.mit.edu	37	5	34908871	34908871	+	Nonstop_Mutation	SNP	C	C	G	rs201074233		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:34908871C>G	ENST00000382038.2	-	6	2267	c.848G>C	c.(847-849)tGa>tCa	p.*283S	RAD1_ENST00000341754.4_Nonstop_Mutation_p.*283S	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 checkpoint DNA exonuclease	0					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|meiotic recombination checkpoint (GO:0051598)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|substantia nigra development (GO:0021762)	chromosome (GO:0005694)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|damaged DNA binding (GO:0003684)|exodeoxyribonuclease III activity (GO:0008853)	p.*283S(1)		endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTGTCATACTCAAGACTCAGA	0.313								Other conserved DNA damage response genes																														uc003jix.2																			1	Nonstop extension(1)		lung(1)		0						c.(847-849)TGA>TCA	Other_conserved_DNA_damage_response_genes	RAD1 homolog							76.0	73.0	74.0					5																	34908871		2203	4298	6501	SO:0001578	stop_lost	5810				DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding	g.chr5:34908871C>G	AF074717	CCDS3905.1	5p13	2014-08-08	2014-08-08		ENSG00000113456	ENSG00000113456	3.1.11.2		9806	protein-coding gene	gene with protein product	"""exonuclease homolog RAD1"", ""checkpoint control protein HRAD1"", ""cell cycle checkpoint protein Hrad1"", ""Rad1-like DNA damage checkpoint"", ""DNA repair exonuclease REC1"""	603153	"""RAD1 (S. pombe) homolog"", ""RAD1 homolog (S. pombe)"""			9716408, 9828137	Standard	NR_026591		Approved	HRAD1, REC1	uc003jix.3	O60671	OTTHUMG00000090783	ENST00000382038.2:c.848G>C	5.37:g.34908871C>G						RAD1_uc003jiw.2_Nonstop_Mutation_p.*174S|RAD1_uc003jiy.2_Nonstop_Mutation_p.*283S	p.*283S	NM_002853	NP_002844	O60671	RAD1_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		6	1177	-	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	283					O75572|O95304|Q1W161|Q5KSM0|Q5KSM1|Q9UEP1	Nonstop_Mutation	SNP	ENST00000382038.2	37	c.848G>C	CCDS3905.1	.	.	.	.	.	.	.	.	.	.	C	4.739	0.137336	0.09032	.	.	ENSG00000113456	ENST00000382038;ENST00000341754;ENST00000542494	.	.	.	5.73	-0.383	0.12477	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9443	0.01362	0.1455:0.2488:0.2934:0.3123	.	.	.	.	S	283;283;247	.	.	X	-	2	2	RAD1	34944628	0.894000	0.30519	0.929000	0.37066	0.084000	0.17831	0.689000	0.25437	0.218000	0.20820	-0.150000	0.13652	TGA		PASS	0.313	RAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207567.1	NM_002853		12	151	12	151	---	---	---	---
LMBRD2	92255	broad.mit.edu	37	5	36115160	36115160	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:36115160G>A	ENST00000296603.4	-	12	1961	c.1499C>T	c.(1498-1500)tCa>tTa	p.S500L		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	500						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S500L(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAGATAGATGAATCCATATG	0.338																																						uc003jkb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1498-1500)TCA>TTA		LMBR1 domain containing 2							80.0	82.0	81.0					5																	36115160		2203	4300	6503	SO:0001583	missense	92255					integral to membrane		g.chr5:36115160G>A		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.1499C>T	5.37:g.36115160G>A	ENSP00000296603:p.Ser500Leu						p.S500L	NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		12	1914	-	all_lung(31;0.000146)		500			Extracellular (Potential).		B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	c.1499C>T	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789914	0.70337	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.25414	1.8	5.46	5.46	0.80206	LMBR1-like membrane protein (1);	0.281986	0.35677	N	0.003046	T	0.30448	0.0765	M	0.73217	2.22	0.48087	D	0.999583	B	0.31752	0.338	B	0.32980	0.156	T	0.05402	-1.0887	10	0.39692	T	0.17	-3.5911	12.6353	0.56679	0.0757:0.0:0.9243:0.0	.	500	Q68DH5	LMBD2_HUMAN	L	500;394	ENSP00000296603:S500L	ENSP00000296603:S500L	S	-	2	0	LMBRD2	36150917	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.453000	0.80700	2.565000	0.86533	0.650000	0.86243	TCA		PASS	0.338	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		11	74	11	74	---	---	---	---
NUP155	9631	broad.mit.edu	37	5	37293071	37293071	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:37293071C>G	ENST00000231498.3	-	34	4150	c.3947G>C	c.(3946-3948)aGa>aCa	p.R1316T	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Missense_Mutation_p.R1252T|NUP155_ENST00000381843.2_Missense_Mutation_p.R1257T	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1316					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.R1316T(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTCTTCATTCTGTTCCAGAA	0.313																																						uc003jku.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3946-3948)AGA>ACA		nucleoporin 155kDa isoform 1							71.0	81.0	78.0					5																	37293071		2202	4290	6492	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37293071C>G	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3947G>C	5.37:g.37293071C>G	ENSP00000231498:p.Arg1316Thr					NUP155_uc003jkt.1_Missense_Mutation_p.R1257T|NUP155_uc010iuz.1_Missense_Mutation_p.R1252T	p.R1316T	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		34	4065	-	all_lung(31;0.000137)		1316					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.3947G>C	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348751	0.41599	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.75821	-0.97;-0.97;-0.97	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	L	0.44542	1.39	0.53005	D	0.999965	P;B	0.41597	0.756;0.038	B;B	0.41236	0.351;0.024	T	0.62167	-0.6911	10	0.13108	T	0.6	.	13.5571	0.61765	0.0:0.9249:0.0:0.0751	.	1252;1316	E9PF10;O75694	.;NU155_HUMAN	T	1316;1257;1278;1252	ENSP00000231498:R1316T;ENSP00000371265:R1257T;ENSP00000422019:R1252T	ENSP00000231498:R1316T	R	-	2	0	NUP155	37328828	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.117000	0.64667	2.615000	0.88500	0.586000	0.80456	AGA		PASS	0.313	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		66	157	66	157	---	---	---	---
WDR70	55100	broad.mit.edu	37	5	37723010	37723010	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:37723010C>T	ENST00000265107.4	+	15	1727	c.1571C>T	c.(1570-1572)aCt>aTt	p.T524I		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	524							enzyme binding (GO:0019899)	p.T524I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAGCTGAGACTCTAACTCAG	0.403																																						uc003jkv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1570-1572)ACT>ATT		WD repeat domain 70							154.0	145.0	148.0					5																	37723010		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37723010C>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1571C>T	5.37:g.37723010C>T	ENSP00000265107:p.Thr524Ile						p.T524I	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		15	1629	+	all_lung(31;0.000285)		524					Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.1571C>T	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751725	0.49362	.	.	ENSG00000082068	ENST00000265107	T	0.67698	-0.28	6.03	6.03	0.97812	.	0.057060	0.64402	D	0.000002	T	0.53867	0.1823	N	0.17082	0.46	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.45323	-0.9269	10	0.20519	T	0.43	-34.9402	20.5568	0.99304	0.0:1.0:0.0:0.0	.	524	Q9NW82	WDR70_HUMAN	I	524	ENSP00000265107:T524I	ENSP00000265107:T524I	T	+	2	0	WDR70	37758767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.226000	0.78060	2.861000	0.98227	0.655000	0.94253	ACT		PASS	0.403	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		12	144	12	144	---	---	---	---
PLCXD3	345557	broad.mit.edu	37	5	41510613	41510613	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:41510613C>T	ENST00000377801.3	-	1	90	c.16G>A	c.(16-18)Ggg>Agg	p.G6R	PLCXD3_ENST00000328457.3_Missense_Mutation_p.G6R			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	6					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.G6R(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCGTTTTTCCCCTGAGACGAG	0.607																																						uc003jmm.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(16-18)GGG>AGG		phosphatidylinositol-specific phospholipase C, X							47.0	39.0	42.0					5																	41510613		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41510613C>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.16G>A	5.37:g.41510613C>T	ENSP00000367032:p.Gly6Arg						p.G6R	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			1	118	-			6					A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.16G>A	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865486	0.91511	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	4.57	4.57	0.56435	.	0.115496	0.64402	D	0.000019	T	0.64951	0.2645	L	0.39898	1.24	0.58432	D	0.999991	D	0.76494	0.999	D	0.72982	0.979	T	0.57670	-0.7771	9	0.11485	T	0.65	-7.6642	16.2935	0.82761	0.0:1.0:0.0:0.0	.	6	Q63HM9	PLCX3_HUMAN	R	6	.	ENSP00000333751:G6R	G	-	1	0	PLCXD3	41546370	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.621000	0.74228	2.387000	0.81309	0.555000	0.69702	GGG		PASS	0.607	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		5	40	5	40	---	---	---	---
ADAMTS6	11174	broad.mit.edu	37	5	64520828	64520828	+	IGR	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:64520828C>T								ADAMTS6 (26236 upstream) : ADAMTS6 (72206 downstream)														p.R705K(1)									GACTCGACATCTATCTTCCCT	0.443																																						uc003jtp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2113-2115)AGA>AAA		ADAM metallopeptidase with thrombospondin type 1							127.0	105.0	113.0					5																	64520828		2203	4300	6503	SO:0001628	intergenic_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64520828C>T																													5.37:g.64520828C>T						ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.R326K	p.R705K	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	17	2928	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	705						Missense_Mutation	SNP		37	c.2114G>A		.	.	.	.	.	.	.	.	.	.	C	15.11	2.734809	0.48939	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680	T;T	0.67345	-0.26;-0.26	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.38558	0.1045	N	0.01454	-0.855	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.49466	-0.8937	10	0.02654	T	1	.	19.5212	0.95185	0.0:1.0:0.0:0.0	.	705;705	D6R9L6;Q9UKP5	.;ATS6_HUMAN	K	705;655;705	ENSP00000370443:R705K;ENSP00000423551:R705K	ENSP00000261306:R655K	R	-	2	0	ADAMTS6	64556584	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.712000	0.68407	2.609000	0.88269	0.557000	0.71058	AGA	0	PASS	0.443									43	44	43	44	---	---	---	---
ADAMTS6	11174	broad.mit.edu	37	5	64766952	64766952	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:64766952G>C	ENST00000536360.1	-	3	928	c.115C>G	c.(115-117)Ctt>Gtt	p.L39V				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	39						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L39V(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TAGTGTTCAAGATAAGTCAGG	0.358																																						uc003jtp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(115-117)CTT>GTT		ADAM metallopeptidase with thrombospondin type 1							53.0	52.0	52.0					5																	64766952		2199	4299	6498	SO:0001583	missense	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64766952G>C	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.115C>G	5.37:g.64766952G>C	ENSP00000440995:p.Leu39Val					ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Translation_Start_Site	p.L39V	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	3	929	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	39					Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	ENST00000536360.1	37	c.115C>G		.	.	.	.	.	.	.	.	.	.	G	18.53	3.643637	0.67244	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	T;T;T	0.61980	0.19;0.28;0.06	5.36	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	L	0.34521	1.04	0.58432	D	0.999996	D	0.89917	1.0	D	0.71414	0.973	T	0.72597	-0.4245	10	0.72032	D	0.01	.	14.0068	0.64468	0.0727:0.0:0.9273:0.0	.	39	Q9UKP5	ATS6_HUMAN	V	39	ENSP00000370443:L39V;ENSP00000423551:L39V;ENSP00000440995:L39V	ENSP00000261306:L39V	L	-	1	0	ADAMTS6	64802708	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	8.975000	0.93437	1.395000	0.46643	0.478000	0.44815	CTT		PASS	0.358	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		5	92	5	92	---	---	---	---
MAST4	375449	broad.mit.edu	37	5	66055606	66055606	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:66055606C>A	ENST00000403625.2	+	2	728	c.433C>A	c.(433-435)Cct>Act	p.P145T	MAST4_ENST00000406039.1_Missense_Mutation_p.P145T|MAST4_ENST00000406374.1_Missense_Mutation_p.P145T|MAST4_ENST00000478569.1_3'UTR|MAST4_ENST00000404260.3_Missense_Mutation_p.P145T	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	145						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.P145T(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGCTTCTGGCCCTGGAAAATC	0.542																																						uc003jur.3																			1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(433-435)CCT>ACT		microtubule associated serine/threonine kinase							86.0	82.0	83.0					5																	66055606		1925	4144	6069	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66055606C>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.433C>A	5.37:g.66055606C>A	ENSP00000385727:p.Pro145Thr					MAST4_uc010iwz.2_Missense_Mutation_p.P145T	p.P145T	NM_198828	NP_942123	O15021	MAST4_HUMAN		Lung(70;0.011)	2	741	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	145					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.433C>A	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	3.709	-0.059979	0.07317	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000406374;ENST00000406039;ENST00000432817	T;T;T;T;T	0.65364	-0.15;-0.15;1.57;1.58;0.98	4.89	3.12	0.35913	.	0.525769	0.17666	N	0.166131	T	0.34600	0.0903	N	0.03154	-0.405	0.09310	N	0.999992	P;B	0.38827	0.649;0.372	B;B	0.40940	0.344;0.116	T	0.27502	-1.0072	10	0.08837	T	0.75	.	8.136	0.31054	0.0:0.7595:0.0:0.2405	.	145;145	E7EX28;O15021-4	.;.	T	145;145;145;145;17	ENSP00000385048:P145T;ENSP00000385727:P145T;ENSP00000385088:P145T;ENSP00000384547:P145T;ENSP00000413573:P17T	ENSP00000385727:P145T	P	+	1	0	MAST4	66091362	0.031000	0.19500	0.399000	0.26333	0.997000	0.91878	1.972000	0.40540	0.679000	0.31345	0.655000	0.94253	CCT		PASS	0.542	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			4	84	4	84	---	---	---	---
ARHGEF28	64283	broad.mit.edu	37	5	73163738	73163738	+	Silent	SNP	C	C	T	rs369841940		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:73163738C>T	ENST00000426542.2	+	18	2210	c.2190C>T	c.(2188-2190)tcC>tcT	p.S730S	ARHGEF28_ENST00000545377.1_Silent_p.S730S|ARHGEF28_ENST00000513042.2_Silent_p.S730S|ARHGEF28_ENST00000287898.5_Silent_p.S730S|ARHGEF28_ENST00000296799.4_Silent_p.S417S|ARHGEF28_ENST00000296794.6_Silent_p.S730S|ARHGEF28_ENST00000437974.1_Silent_p.S730S			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	730					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)	p.S730S(2)									CTGGTCTCTCCTTGCACCCTT	0.493																																						uc011csq.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(2188-2190)TCC>TCT		Rho-guanine nucleotide exchange factor		C	,	0,3886		0,0,1943	109.0	102.0	104.0		2190,2190	-1.8	0.0	5		104	1,8289		0,1,4144	no	coding-synonymous,coding-synonymous	RGNEF	NM_001080479.2,NM_001177693.1	,	0,1,6087	TT,TC,CC		0.0121,0.0,0.0082	,	730/1732,730/1706	73163738	1,12175	1943	4145	6088	SO:0001819	synonymous_variant	64283				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	g.chr5:73163738C>T		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.2190C>T	5.37:g.73163738C>T						RGNEF_uc003kcx.2_Silent_p.S730S|RGNEF_uc010izf.2_Silent_p.S730S|RGNEF_uc011csr.1_Silent_p.S417S	p.S730S	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	18	2201	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	730					B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Silent	SNP	ENST00000426542.2	37	c.2190C>T	CCDS54870.1																																																																																				PASS	0.493	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			39	67	39	67	---	---	---	---
POC5	134359	broad.mit.edu	37	5	74986241	74986241	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:74986241C>G	ENST00000428202.2	-	8	1131	c.942G>C	c.(940-942)caG>caC	p.Q314H	POC5_ENST00000510798.1_Missense_Mutation_p.Q197H|POC5_ENST00000380475.2_Missense_Mutation_p.Q197H|POC5_ENST00000446329.2_Missense_Mutation_p.Q289H|POC5_ENST00000514838.2_Missense_Mutation_p.Q286H	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	314					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.Q314H(1)|p.Q288H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CATTGGAAATCTGGATACAAA	0.368																																						uc003keh.3																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(940-942)CAG>CAC		proteome of centriole 5 isoform 1							84.0	77.0	79.0					5																	74986241		1847	4096	5943	SO:0001583	missense	134359				cell cycle	centriole		g.chr5:74986241C>G	AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.942G>C	5.37:g.74986241C>G	ENSP00000410216:p.Gln314His					POC5_uc010izu.2_Missense_Mutation_p.Q197H|POC5_uc003keg.3_Missense_Mutation_p.Q289H	p.Q314H	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN			8	1139	-			314					B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	c.942G>C	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904233	0.33628	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329	T;T;T;T;T	0.49720	1.77;1.36;0.77;0.77;1.77	5.89	4.08	0.47627	.	0.250497	0.44285	N	0.000480	T	0.42200	0.1192	M	0.68317	2.08	0.41859	D	0.990217	B;B;B	0.25390	0.125;0.009;0.009	B;B;B	0.23419	0.046;0.028;0.022	T	0.36138	-0.9760	10	0.48119	T	0.1	-9.0513	5.4637	0.16632	0.1439:0.6419:0.0:0.2142	.	197;314;289	Q8NA72-2;Q8NA72;Q8NA72-3	.;POC5_HUMAN;.	H	314;286;197;197;289	ENSP00000410216:Q314H;ENSP00000420971:Q286H;ENSP00000369842:Q197H;ENSP00000426796:Q197H;ENSP00000399481:Q289H	ENSP00000369842:Q197H	Q	-	3	2	POC5	75021997	0.957000	0.32711	0.997000	0.53966	0.949000	0.60115	0.085000	0.14912	0.778000	0.33520	0.655000	0.94253	CAG		PASS	0.368	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408		14	24	14	24	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79029970	79029970	+	Silent	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:79029970A>T	ENST00000446378.2	+	2	5413	c.5382A>T	c.(5380-5382)acA>acT	p.T1794T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1794					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.T1794T(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTGAAGAAACAGGCCACCCAA	0.398																																						uc003kgc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|pancreas(2)|lung(1)	9						c.(5380-5382)ACA>ACT		cardiomyopathy associated 5							79.0	76.0	77.0					5																	79029970		1870	4100	5970	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79029970A>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5382A>T	5.37:g.79029970A>T							p.T1794T	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	5454	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1794					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.5382A>T	CCDS47238.1																																																																																				PASS	0.398	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		36	69	36	69	---	---	---	---
RASA1	5921	broad.mit.edu	37	5	86679528	86679528	+	Splice_Site	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:86679528A>G	ENST00000274376.6	+	21	3254		c.e21-1		RASA1_ENST00000506290.1_Splice_Site|RASA1_ENST00000456692.2_Splice_Site|RASA1_ENST00000512763.1_Splice_Site	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1						blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.?(2)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CCTCCCATTCAGTGGTTTTGT	0.294																																						uc003kiw.2																			2	Unknown(2)		lung(2)	upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.e21-2		RAS p21 protein activator 1 isoform 1							59.0	55.0	57.0					5																	86679528		2203	4300	6503	SO:0001630	splice_region_variant	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86679528A>G		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2691-1A>G	5.37:g.86679528A>G						RASA1_uc010jav.2_Splice_Site|RASA1_uc003kix.2_Splice_Site_p.S720_splice|RASA1_uc011ctv.1_Splice_Site_p.S730_splice|RASA1_uc011ctw.1_Splice_Site_p.S731_splice|RASA1_uc010jaw.2_Splice_Site_p.S719_splice	p.S897_splice	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	21	2809	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)						B2R6W3|Q9UDI1	Splice_Site	SNP	ENST00000274376.6	37	c.2691_splice	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.803988	0.90623	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RASA1	86715284	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.235000	0.95353	2.367000	0.80283	0.528000	0.53228	.		PASS	0.294	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890	Intron	31	37	31	37	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89930986	89930986	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:89930986G>T	ENST00000405460.2	+	10	1991	c.1895G>T	c.(1894-1896)aGa>aTa	p.R632I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	632					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R632I(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATAAGCCCTAGATTTGGGGAA	0.343																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(1894-1896)AGA>ATA		G protein-coupled receptor 98 precursor							76.0	71.0	73.0					5																	89930986		1816	4078	5894	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89930986G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1895G>T	5.37:g.89930986G>T	ENSP00000384582:p.Arg632Ile					GPR98_uc003kjt.2_5'UTR	p.R632I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	10	1991	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	632			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.1895G>T	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	30|30	5.050028|5.050028	0.93740|0.93740	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.32515|.	1.45|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77110|.	0.4082|.	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|.	0.76830|.	-0.2814|.	10|.	0.72032|.	D|.	0.01|.	.|.	19.1215|19.1215	0.93365|0.93365	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	632|.	Q8WXG9|.	GPR98_HUMAN|.	I|Y	632|220	ENSP00000384582:R632I|.	ENSP00000296619:R632I|.	R|X	+|+	2|3	0|2	GPR98|GPR98	89966742|89966742	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.972000|5.972000	0.70448|0.70448	2.575000|2.575000	0.86900|0.86900	0.655000|0.655000	0.94253|0.94253	AGA|TAG		PASS	0.343	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		5	134	5	134	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90149175	90149175	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:90149175G>A	ENST00000405460.2	+	80	17375	c.17279G>A	c.(17278-17280)gGa>gAa	p.G5760E	GPR98_ENST00000425867.2_Missense_Mutation_p.G1421E	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5760					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.G5760E(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAAATCAATGGACACAAGTTT	0.408																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(17278-17280)GGA>GAA		G protein-coupled receptor 98 precursor							109.0	102.0	104.0					5																	90149175		1863	4108	5971	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90149175G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17279G>A	5.37:g.90149175G>A	ENSP00000384582:p.Gly5760Glu					GPR98_uc003kjt.2_Missense_Mutation_p.G3466E|GPR98_uc003kjw.2_Missense_Mutation_p.G1421E	p.G5760E	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	80	17375	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5760			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.17279G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449349	0.84101	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.41065	1.05;1.01	5.4	5.4	0.78164	.	0.047909	0.85682	D	0.000000	T	0.65375	0.2685	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.989;0.993;0.995	T	0.64837	-0.6313	9	.	.	.	.	19.1637	0.93544	0.0:0.0:1.0:0.0	.	1421;5760;1421	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	E	5760;5760;1421	ENSP00000384582:G5760E;ENSP00000392618:G1421E	.	G	+	2	0	GPR98	90184931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.750000	0.68712	2.504000	0.84457	0.655000	0.94253	GGA		PASS	0.408	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		116	102	116	102	---	---	---	---
ELL2	22936	broad.mit.edu	37	5	95226858	95226858	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:95226858G>C	ENST00000237853.4	-	10	2059	c.1710C>G	c.(1708-1710)atC>atG	p.I570M	ELL2_ENST00000431061.2_Missense_Mutation_p.I320M	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	570					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.I570M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CATCTAGTTTGATAAATCTTC	0.403																																						uc003klr.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1708-1710)ATC>ATG		elongation factor, RNA polymerase II, 2							203.0	195.0	198.0					5																	95226858		2203	4297	6500	SO:0001583	missense	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95226858G>C	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1710C>G	5.37:g.95226858G>C	ENSP00000237853:p.Ile570Met						p.I570M	NM_012081	NP_036213	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	10	2060	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	570					B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	c.1710C>G	CCDS4080.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.943|9.943	1.218066|1.218066	0.22373|0.22373	.|.	.|.	ENSG00000118985|ENSG00000118985	ENST00000237853;ENST00000431061|ENST00000508757	T;T|.	0.22743|.	1.94;1.94|.	6.16|6.16	1.79|1.79	0.24919|0.24919	Occludin/RNA polymerase II elongation factor, ELL domain (1);|.	0.195222|.	0.56097|.	D|.	0.000034|.	T|.	0.09291|.	0.0229|.	N|N	0.02830|0.02830	-0.485|-0.485	0.28175|0.28175	N|N	0.92842|0.92842	B|.	0.24258|.	0.1|.	B|.	0.25405|.	0.06|.	T|.	0.24799|.	-1.0150|.	10|.	0.48119|.	T|.	0.1|.	-0.1834|-0.1834	1.6999|1.6999	0.02870|0.02870	0.2652:0.2414:0.3769:0.1165|0.2652:0.2414:0.3769:0.1165	.|.	570|.	O00472|.	ELL2_HUMAN|.	M|X	570;320|88	ENSP00000237853:I570M;ENSP00000399704:I320M|.	ENSP00000237853:I570M|.	I|S	-|-	3|2	3|0	ELL2|ELL2	95252614|95252614	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.551000|0.551000	0.35334|0.35334	0.973000|0.973000	0.29422|0.29422	0.666000|0.666000	0.31087|0.31087	-0.175000|-0.175000	0.13238|0.13238	ATC|TCA		PASS	0.403	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		28	438	28	438	---	---	---	---
ST8SIA4	7903	broad.mit.edu	37	5	100147594	100147594	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:100147594C>G	ENST00000231461.5	-	5	1347	c.1037G>C	c.(1036-1038)aGa>aCa	p.R346T		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	346					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.R346T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TAGAGCTCCTCTATTATGTAG	0.318																																						uc003knk.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(1036-1038)AGA>ACA		ST8 alpha-N-acetyl-neuraminide							131.0	119.0	123.0					5																	100147594		2203	4300	6503	SO:0001583	missense	7903				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr5:100147594C>G	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.1037G>C	5.37:g.100147594C>G	ENSP00000231461:p.Arg346Thr						p.R346T	NM_005668	NP_005659	Q92187	SIA8D_HUMAN		COAD - Colon adenocarcinoma(37;0.00402)	5	1365	-		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)	346			Lumenal (Potential).		A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	c.1037G>C	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957131	0.53293	.	.	ENSG00000113532	ENST00000231461	T	0.29397	1.57	5.62	4.74	0.60224	.	0.065556	0.64402	D	0.000004	T	0.22859	0.0552	L	0.35593	1.075	0.80722	D	1	B	0.25206	0.12	B	0.27262	0.078	T	0.04203	-1.0969	10	0.35671	T	0.21	-7.1363	9.3761	0.38283	0.0:0.8431:0.0:0.1569	.	346	Q92187	SIA8D_HUMAN	T	346	ENSP00000231461:R346T	ENSP00000231461:R346T	R	-	2	0	ST8SIA4	100175493	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	2.072000	0.41510	2.646000	0.89796	0.655000	0.94253	AGA		PASS	0.318	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		10	99	10	99	---	---	---	---
PPIP5K2	23262	broad.mit.edu	37	5	102465360	102465360	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:102465360C>T	ENST00000358359.3	+	2	576	c.67C>T	c.(67-69)Cat>Tat	p.H23Y	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.H23Y|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.H23Y	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	23					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.H23Y(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAATTATCGACATTTCTTCCA	0.363																																						uc003kod.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(67-69)CAT>TAT		Histidine acid phosphatase domain containing 1							111.0	106.0	108.0					5																	102465360		2203	4300	6503	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102465360C>T	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.67C>T	5.37:g.102465360C>T	ENSP00000351126:p.His23Tyr					PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.H23Y|PPIP5K2_uc010jbo.1_Intron	p.H23Y	NM_015216	NP_056031	O43314	VIP2_HUMAN			2	586	+			23					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.67C>T		.	.	.	.	.	.	.	.	.	.	C	15.86	2.957267	0.53400	.	.	ENSG00000145725	ENST00000515845;ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.13778	2.56;2.56;2.56	5.75	5.75	0.90469	.	0.065818	0.64402	D	0.000007	T	0.12263	0.0298	L	0.36672	1.1	0.24952	N	0.991785	B;B	0.29508	0.037;0.246	B;B	0.24701	0.043;0.055	T	0.16217	-1.0410	10	0.30854	T	0.27	.	14.9063	0.70721	0.0:0.8576:0.1424:0.0	.	23;23	O43314-2;O43314	.;VIP2_HUMAN	Y	23	ENSP00000313070:H23Y;ENSP00000351126:H23Y;ENSP00000416016:H23Y	ENSP00000313070:H23Y	H	+	1	0	PPIP5K2	102493259	0.721000	0.28007	0.980000	0.43619	0.968000	0.65278	2.443000	0.44881	2.878000	0.98634	0.650000	0.86243	CAT		PASS	0.363	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		9	72	9	72	---	---	---	---
PPIP5K2	23262	broad.mit.edu	37	5	102522026	102522026	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:102522026C>T	ENST00000358359.3	+	27	3684	c.3175C>T	c.(3175-3177)Cac>Tac	p.H1059Y	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.H1059Y|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.H1059Y	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1059					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.H1059Y(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATCAGGGTCTCACTGTGCGGG	0.478																																						uc003kod.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3175-3177)CAC>TAC		Histidine acid phosphatase domain containing 1							105.0	98.0	100.0					5																	102522026		2203	4300	6503	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102522026C>T	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.3175C>T	5.37:g.102522026C>T	ENSP00000351126:p.His1059Tyr					PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.H1059Y|PPIP5K2_uc003kof.2_Intron	p.H1059Y	NM_015216	NP_056031	O43314	VIP2_HUMAN			27	3694	+			1059					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.3175C>T		.	.	.	.	.	.	.	.	.	.	C	18.26	3.585402	0.66105	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.14391	2.51;2.51;2.51	5.81	5.81	0.92471	.	0.084433	0.51477	D	0.000089	T	0.15305	0.0369	L	0.29908	0.895	0.45580	D	0.99852	B;B	0.34372	0.451;0.323	B;B	0.36464	0.225;0.112	T	0.02533	-1.1145	10	0.48119	T	0.1	-8.8921	20.0795	0.97766	0.0:1.0:0.0:0.0	.	1059;1059	O43314-2;O43314	.;VIP2_HUMAN	Y	1059;1059;1074;1059	ENSP00000313070:H1059Y;ENSP00000351126:H1059Y;ENSP00000416016:H1059Y	ENSP00000313070:H1059Y	H	+	1	0	PPIP5K2	102549925	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.747000	0.94245	0.650000	0.86243	CAC		PASS	0.478	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		5	70	5	70	---	---	---	---
APC	324	broad.mit.edu	37	5	112178500	112178500	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:112178500G>C	ENST00000457016.1	+	16	7589	c.7209G>C	c.(7207-7209)caG>caC	p.Q2403H	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.Q2403H|APC_ENST00000508376.2_Missense_Mutation_p.Q2403H			P25054	APC_HUMAN	adenomatous polyposis coli	2403	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.Q2403H(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GACTAAATCAGATGAATAATG	0.378		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		2	Substitution - Missense(1)|Unknown(1)	p.?(1)	lung(1)|skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(7207-7209)CAG>CAC		adenomatous polyposis coli							71.0	67.0	68.0					5																	112178500		2202	4300	6502	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112178500G>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.7209G>C	5.37:g.112178500G>C	ENSP00000413133:p.Gln2403His	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.Q2385H|APC_uc003kpz.3_Missense_Mutation_p.Q2403H|APC_uc003kpy.3_Missense_Mutation_p.Q2403H|APC_uc010jbz.2_Missense_Mutation_p.Q2120H|APC_uc010jca.2_Missense_Mutation_p.Q1703H	p.Q2403H	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	7589	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	2403			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.7209G>C	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946602	0.34377	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.83914	-1.78;-1.78;-1.78	5.91	3.13	0.36017	Adenomatous polyposis coli protein basic domain (1);	0.000000	0.85682	D	0.000000	D	0.85936	0.5813	L	0.51422	1.61	0.43426	D	0.995589	D;D	0.71674	0.998;0.998	D;D	0.83275	0.996;0.996	T	0.82309	-0.0521	9	.	.	.	-7.8182	7.4768	0.27380	0.4844:0.0:0.5156:0.0	.	2405;2403	Q4LE70;P25054	.;APC_HUMAN	H	2403	ENSP00000413133:Q2403H;ENSP00000257430:Q2403H;ENSP00000427089:Q2403H	.	Q	+	3	2	APC	112206399	1.000000	0.71417	0.999000	0.59377	0.914000	0.54420	1.559000	0.36320	0.383000	0.24910	0.655000	0.94253	CAG		PASS	0.378	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		14	116	14	116	---	---	---	---
MCC	4163	broad.mit.edu	37	5	112720775	112720775	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:112720775C>G	ENST00000408903.3	-	2	720	c.305G>C	c.(304-306)cGa>cCa	p.R102P	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R102P(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CCTAATTTCTCGAACAAGCTG	0.463																																						uc003kql.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(304-306)CGA>CCA		mutated in colorectal cancers isoform 1							147.0	136.0	140.0					5																	112720775		1887	4120	6007	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112720775C>G		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.305G>C	5.37:g.112720775C>G	ENSP00000386227:p.Arg102Pro					MCC_uc003kqk.3_RNA	p.R102P	NM_001085377	NP_001078846	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	2	721	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	Error:Variant_position_missing_in_P23508_after_alignment					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000408903.3	37	c.305G>C	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	C	8.775	0.926851	0.18056	.	.	ENSG00000171444	ENST00000408903	T	0.34472	1.36	4.7	3.83	0.44106	.	0.141093	0.29892	N	0.010934	T	0.26011	0.0634	.	.	.	0.19300	N	0.999975	P	0.37731	0.607	B	0.37047	0.24	T	0.09796	-1.0658	9	0.33940	T	0.23	-1.7086	9.5803	0.39484	0.0:0.8237:0.0:0.1763	.	102	P23508-2	.	P	102	ENSP00000386227:R102P	ENSP00000386227:R102P	R	-	2	0	MCC	112748674	0.747000	0.28283	0.771000	0.31576	0.700000	0.40528	0.231000	0.17872	1.292000	0.44672	0.650000	0.86243	CGA		PASS	0.463	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		46	232	46	232	---	---	---	---
CCDC112	153733	broad.mit.edu	37	5	114611184	114611184	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:114611184G>A	ENST00000512261.1	-	7	814	c.398C>T	c.(397-399)tCa>tTa	p.S133L	CCDC112_ENST00000506442.1_Missense_Mutation_p.S133L|CCDC112_ENST00000395557.4_Missense_Mutation_p.S133L|CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000379611.5_Missense_Mutation_p.S216L			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	133								p.S216L(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		AACTTTGCTTGAGATTGCTCT	0.403																																						uc003kqy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(397-399)TCA>TTA		coiled-coil domain containing 112 isoform 2							136.0	138.0	137.0					5																	114611184		2202	4300	6502	SO:0001583	missense	153733							g.chr5:114611184G>A	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.398C>T	5.37:g.114611184G>A	ENSP00000423712:p.Ser133Leu					CCDC112_uc003kqz.2_Missense_Mutation_p.S216L|CCDC112_uc003kra.2_Missense_Mutation_p.S216L	p.S133L	NM_152549	NP_689762	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	6	911	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	133					Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	c.398C>T	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296674	0.23650	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.24908	1.83;2.12;2.13;2.12	5.95	4.18	0.49190	.	0.312733	0.34986	N	0.003530	T	0.14098	0.0341	N	0.19112	0.55	0.23988	N	0.996258	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.004;0.004;0.003	T	0.17623	-1.0363	10	0.23302	T	0.38	-2.1923	7.2047	0.25901	0.1477:0.141:0.7113:0.0	.	133;216;133	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	L	216;133;133;133	ENSP00000368931:S216L;ENSP00000423712:S133L;ENSP00000424876:S133L;ENSP00000378925:S133L	ENSP00000368931:S216L	S	-	2	0	CCDC112	114639083	0.026000	0.19158	0.501000	0.27601	0.994000	0.84299	1.121000	0.31283	1.521000	0.48983	0.650000	0.86243	TCA		PASS	0.403	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		50	255	50	255	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118485784	118485784	+	Nonsense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:118485784C>G	ENST00000311085.8	+	18	4342	c.4262C>G	c.(4261-4263)tCa>tGa	p.S1421*	DMXL1_ENST00000539542.1_Nonsense_Mutation_p.S1421*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1421								p.S1421*(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGCTGTTACTCATCTTTGGAG	0.343																																						uc003ksd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(4261-4263)TCA>TGA		Dmx-like 1							94.0	93.0	94.0					5																	118485784		2202	4300	6502	SO:0001587	stop_gained	1657							g.chr5:118485784C>G	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4262C>G	5.37:g.118485784C>G	ENSP00000309690:p.Ser1421*					DMXL1_uc010jcl.1_Nonsense_Mutation_p.S1421*	p.S1421*	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	18	4443	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1421						Nonsense_Mutation	SNP	ENST00000311085.8	37	c.4262C>G	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	42	9.314410	0.99133	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	.	.	.	4.9	4.9	0.64082	.	0.247891	0.33457	N	0.004896	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-10.6537	18.6274	0.91346	0.0:1.0:0.0:0.0	.	.	.	.	X	1421	.	ENSP00000309690:S1421X	S	+	2	0	DMXL1	118513683	0.992000	0.36948	0.999000	0.59377	0.989000	0.77384	2.789000	0.47813	2.709000	0.92574	0.563000	0.77884	TCA		PASS	0.343	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		44	186	44	186	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118503367	118503367	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:118503367G>C	ENST00000311085.8	+	23	5286	c.5206G>C	c.(5206-5208)Gat>Cat	p.D1736H	DMXL1_ENST00000539542.1_Missense_Mutation_p.D1736H	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1736								p.D1736H(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTCTGAATTTGATACATCTGC	0.303																																						uc003ksd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(5206-5208)GAT>CAT		Dmx-like 1							49.0	51.0	50.0					5																	118503367		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118503367G>C	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.5206G>C	5.37:g.118503367G>C	ENSP00000309690:p.Asp1736His					DMXL1_uc010jcl.1_Missense_Mutation_p.D1736H	p.D1736H	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	23	5387	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1736						Missense_Mutation	SNP	ENST00000311085.8	37	c.5206G>C	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025812	0.93518	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.11712	2.76;2.75	5.86	5.86	0.93980	.	0.044608	0.85682	D	0.000000	T	0.34687	0.0906	M	0.72894	2.215	0.58432	D	0.999999	D;D	0.59357	0.985;0.978	P;D	0.65684	0.896;0.937	T	0.01228	-1.1412	10	0.87932	D	0	-21.6713	20.1996	0.98256	0.0:0.0:1.0:0.0	.	1736;1736	F5H269;Q9Y485	.;DMXL1_HUMAN	H	1736	ENSP00000309690:D1736H;ENSP00000439479:D1736H	ENSP00000309690:D1736H	D	+	1	0	DMXL1	118531266	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.776000	0.95493	0.650000	0.86243	GAT		PASS	0.303	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		24	76	24	76	---	---	---	---
PHAX	51808	broad.mit.edu	37	5	125952978	125952978	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:125952978C>G	ENST00000297540.4	+	4	1563	c.868C>G	c.(868-870)Ctg>Gtg	p.L290V		NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	290	Necessary for interaction with CBP80. {ECO:0000250}.|Sufficient for poly U RNA-binding.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)	p.L290V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						TGGAGTTTTTCTGAATCTCTT	0.378																																						uc003kua.1																			1	Substitution - Missense(1)		lung(1)		0						c.(868-870)CTG>GTG		RNA U, small nuclear RNA export adaptor							77.0	75.0	76.0					5																	125952978		2203	4300	6503	SO:0001583	missense	51808				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding	g.chr5:125952978C>G	AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"""RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"""	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.868C>G	5.37:g.125952978C>G	ENSP00000297540:p.Leu290Val						p.L290V	NM_032177	NP_115553	Q9H814	PHAX_HUMAN			4	890	+			290			Necessary for interaction with CBP80 (By similarity).|Sufficient for poly U RNA-binding.		Q9H8W1	Missense_Mutation	SNP	ENST00000297540.4	37	c.868C>G	CCDS4138.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474472	0.84640	.	.	ENSG00000164902	ENST00000297540	T	0.57436	0.4	5.73	5.73	0.89815	Phosphorylated adapter RNA export protein, RNA-binding domain (1);	0.000000	0.64402	D	0.000002	T	0.70701	0.3254	M	0.83223	2.63	0.80722	D	1	D	0.64830	0.994	P	0.62885	0.908	T	0.74297	-0.3711	10	0.66056	D	0.02	-19.8151	11.2776	0.49176	0.0:0.8856:0.0:0.1144	.	290	Q9H814	PHAX_HUMAN	V	290	ENSP00000297540:L290V	ENSP00000297540:L290V	L	+	1	2	PHAX	125980877	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.878000	0.48515	2.721000	0.93114	0.655000	0.94253	CTG		PASS	0.378	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177		34	87	34	87	---	---	---	---
SLC12A2	6558	broad.mit.edu	37	5	127469886	127469886	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:127469886C>G	ENST00000262461.2	+	6	1407	c.1218C>G	c.(1216-1218)atC>atG	p.I406M	SLC12A2_ENST00000343225.4_Missense_Mutation_p.I406M	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	406					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.I406M(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	TAGATGAAATCAATGATATCC	0.318																																						uc003kus.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1216-1218)ATC>ATG		solute carrier family 12	Bumetanide(DB00887)|Potassium Chloride(DB00761)						137.0	149.0	145.0					5																	127469886		2203	4299	6502	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127469886C>G		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1218C>G	5.37:g.127469886C>G	ENSP00000262461:p.Ile406Met					SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.I406M	p.I406M	NM_001046	NP_001037	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	6	1382	+		all_cancers(142;0.0972)|Prostate(80;0.151)	406			Extracellular (Potential).		Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.1218C>G	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384740	0.25031	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.85629	-2.0;-2.01	4.94	3.92	0.45320	Amino acid permease domain (1);	0.161348	0.41294	D	0.000919	T	0.74015	0.3661	L	0.35341	1.055	0.46725	D	0.999173	B;B	0.23990	0.077;0.095	B;B	0.17979	0.012;0.02	T	0.68682	-0.5344	10	0.51188	T	0.08	.	4.7754	0.13176	0.0:0.5334:0.2333:0.2332	.	406;406	P55011-3;P55011	.;S12A2_HUMAN	M	406	ENSP00000262461:I406M;ENSP00000340878:I406M	ENSP00000262461:I406M	I	+	3	3	SLC12A2	127497785	0.971000	0.33674	1.000000	0.80357	0.999000	0.98932	0.102000	0.15272	1.075000	0.40932	0.655000	0.94253	ATC		PASS	0.318	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		57	187	57	187	---	---	---	---
CATSPER3	347732	broad.mit.edu	37	5	134345085	134345085	+	Missense_Mutation	SNP	G	G	A	rs372723476		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:134345085G>A	ENST00000282611.6	+	6	927	c.841G>A	c.(841-843)Gag>Aag	p.E281K		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	281					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.E281K(1)		NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTGAGCGAGAGCTGATGTT	0.547																																						uc003lag.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(841-843)GAG>AAG		cation channel, sperm associated 3							129.0	120.0	123.0					5																	134345085		2203	4300	6503	SO:0001583	missense	347732				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr5:134345085G>A	AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.841G>A	5.37:g.134345085G>A	ENSP00000282611:p.Glu281Lys						p.E281K	NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	909	+			281					Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	37	c.841G>A	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012400	0.35511	.	.	ENSG00000152705	ENST00000282611	D	0.97505	-4.41	5.07	2.07	0.26955	.	0.912123	0.09331	N	0.816822	D	0.94235	0.8149	L	0.56769	1.78	0.09310	N	1	B	0.17038	0.02	B	0.17979	0.02	D	0.86368	0.1721	10	0.37606	T	0.19	-5.5043	3.139	0.06448	0.0953:0.177:0.5448:0.1829	.	281	Q86XQ3	CTSR3_HUMAN	K	281	ENSP00000282611:E281K	ENSP00000282611:E281K	E	+	1	0	CATSPER3	134372984	0.890000	0.30428	0.007000	0.13788	0.001000	0.01503	2.067000	0.41461	0.784000	0.33661	-0.182000	0.12963	GAG		PASS	0.547	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		45	109	45	109	---	---	---	---
HSPA9	3313	broad.mit.edu	37	5	137906704	137906704	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:137906704C>T	ENST00000297185.3	-	4	480	c.355G>A	c.(355-357)Gct>Act	p.A119T		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	119					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.A119T(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CGCTTGGTAGCATAAAATGTA	0.458																																						uc003ldf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(355-357)GCT>ACT		heat shock 70kDa protein 9 precursor							131.0	123.0	125.0					5																	137906704		2203	4300	6503	SO:0001583	missense	3313				anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	g.chr5:137906704C>T	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.355G>A	5.37:g.137906704C>T	ENSP00000297185:p.Ala119Thr					HSPA9_uc011cyw.1_Missense_Mutation_p.A50T	p.A119T	NM_004134	NP_004125	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		4	463	-			119					B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	37	c.355G>A	CCDS4208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.625358|5.625358	0.96671|0.96671	.|.	.|.	ENSG00000113013|ENSG00000113013	ENST00000297185;ENST00000540484;ENST00000504810;ENST00000507886|ENST00000541333	T;T;T|.	0.17528|.	2.27;2.27;3.76|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88366|0.88366	0.6417|0.6417	H|H	0.96777|0.96777	3.88|3.88	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.97110|.	1.0;0.993|.	D|D	0.90941|0.90941	0.4797|0.4797	10|6	0.87932|0.49607	D|T	0|0.09	-14.5633|-14.5633	18.9986|18.9986	0.92824|0.92824	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	50;119|.	B7Z1V7;P38646|.	.;GRP75_HUMAN|.	T|I	119;105;50;50|88	ENSP00000297185:A119T;ENSP00000425598:A50T;ENSP00000423098:A50T|.	ENSP00000297185:A119T|ENSP00000438817:M88I	A|M	-|-	1|3	0|0	HSPA9|HSPA9	137934603|137934603	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.760000|7.760000	0.85248|0.85248	2.657000|2.657000	0.90304|0.90304	0.655000|0.655000	0.94253|0.94253	GCT|ATG		PASS	0.458	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		19	228	19	228	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139909089	139909089	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:139909089G>C	ENST00000360839.2	+	29	6712	c.6558G>C	c.(6556-6558)atG>atC	p.M2186I	ANKHD1_ENST00000544120.1_Missense_Mutation_p.M569I|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.M2186I|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Missense_Mutation_p.M2186I	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2186						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.M2186I(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACATTATGAATGGTTCTC	0.438																																						uc003lfs.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)	6						c.(6556-6558)ATG>ATC		ANKHD1-EIF4EBP3 protein							137.0	136.0	137.0					5																	139909089		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139909089G>C	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.6558G>C	5.37:g.139909089G>C	ENSP00000354085:p.Met2186Ile					ANKHD1_uc003lfr.2_Missense_Mutation_p.M2186I|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.M925I|ANKHD1_uc003lfw.2_Missense_Mutation_p.M824I|ANKHD1_uc010jfl.2_Missense_Mutation_p.M621I|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.M323I	p.M2186I	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		29	6682	+			2186					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.6558G>C	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.491|9.491	1.100666|1.100666	0.20552|0.20552	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996	ENST00000435794;ENST00000432301|ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000433049;ENST00000544120;ENST00000532219;ENST00000437495	.|T;T;T;T;T;T;T	.|0.64438	.|-0.05;-0.1;1.98;1.98;1.56;-0.1;0.97	5.06|5.06	4.2|4.2	0.49525|0.49525	.|.	.|0.046820	.|0.85682	.|D	.|0.000000	T|T	0.65811|0.65811	0.2727|0.2727	L|L	0.38531|0.38531	1.155|1.155	0.38708|0.38708	D|D	0.953156|0.953156	.|P;B;D;B;B;B	.|0.58970	.|0.949;0.063;0.984;0.005;0.0;0.214	.|D;B;P;B;B;B	.|0.63381	.|0.914;0.035;0.879;0.006;0.0;0.124	T|T	0.68183|0.68183	-0.5476|-0.5476	5|10	.|0.48119	.|T	.|0.1	.|.	9.9036|9.9036	0.41362|0.41362	0.1538:0.0:0.8462:0.0|0.1538:0.0:0.8462:0.0	.|.	.|569;616;569;2186;2186;2186	.|Q8IWG5;Q9H059;F6WFL0;E9PF56;Q8IWZ2;Q8IWZ3	.|.;.;.;.;.;ANKH1_HUMAN	Q|I	677;637|2186;2186;2186;842;708;569;2186;197	.|ENSP00000354085:M2186I;ENSP00000297183:M2186I;ENSP00000393204:M842I;ENSP00000390034:M708I;ENSP00000437687:M569I;ENSP00000432016:M2186I;ENSP00000396882:M197I	.|ENSP00000396882:M197I	E|M	+|+	1|3	0|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139889273|139889273	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	3.466000|3.466000	0.53071|0.53071	1.400000|1.400000	0.46741|0.46741	-0.236000|-0.236000	0.12185|0.12185	GAA|ATG		PASS	0.438	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		7	263	7	263	---	---	---	---
PCDHA12	56137	broad.mit.edu	37	5	140256033	140256033	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:140256033G>C	ENST00000398631.2	+	1	976	c.976G>C	c.(976-978)Ggg>Cgg	p.G326R	PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	326	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G326R(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTGATAAAGGGATTCCTTC	0.418																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2																			1	Substitution - Missense(1)		lung(1)		0						c.(976-978)GGG>CGG		protocadherin alpha 12 isoform 1 precursor							76.0	82.0	80.0					5																	140256033		2164	4280	6444	SO:0001583	missense	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140256033G>C	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.976G>C	5.37:g.140256033G>C	ENSP00000381628:p.Gly326Arg					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_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.G326R	p.G326R	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1103	+			326			Cadherin 3.|Extracellular (Potential).		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.976G>C	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047281	0.36085	.	.	ENSG00000251664	ENST00000398631	T	0.04502	3.61	4.68	3.81	0.43845	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.38506	0.1043	H	0.99555	4.625	0.40741	D	0.98283	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.64334	-0.6432	9	0.87932	D	0	.	12.8554	0.57882	0.0795:0.0:0.9205:0.0	.	326;326	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	R	326	ENSP00000381628:G326R	ENSP00000381628:G326R	G	+	1	0	PCDHA12	140236217	1.000000	0.71417	0.961000	0.40146	0.009000	0.06853	3.219000	0.51200	1.089000	0.41292	0.655000	0.94253	GGG		PASS	0.418	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		107	94	107	94	---	---	---	---
PCDHB3	56132	broad.mit.edu	37	5	140482129	140482129	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:140482129G>A	ENST00000231130.2	+	1	1896	c.1896G>A	c.(1894-1896)gaG>gaA	p.E632E	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	632	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E632E(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGAGCGAGCGCGACGCGG	0.697																																						uc003lio.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1894-1896)GAG>GAA		protocadherin beta 3 precursor							26.0	28.0	27.0					5																	140482129		2079	4040	6119	SO:0001819	synonymous_variant	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482129G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1896G>A	5.37:g.140482129G>A						uc003lin.2_5'Flank	p.E632E	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1896	+			632			Extracellular (Potential).|Cadherin 6.		B2R8P2	Silent	SNP	ENST00000231130.2	37	c.1896G>A	CCDS4245.1																																																																																				PASS	0.697	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		55	60	55	60	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140589877	140589877	+	Silent	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:140589877C>A	ENST00000239450.2	+	1	1587	c.1398C>A	c.(1396-1398)ccC>ccA	p.P466P	PCDHB12_ENST00000541609.1_Silent_p.P129P	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	466	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P466P(1)		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)			ACAACAGCCCCGCCCTGCACA	0.642																																						uc003liz.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1396-1398)CCC>CCA		protocadherin beta 12 precursor							93.0	92.0	92.0					5																	140589877		2203	4300	6503	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589877C>A	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.1398C>A	5.37:g.140589877C>A						PCDHB12_uc011dak.1_Silent_p.P129P	p.P466P	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1587	+			466			Extracellular (Potential).|Cadherin 5.		B4DDU1	Silent	SNP	ENST00000239450.2	37	c.1398C>A	CCDS4254.1																																																																																				PASS	0.642	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		66	63	66	63	---	---	---	---
PCDHGA4	56111	broad.mit.edu	37	5	140735937	140735937	+	Silent	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:140735937G>T	ENST00000571252.1	+	1	1170	c.1170G>T	c.(1168-1170)ctG>ctT	p.L390L	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	390	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			cagataatctgccattcacac	0.418																																						uc003ljq.1																			0					0						c.(1168-1170)CTG>CTT		protocadherin gamma subfamily A, 4 isoform 1							32.0	31.0	31.0					5																	140735937		1896	4073	5969	SO:0001819	synonymous_variant	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140735937G>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1170G>T	5.37:g.140735937G>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.L390L	p.L390L	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1170	+			390			Cadherin 4.|Extracellular (Potential).		Q9Y5D3	Silent	SNP	ENST00000571252.1	37	c.1170G>T	CCDS58979.1																																																																																				PASS	0.418	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		5	5	5	5	---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140774445	140774445	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:140774445C>T	ENST00000398604.2	+	1	2065	c.2065C>T	c.(2065-2067)Ctt>Ttt	p.L689F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	689					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L689F(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATTCGAGCCTTACACTCTA	0.612																																						uc003lkd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2065-2067)CTT>TTT		protocadherin gamma subfamily A, 8 isoform 1							38.0	44.0	42.0					5																	140774445		2195	4292	6487	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140774445C>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.2065C>T	5.37:g.140774445C>T	ENSP00000381605:p.Leu689Phe					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_uc003lkb.3_Missense_Mutation_p.L689F	p.L689F	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2963	+			689			Extracellular (Potential).		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.2065C>T	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	10.83	1.460507	0.26248	.	.	ENSG00000253767	ENST00000398604	T	0.55234	0.53	4.5	3.62	0.41486	.	0.331883	0.16308	U	0.220121	T	0.79149	0.4397	H	0.96861	3.895	0.28824	N	0.897542	D;D	0.71674	0.998;0.998	D;D	0.72075	0.946;0.976	T	0.74293	-0.3712	10	0.87932	D	0	.	9.1193	0.36778	0.1641:0.6771:0.1588:0.0	.	689;689	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	F	689	ENSP00000381605:L689F	ENSP00000381605:L689F	L	+	1	0	PCDHGA8	140754629	0.007000	0.16637	0.221000	0.23827	0.002000	0.02628	0.126000	0.15769	1.098000	0.41479	0.655000	0.94253	CTT		PASS	0.612	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		12	28	12	28	---	---	---	---
PCDHGB7	56099	broad.mit.edu	37	5	140798363	140798363	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:140798363G>C	ENST00000398594.2	+	1	937	c.937G>C	c.(937-939)Gaa>Caa	p.E313Q	PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_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	313	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E313Q(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)			TGAAGAAGTAGAAAGATATAC	0.413																																						uc003lkn.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(937-939)GAA>CAA		protocadherin gamma subfamily B, 7 isoform 1							61.0	58.0	59.0					5																	140798363		1865	4096	5961	SO:0001583	missense	56099				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140798363G>C	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.937G>C	5.37:g.140798363G>C	ENSP00000381594:p.Glu313Gln					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_Missense_Mutation_p.E313Q|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	p.E313Q	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1082	+			313			Extracellular (Potential).|Cadherin 3.		Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.937G>C	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	9.165	1.019579	0.19355	.	.	ENSG00000254122	ENST00000398594	T	0.61980	0.06	5.7	-0.132	0.13489	Cadherin (4);Cadherin-like (1);	0.899723	0.08924	U	0.874018	T	0.47284	0.1437	L	0.31294	0.92	0.09310	N	1	B;B	0.28258	0.205;0.021	B;B	0.32022	0.139;0.06	T	0.41215	-0.9521	10	0.35671	T	0.21	.	6.0097	0.19569	0.4342:0.1292:0.4367:0.0	.	313;313	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	Q	313	ENSP00000381594:E313Q	ENSP00000381594:E313Q	E	+	1	0	PCDHGB7	140778547	0.000000	0.05858	0.573000	0.28510	0.892000	0.51952	-2.000000	0.01466	0.339000	0.23719	0.561000	0.74099	GAA		PASS	0.413	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		13	40	13	40	---	---	---	---
PCDHGB7	56099	broad.mit.edu	37	5	140799720	140799720	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:140799720T>G	ENST00000398594.2	+	1	2294	c.2294T>G	c.(2293-2295)tTt>tGt	p.F765C	PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_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	765					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F765C(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)			AATCCAGAATTTAATTTTTTC	0.453																																						uc003lkn.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2293-2295)TTT>TGT		protocadherin gamma subfamily B, 7 isoform 1							62.0	61.0	61.0					5																	140799720		1850	4103	5953	SO:0001583	missense	56099				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140799720T>G	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.2294T>G	5.37:g.140799720T>G	ENSP00000381594:p.Phe765Cys					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_Missense_Mutation_p.F765C|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	p.F765C	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2439	+			765			Cytoplasmic (Potential).		Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.2294T>G	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	t	7.478	0.648144	0.14516	.	.	ENSG00000254122	ENST00000398594	T	0.50813	0.73	5.82	5.82	0.92795	.	0.260251	0.19536	U	0.111903	T	0.55114	0.1900	M	0.76838	2.35	0.24525	N	0.994147	B;B	0.25105	0.047;0.118	B;B	0.31812	0.03;0.136	T	0.53599	-0.8416	10	0.51188	T	0.08	.	15.1604	0.72778	0.0:0.0:0.0:1.0	.	765;765	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	C	765	ENSP00000381594:F765C	ENSP00000381594:F765C	F	+	2	0	PCDHGB7	140779904	1.000000	0.71417	0.960000	0.40013	0.057000	0.15508	1.304000	0.33482	2.225000	0.72522	0.459000	0.35465	TTT		PASS	0.453	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		65	56	65	56	---	---	---	---
PCDHGA11	56105	broad.mit.edu	37	5	140801496	140801496	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:140801496C>T	ENST00000398587.2	+	1	735	c.702C>T	c.(700-702)ctC>ctT	p.L234L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.L234L|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	234	Cadherin 2. {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.L234L(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)			TGGTGGTCCTCGATGTAAATG	0.517																																						uc003lkq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(700-702)CTC>CTT		protocadherin gamma subfamily A, 11 isoform 1							79.0	83.0	82.0					5																	140801496		2032	4210	6242	SO:0001819	synonymous_variant	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140801496C>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.702C>T	5.37:g.140801496C>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_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.L234L|PCDHGA11_uc003lkp.1_Silent_p.L234L	p.L234L	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	960	+			234			Extracellular (Potential).|Cadherin 2.		B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	ENST00000398587.2	37	c.702C>T	CCDS47294.1																																																																																				PASS	0.517	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		64	140	64	140	---	---	---	---
DPYSL3	1809	broad.mit.edu	37	5	146773613	146773613	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:146773613G>C	ENST00000398514.3	-	14	2069	c.1698C>G	c.(1696-1698)atC>atG	p.I566M	DPYSL3_ENST00000534907.1_Missense_Mutation_p.I192M|DPYSL3_ENST00000343218.5_Missense_Mutation_p.I680M	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	566					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)	p.I566M(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGAGATGTGATATTAGAAC	0.507																																						uc003lon.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1696-1698)ATC>ATG		dihydropyrimidinase-like 3							57.0	60.0	59.0					5																	146773613		1856	4088	5944	SO:0001583	missense	1809				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	g.chr5:146773613G>C	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1698C>G	5.37:g.146773613G>C	ENSP00000381526:p.Ile566Met					DPYSL3_uc003loo.2_Missense_Mutation_p.I680M	p.I566M	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	1808	-			566					B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	c.1698C>G	CCDS43381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.67|11.67	1.707689|1.707689	0.30322|0.30322	.|.	.|.	ENSG00000113657|ENSG00000113657	ENST00000520473|ENST00000398514;ENST00000343218;ENST00000534907	.|D;D;T	.|0.89617	.|-2.36;-2.54;-1.22	5.29|5.29	3.31|3.31	0.37934|0.37934	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94364|0.94364	0.8188|0.8188	M|M	0.88570|0.88570	2.965|2.965	0.58432|0.58432	D|D	0.99999|0.99999	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.993	D|D	0.94410|0.94410	0.7631|0.7631	5|10	.|0.87932	.|D	.|0	-15.218|-15.218	10.5082|10.5082	0.44847|0.44847	0.0813:0.0:0.7084:0.2103|0.0813:0.0:0.7084:0.2103	.|.	.|680;566	.|B3SXQ8;Q14195	.|.;DPYL3_HUMAN	D|M	205|566;680;192	.|ENSP00000381526:I566M;ENSP00000343690:I680M;ENSP00000441819:I192M	.|ENSP00000343690:I680M	H|I	-|-	1|3	0|3	DPYSL3|DPYSL3	146753806|146753806	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.123000|0.123000	0.20343|0.20343	2.124000|2.124000	0.42006|0.42006	1.230000|1.230000	0.43646|0.43646	-0.448000|-0.448000	0.05591|0.05591	CAC|ATC		PASS	0.507	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		20	138	20	138	---	---	---	---
TNIP1	10318	broad.mit.edu	37	5	150416412	150416412	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:150416412C>A	ENST00000389378.2	-	13	1922	c.1334G>T	c.(1333-1335)gGa>gTa	p.G445V	TNIP1_ENST00000523338.1_Missense_Mutation_p.G445V|TNIP1_ENST00000524280.1_Missense_Mutation_p.G445V|TNIP1_ENST00000523200.1_Missense_Mutation_p.G445V|TNIP1_ENST00000521591.1_Missense_Mutation_p.G445V|TNIP1_ENST00000522226.1_Missense_Mutation_p.G445V|TNIP1_ENST00000518977.1_Missense_Mutation_p.G445V|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000520931.1_Missense_Mutation_p.G392V|TNIP1_ENST00000315050.7_Missense_Mutation_p.G445V	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	445	Required for inhibitory activity of TNF- induced NF-kappa-B activation. {ECO:0000250}.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)	p.G445V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCCCTGCTCCTTCTGGGCT	0.572																																						uc003ltf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1333-1335)GGA>GTA		TNFAIP3 interacting protein 1							107.0	97.0	101.0					5																	150416412		2203	4300	6503	SO:0001583	missense	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150416412C>A	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.1334G>T	5.37:g.150416412C>A	ENSP00000374029:p.Gly445Val					TNIP1_uc011dcn.1_5'Flank|TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Missense_Mutation_p.G445V|TNIP1_uc010jhn.2_Missense_Mutation_p.G445V|TNIP1_uc011dco.1_Missense_Mutation_p.G445V|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Missense_Mutation_p.G445V|TNIP1_uc003ltg.2_Missense_Mutation_p.G392V|TNIP1_uc003ltj.2_Missense_Mutation_p.G445V|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Missense_Mutation_p.G392V|TNIP1_uc010jhp.1_Missense_Mutation_p.G392V|TNIP1_uc010jhr.1_Missense_Mutation_p.G445V|TNIP1_uc003ltk.2_Missense_Mutation_p.G445V	p.G445V	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	1923	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	445			Potential.		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	c.1334G>T	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173338	0.57584	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000517504;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840	T;T;T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	5.53	4.65	0.58169	.	0.149839	0.64402	D	0.000016	T	0.70780	0.3263	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.997;0.999;0.999;0.999	D;D;D;D;D;D;D	0.77557	0.99;0.926;0.988;0.949;0.926;0.967;0.967	T	0.69533	-0.5120	10	0.34782	T	0.22	-11.5898	7.7453	0.28864	0.0:0.7478:0.166:0.0862	.	445;399;399;445;445;445;445	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	V	392;445;58;445;445;402;402;407;445;445;445;445;445;402	ENSP00000429891:G392V;ENSP00000374029:G445V;ENSP00000430739:G58V;ENSP00000317891:G445V;ENSP00000428243:G445V;ENSP00000428187:G445V;ENSP00000430760:G445V;ENSP00000430971:G445V;ENSP00000429912:G445V;ENSP00000431105:G445V	ENSP00000317891:G445V	G	-	2	0	TNIP1	150396605	0.956000	0.32656	0.992000	0.48379	0.697000	0.40408	1.920000	0.40025	1.286000	0.44565	0.561000	0.74099	GGA		PASS	0.572	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		30	112	30	112	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150925111	150925111	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:150925111G>A	ENST00000261800.5	-	9	5589	c.5577C>T	c.(5575-5577)atC>atT	p.I1859I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1859	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I1859I(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACATGAATGATGACTTGGG	0.468																																						uc003lue.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(5575-5577)ATC>ATT		FAT tumor suppressor 2 precursor							84.0	92.0	89.0					5																	150925111		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150925111G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5577C>T	5.37:g.150925111G>A						GM2A_uc011dcs.1_Intron	p.I1859I	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	5590	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1859			Extracellular (Potential).|Cadherin 16.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.5577C>T	CCDS4317.1																																																																																				PASS	0.468	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		55	137	55	137	---	---	---	---
FAM114A2	10827	broad.mit.edu	37	5	153372613	153372613	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:153372613C>G	ENST00000351797.4	-	14	1517	c.1441G>C	c.(1441-1443)Gag>Cag	p.E481Q	FAM114A2_ENST00000522858.1_Missense_Mutation_p.E481Q|FAM114A2_ENST00000520313.1_Missense_Mutation_p.E411Q|FAM114A2_ENST00000520667.1_Missense_Mutation_p.E481Q|FAM114A2_ENST00000518946.1_5'UTR	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	481							purine nucleotide binding (GO:0017076)	p.E481Q(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						AGAGAGATCTCTAGCACAGGT	0.418																																						uc003lvb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1441-1443)GAG>CAG		hypothetical protein LOC10827							130.0	123.0	125.0					5																	153372613		2203	4300	6503	SO:0001583	missense	10827						purine nucleotide binding	g.chr5:153372613C>G	AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1441G>C	5.37:g.153372613C>G	ENSP00000341597:p.Glu481Gln					FAM114A2_uc003lvc.2_Missense_Mutation_p.E481Q|FAM114A2_uc003lvd.2_Missense_Mutation_p.E481Q|FAM114A2_uc003lve.2_Missense_Mutation_p.E297Q|FAM114A2_uc011dda.1_Missense_Mutation_p.E411Q	p.E481Q	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN			14	2029	-			481					B2R8D8|Q9H7E0	Missense_Mutation	SNP	ENST00000351797.4	37	c.1441G>C	CCDS4323.1	.	.	.	.	.	.	.	.	.	.	C	2.875	-0.233153	0.05983	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000520313	T;T;T;T	0.09538	3.23;3.23;3.23;2.97	5.51	2.61	0.31194	.	0.181370	0.48286	N	0.000199	T	0.04452	0.0122	N	0.04203	-0.255	0.28169	N	0.928651	B;B	0.30526	0.153;0.283	B;B	0.26310	0.049;0.068	T	0.39583	-0.9607	10	0.02654	T	1	-4.0785	15.997	0.80260	0.0:0.4592:0.5408:0.0	.	411;481	E7ESJ7;Q9NRY5	.;F1142_HUMAN	Q	481;481;481;411	ENSP00000341597:E481Q;ENSP00000430489:E481Q;ENSP00000430384:E481Q;ENSP00000429088:E411Q	ENSP00000341597:E481Q	E	-	1	0	FAM114A2	153352806	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.643000	0.46604	0.286000	0.22352	-0.176000	0.13171	GAG		PASS	0.418	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1	NM_018691		47	152	47	152	---	---	---	---
FAXDC2	10826	broad.mit.edu	37	5	154199911	154199911	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:154199911C>A	ENST00000326080.5	-	9	1390	c.967G>T	c.(967-969)Gag>Tag	p.E323*	FAXDC2_ENST00000517938.1_Nonsense_Mutation_p.E300*	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	323					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.E323*(1)									GGGATGCTCTCAGAGAGCGGG	0.582																																						uc003lvs.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(967-969)GAG>TAG		hypothetical protein LOC10826							54.0	53.0	53.0					5																	154199911		2052	4186	6238	SO:0001587	stop_gained	10826				fatty acid biosynthetic process	integral to membrane	iron ion binding|oxidoreductase activity	g.chr5:154199911C>A	AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"""Fatty acid hydroxylase domain containing"""	1334	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 4"""	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.967G>T	5.37:g.154199911C>A	ENSP00000320604:p.Glu323*					C5orf4_uc003lvq.2_5'Flank|C5orf4_uc003lvr.2_Silent_p.L62L|C5orf4_uc011dde.1_Nonsense_Mutation_p.E300*	p.E323*	NM_032385	NP_115761	Q96IV6	CE004_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		9	1138	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	323					B4DIE1|Q9BSX6|Q9H8C7	Nonsense_Mutation	SNP	ENST00000326080.5	37	c.967G>T	CCDS43390.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026800	0.54683	.	.	ENSG00000170271	ENST00000326080;ENST00000517938	.	.	.	5.18	4.3	0.51218	.	0.343591	0.33854	N	0.004484	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	7.4985	0.27503	0.0:0.7125:0.1367:0.1508	.	.	.	.	X	323;300	.	ENSP00000320604:E323X	E	-	1	0	C5orf4	154180104	0.006000	0.16342	0.866000	0.34008	0.494000	0.33585	0.134000	0.15932	1.168000	0.42723	0.561000	0.74099	GAG		PASS	0.582	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377429.1	NM_032385		6	47	6	47	---	---	---	---
KIF4B	285643	broad.mit.edu	37	5	154393886	154393886	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:154393886G>T	ENST00000435029.4	+	1	627	c.467G>T	c.(466-468)cGt>cTt	p.R156L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	156	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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.R156L(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)			TGCCCATCTCGTGAGAAAGCT	0.358																																						uc010jih.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(466-468)CGT>CTT		kinesin family member 4B							157.0	160.0	159.0					5																	154393886		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.chr5:154393886G>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.467G>T	5.37:g.154393886G>T	ENSP00000387875:p.Arg156Leu						p.R156L	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	627	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	156			Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.467G>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	9.724	1.160584	0.21454	.	.	ENSG00000226650	ENST00000435029	T	0.72942	-0.7	1.73	0.834	0.18880	Kinesin, motor domain (4);	.	.	.	.	T	0.62146	0.2404	L	0.53617	1.68	0.38319	D	0.943488	B	0.17268	0.021	B	0.26614	0.071	T	0.58008	-0.7712	9	0.49607	T	0.09	.	6.1483	0.20298	0.1824:0.0:0.8176:0.0	.	156	Q2VIQ3	KIF4B_HUMAN	L	156	ENSP00000387875:R156L	ENSP00000387875:R156L	R	+	2	0	KIF4B	154374079	0.001000	0.12720	0.940000	0.37924	0.851000	0.48451	-1.547000	0.02186	0.307000	0.22880	0.655000	0.94253	CGT		PASS	0.358	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			200	183	200	183	---	---	---	---
CYFIP2	26999	broad.mit.edu	37	5	156747723	156747723	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:156747723T>A	ENST00000521420.1	+	14	1597	c.1506T>A	c.(1504-1506)aaT>aaA	p.N502K	CYFIP2_ENST00000377576.3_Missense_Mutation_p.N528K|CYFIP2_ENST00000435847.2_Missense_Mutation_p.N202K|CYFIP2_ENST00000347377.6_Missense_Mutation_p.N528K|CYFIP2_ENST00000318218.6_Missense_Mutation_p.N528K|CYFIP2_ENST00000522463.1_Missense_Mutation_p.N332K|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.N453K					cytoplasmic FMR1 interacting protein 2									p.N528K(3)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGCCCCCTAATGACCCATGCT	0.567																																						uc003lwq.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1582-1584)AAT>AAA		cytoplasmic FMR1 interacting protein 2							51.0	52.0	52.0					5																	156747723		1940	4136	6076	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156747723T>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1506T>A	5.37:g.156747723T>A	ENSP00000430904:p.Asn502Lys					CYFIP2_uc011ddn.1_Missense_Mutation_p.N502K|CYFIP2_uc011ddo.1_Missense_Mutation_p.N332K|CYFIP2_uc003lwr.2_Missense_Mutation_p.N528K|CYFIP2_uc003lws.2_Missense_Mutation_p.N528K|CYFIP2_uc003lwt.2_Missense_Mutation_p.N406K|CYFIP2_uc011ddp.1_Missense_Mutation_p.N262K	p.N528K	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		17	1722	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	528						Missense_Mutation	SNP	ENST00000521420.1	37	c.1584T>A		.	.	.	.	.	.	.	.	.	.	T	20.4	3.976921	0.74360	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.64	4.49	0.54785	.	0.082653	0.85682	D	0.000000	T	0.69655	0.3135	L	0.51422	1.61	0.80722	D	1	P;P;P;B;B;P	0.49559	0.82;0.908;0.863;0.425;0.217;0.925	B;P;B;B;B;D	0.65140	0.392;0.643;0.438;0.182;0.138;0.932	T	0.66148	-0.5996	10	0.29301	T	0.29	-23.5926	11.0281	0.47757	0.0:0.0722:0.0:0.9278	.	392;332;502;528;528;528	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	K	528;332;502;528;528;453;202	ENSP00000325817:N528K;ENSP00000428009:N332K;ENSP00000430904:N502K;ENSP00000313567:N528K;ENSP00000366799:N528K;ENSP00000444645:N453K;ENSP00000403793:N202K	ENSP00000325817:N528K	N	+	3	2	CYFIP2	156680301	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	0.263000	0.18478	2.152000	0.67230	0.533000	0.62120	AAT		PASS	0.567	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		31	46	31	46	---	---	---	---
THG1L	54974	broad.mit.edu	37	5	157159883	157159883	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:157159883G>A	ENST00000231198.7	+	2	443	c.199G>A	c.(199-201)Gag>Aag	p.E67K		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	67					protein homotetramerization (GO:0051289)|tRNA modification (GO:0006400)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|tRNA binding (GO:0000049)|tRNA guanylyltransferase activity (GO:0008193)	p.E67K(1)		NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGGTTTGCTGAGAAGCACAA	0.473																																						uc003lxd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(199-201)GAG>AAG		interphase cytoplasmic foci protein 45							104.0	100.0	101.0					5																	157159883		2203	4300	6503	SO:0001583	missense	54974				protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity	g.chr5:157159883G>A	AK223119	CCDS4341.1	5q33.3	2008-02-05			ENSG00000113272	ENSG00000113272			26053	protein-coding gene	gene with protein product	"""interphase cytoplasmic foci protein 45"""					11230166	Standard	XM_005265939		Approved	ICF45, FLJ11601, FLJ20546	uc003lxd.3	Q9NWX6	OTTHUMG00000130254	ENST00000231198.7:c.199G>A	5.37:g.157159883G>A	ENSP00000231198:p.Glu67Lys					THG1L_uc011ddu.1_5'UTR	p.E67K	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	325	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	67					D3DQJ5|Q53G12|Q7L5R3|Q9H0S2	Missense_Mutation	SNP	ENST00000231198.7	37	c.199G>A	CCDS4341.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635147	0.47049	.	.	ENSG00000113272	ENST00000231198	T	0.41758	0.99	5.87	5.87	0.94306	.	0.231972	0.51477	D	0.000098	T	0.27349	0.0671	N	0.20807	0.61	0.80722	D	1	B	0.29862	0.259	B	0.23018	0.043	T	0.15464	-1.0436	10	0.02654	T	1	-20.7334	20.2191	0.98319	0.0:0.0:1.0:0.0	.	67	Q9NWX6	THG1_HUMAN	K	67	ENSP00000231198:E67K	ENSP00000231198:E67K	E	+	1	0	THG1L	157092461	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	9.748000	0.98867	2.780000	0.95670	0.655000	0.94253	GAG		PASS	0.473	THG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252579.2	NM_017872		26	109	26	109	---	---	---	---
GABRA1	2554	broad.mit.edu	37	5	161300180	161300180	+	Nonsense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:161300180A>T	ENST00000428797.2	+	6	668	c.313A>T	c.(313-315)Aaa>Taa	p.K105*	GABRA1_ENST00000437025.2_Nonsense_Mutation_p.K105*|GABRA1_ENST00000420560.1_Nonsense_Mutation_p.K105*|GABRA1_ENST00000444819.1_Nonsense_Mutation_p.K105*|GABRA1_ENST00000393943.4_Nonsense_Mutation_p.K105*|GABRA1_ENST00000023897.6_Nonsense_Mutation_p.K105*	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	105					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.K105*(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GTTAAAATTTAAAGGACCTAT	0.383																																						uc010jiw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(313-315)AAA>TAA		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						87.0	92.0	90.0					5																	161300180		2203	4300	6503	SO:0001587	stop_gained	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	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.chr5:161300180A>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.313A>T	5.37:g.161300180A>T	ENSP00000393097:p.Lys105*					GABRA1_uc010jix.2_Nonsense_Mutation_p.K105*|GABRA1_uc010jiy.2_Nonsense_Mutation_p.K105*|GABRA1_uc003lyx.3_Nonsense_Mutation_p.K105*|GABRA1_uc010jiz.2_Nonsense_Mutation_p.K105*|GABRA1_uc010jja.2_Nonsense_Mutation_p.K105*|GABRA1_uc010jjb.2_Nonsense_Mutation_p.K105*	p.K105*	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	6	781	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	105			Extracellular (Probable).		D3DQK6|Q8N629	Nonsense_Mutation	SNP	ENST00000428797.2	37	c.313A>T	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	A	39	7.355384	0.98231	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819;ENST00000519621	.	.	.	5.75	5.75	0.90469	.	0.094452	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	16.0549	0.80794	1.0:0.0:0.0:0.0	.	.	.	.	X	105	.	ENSP00000023897:K105X	K	+	1	0	GABRA1	161232758	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.159000	0.71856	2.193000	0.70182	0.477000	0.44152	AAA		PASS	0.383	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		52	220	52	220	---	---	---	---
COL23A1	91522	broad.mit.edu	37	5	177733903	177733903	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:177733903C>T	ENST00000390654.3	-	3	736	c.379G>A	c.(379-381)Ggc>Agc	p.G127S	COL23A1_ENST00000407622.1_Missense_Mutation_p.G100S	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	127	Collagen-like 1.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G127S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCAGGCTTGCCGCGCCGTCCA	0.617																																						uc003mje.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(379-381)GGC>AGC		collagen, type XXIII, alpha 1							20.0	25.0	23.0					5																	177733903		1948	4113	6061	SO:0001583	missense	91522					collagen|integral to membrane|plasma membrane	protein binding	g.chr5:177733903C>T	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.379G>A	5.37:g.177733903C>T	ENSP00000375069:p.Gly127Ser						p.G127S	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	3	737	-	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	127			Extracellular (Potential).|Collagen-like 1.|Gly-rich.		Q8IVR4|Q9NT93	Missense_Mutation	SNP	ENST00000390654.3	37	c.379G>A	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720629	0.48728	.	.	ENSG00000050767	ENST00000390654;ENST00000407622	D;D	0.99329	-5.75;-5.75	3.2	3.2	0.36748	.	0.000000	0.64402	D	0.000009	D	0.99533	0.9833	H	0.97077	3.935	0.41182	D	0.986244	D	0.89917	1.0	D	0.91635	0.999	D	0.98010	1.0365	10	0.72032	D	0.01	-6.1399	10.2279	0.43236	0.0:1.0:0.0:0.0	.	127	Q86Y22	CONA1_HUMAN	S	127;100	ENSP00000375069:G127S;ENSP00000385092:G100S	ENSP00000375069:G127S	G	-	1	0	COL23A1	177666509	0.996000	0.38824	1.000000	0.80357	0.975000	0.68041	3.154000	0.50693	2.119000	0.64992	0.478000	0.44815	GGC		PASS	0.617	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465		3	25	3	25	---	---	---	---
GRM6	2916	broad.mit.edu	37	5	178416114	178416114	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:178416114G>A	ENST00000517717.1	-	7	1214	c.1176C>T	c.(1174-1176)gaC>gaT	p.D392D	GRM6_ENST00000231188.5_Silent_p.D392D|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	392					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.D392D(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CGTAGGTGGAGTCCCGGCCGA	0.672																																						uc003mjr.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)|breast(1)|pancreas(1)	8						c.(1174-1176)GAC>GAT		glutamate receptor, metabotropic 6 precursor							127.0	111.0	117.0					5																	178416114		2203	4300	6503	SO:0001819	synonymous_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178416114G>A	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1176C>T	5.37:g.178416114G>A						GRM6_uc010jla.1_Intron|GRM6_uc003mjs.1_Silent_p.D12D	p.D392D	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	6	1355	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	392			Extracellular (Potential).			Silent	SNP	ENST00000517717.1	37	c.1176C>T	CCDS4442.1																																																																																				PASS	0.672	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			15	19	15	19	---	---	---	---
ZNF354C	30832	broad.mit.edu	37	5	178505850	178505850	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:178505850G>C	ENST00000315475.6	+	5	723	c.417G>C	c.(415-417)gaG>gaC	p.E139D		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	139					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.E139D(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AAGAGCAAGAGAAGAAACCTC	0.378																																						uc003mju.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(415-417)GAG>GAC		zinc finger protein 354C							93.0	98.0	96.0					5																	178505850		2203	4300	6503	SO:0001583	missense	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178505850G>C		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.417G>C	5.37:g.178505850G>C	ENSP00000324064:p.Glu139Asp						p.E139D	NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	532	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	139					Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	c.417G>C	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	G	8.696	0.908546	0.17833	.	.	ENSG00000177932	ENST00000315475	T	0.05717	3.4	3.7	-3.42	0.04825	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B	0.27498	0.18	B	0.22753	0.041	T	0.47560	-0.9108	9	0.18710	T	0.47	-1.438	10.2383	0.43297	0.7608:0.0:0.2392:0.0	.	139	Q86Y25	Z354C_HUMAN	D	139	ENSP00000324064:E139D	ENSP00000324064:E139D	E	+	3	2	ZNF354C	178438456	0.016000	0.18221	0.001000	0.08648	0.183000	0.23260	-0.021000	0.12504	-0.729000	0.04875	-0.216000	0.12614	GAG		PASS	0.378	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			7	213	7	213	---	---	---	---
ADAMTS2	9509	broad.mit.edu	37	5	178562931	178562931	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:178562931G>C	ENST00000251582.7	-	13	2165	c.2064C>G	c.(2062-2064)ctC>ctG	p.L688L		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	688	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L688L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGCGCACACAGAGGCTGAAGG	0.647																																						uc003mjw.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(2062-2064)CTC>CTG		ADAM metallopeptidase with thrombospondin type 1							73.0	67.0	69.0					5																	178562931		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178562931G>C	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2064C>G	5.37:g.178562931G>C							p.L688L	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	13	2064	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	688			Cys-rich.			Silent	SNP	ENST00000251582.7	37	c.2064C>G	CCDS4444.1																																																																																				PASS	0.647	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		32	93	32	93	---	---	---	---
RREB1	6239	broad.mit.edu	37	6	7247378	7247378	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:7247378G>T	ENST00000349384.6	+	11	4844	c.4530G>T	c.(4528-4530)agG>agT	p.R1510S	RREB1_ENST00000379933.3_Missense_Mutation_p.R1510S|RREB1_ENST00000334984.6_Intron|RREB1_ENST00000379938.2_Missense_Mutation_p.R1565S	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1510					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R1510S(1)|p.R1565S(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CAGACAAGAGGAAGAAGGTCT	0.607																																						uc003mxc.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(4528-4530)AGG>AGT		ras responsive element binding protein 1 isoform							70.0	66.0	68.0					6																	7247378		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7247378G>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.4530G>T	6.37:g.7247378G>T	ENSP00000305560:p.Arg1510Ser					RREB1_uc003mxb.2_Missense_Mutation_p.R1565S|RREB1_uc010jnx.2_Intron	p.R1510S	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			11	4920	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1510					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.4530G>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459124	0.84317	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384	T;T;T	0.07021	3.23;3.23;3.23	5.3	4.42	0.53409	.	0.000000	0.64402	D	0.000005	T	0.15262	0.0368	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.973	T	0.00690	-1.1608	10	0.87932	D	0	-46.728	9.9249	0.41485	0.081:0.1413:0.7778:0.0	.	1510;1565	Q92766;Q92766-2	RREB1_HUMAN;.	S	1510;1565;1510	ENSP00000369265:R1510S;ENSP00000369270:R1565S;ENSP00000305560:R1510S	ENSP00000305560:R1510S	R	+	3	2	RREB1	7192377	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.162000	0.64942	1.219000	0.43474	0.491000	0.48974	AGG		PASS	0.607	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			19	25	19	25	---	---	---	---
RANBP9	10048	broad.mit.edu	37	6	13625971	13625971	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:13625971G>A	ENST00000011619.3	-	13	2031	c.1973C>T	c.(1972-1974)tCa>tTa	p.S658L	NOL7_ENST00000474485.1_Intron|RANBP9_ENST00000469916.1_5'UTR|RANBP9_ENST00000539980.1_Missense_Mutation_p.S429L	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	658	Interaction with FMR1.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)	p.S658L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			CCAGGGATCTGAATATGCTAG	0.393																																						uc003nbb.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(1972-1974)TCA>TTA		RAN binding protein 9							169.0	167.0	168.0					6																	13625971		2203	4300	6503	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13625971G>A	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1973C>T	6.37:g.13625971G>A	ENSP00000011619:p.Ser658Leu					RANBP9_uc003nba.2_Missense_Mutation_p.S317L	p.S658L	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		13	2032	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	658			Interaction with FMR1.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.1973C>T	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	G	36	5.781266	0.96929	.	.	ENSG00000010017	ENST00000011619;ENST00000539980	T	0.79749	-1.3	6.17	6.17	0.99709	Ran binding protein-like, CRA domain (1);Ran binding protein, CRA domain (1);	0.000000	0.85682	D	0.000000	D	0.89908	0.6851	M	0.85945	2.785	0.80722	D	1	D	0.63046	0.992	D	0.64042	0.921	D	0.89807	0.3979	10	0.87932	D	0	-14.1651	20.8794	0.99867	0.0:0.0:1.0:0.0	.	658	Q96S59	RANB9_HUMAN	L	658;429	ENSP00000011619:S658L	ENSP00000011619:S658L	S	-	2	0	RANBP9	13733950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TCA		PASS	0.393	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			18	287	18	287	---	---	---	---
DTNBP1	84062	broad.mit.edu	37	6	15627678	15627678	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:15627678G>C	ENST00000344537.5	-	5	423	c.251C>G	c.(250-252)tCt>tGt	p.S84C	DTNBP1_ENST00000355917.3_Missense_Mutation_p.S84C|DTNBP1_ENST00000338950.5_Missense_Mutation_p.S84C	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	84					actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)		p.S84C(2)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			CCAGTGCGCAGAAAGCATGAC	0.488									Hermansky-Pudlak syndrome																													uc003nbm.2																			2	Substitution - Missense(2)		lung(2)		0						c.(250-252)TCT>TGT		dystrobrevin binding protein 1 isoform a							52.0	51.0	51.0					6																	15627678		2203	4300	6503	SO:0001583	missense	84062	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding	g.chr6:15627678G>C	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"""Biogenesis of lysosomal organelles complex-1 subunits"""	17328	protein-coding gene	gene with protein product	"""dysbindin-1"", ""biogenesis of lysosomal organelles complex-1, subunit 8"""	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.251C>G	6.37:g.15627678G>C	ENSP00000341680:p.Ser84Cys					DTNBP1_uc003nbl.2_Missense_Mutation_p.S3C|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA|DTNBP1_uc003nbp.2_Missense_Mutation_p.S84C|DTNBP1_uc010jph.2_Missense_Mutation_p.S71C	p.S84C	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Epithelial(50;0.211)		5	422	-	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	84					A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Missense_Mutation	SNP	ENST00000344537.5	37	c.251C>G	CCDS4534.1	.	.	.	.	.	.	.	.	.	.	G	7.693	0.691386	0.15039	.	.	ENSG00000047579	ENST00000344537;ENST00000355917;ENST00000397306;ENST00000511762;ENST00000338950;ENST00000543749	T;T;T	0.34275	1.37;1.37;1.39	5.58	5.58	0.84498	.	0.149941	0.31347	N	0.007814	T	0.46908	0.1417	L	0.49350	1.555	0.42985	D	0.99447	B;B;D	0.89917	0.159;0.193;1.0	B;B;D	0.75020	0.087;0.087;0.985	T	0.22487	-1.0215	10	0.38643	T	0.18	.	18.3295	0.90263	0.0:0.0:1.0:0.0	.	84;84;84	F5GY46;Q96EV8-2;Q96EV8	.;.;DTBP1_HUMAN	C	84;84;3;49;84;84	ENSP00000341680:S84C;ENSP00000348183:S84C;ENSP00000344718:S84C	ENSP00000344718:S84C	S	-	2	0	DTNBP1	15735657	1.000000	0.71417	0.242000	0.24170	0.024000	0.10985	5.465000	0.66725	2.637000	0.89404	0.650000	0.86243	TCT		PASS	0.488	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000039933.2	NM_032122		31	38	31	38	---	---	---	---
SLC17A1	6568	broad.mit.edu	37	6	25811766	25811766	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:25811766G>C	ENST00000244527.4	-	10	1153	c.1038C>G	c.(1036-1038)ctC>ctG	p.L346L	SLC17A1_ENST00000468082.1_Silent_p.L292L|SLC17A1_ENST00000427328.1_Silent_p.L292L|SLC17A1_ENST00000476801.1_Silent_p.L346L	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	346					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.L346L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TTGCAGGAAGGAGAAATCCTG	0.463																																						uc003nfh.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1036-1038)CTC>CTG		solute carrier family 17 (sodium phosphate),							85.0	86.0	86.0					6																	25811766		2203	4300	6503	SO:0001819	synonymous_variant	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25811766G>C		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.1038C>G	6.37:g.25811766G>C						SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Silent_p.L344L|SLC17A1_uc010jqc.1_Silent_p.L290L	p.L346L	NM_005074	NP_005065	Q14916	NPT1_HUMAN			10	1154	-			346			Helical; (Potential).		A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Silent	SNP	ENST00000244527.4	37	c.1038C>G	CCDS4565.1																																																																																				PASS	0.463	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			22	108	22	108	---	---	---	---
HIST1H4B	8366	broad.mit.edu	37	6	26027306	26027306	+	Missense_Mutation	SNP	G	G	A	rs202202685		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:26027306G>A	ENST00000377364.3	-	1	174	c.175C>T	c.(175-177)Ctc>Ttc	p.L59F		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	59					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.L59F(1)		large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						AACACCTTGAGAACGCCACGA	0.552											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003nfr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(175-177)CTC>TTC		histone cluster 1, H4b							96.0	82.0	87.0					6																	26027306		2203	4300	6503	SO:0001583	missense	8366				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26027306G>A	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.175C>T	6.37:g.26027306G>A	ENSP00000366581:p.Leu59Phe		OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	783		p.L59F	NM_003544	NP_003535	P62805	H4_HUMAN			1	175	-			59					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	37	c.175C>T	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	g	15.78	2.935567	0.52866	.	.	ENSG00000124529	ENST00000377364	T	0.72051	-0.62	4.65	3.78	0.43462	.	0.000000	0.47093	U	0.000241	T	0.72526	0.3471	.	.	.	0.40321	D	0.978828	.	.	.	.	.	.	T	0.77490	-0.2568	7	0.87932	D	0	.	12.8676	0.57948	0.0811:0.0:0.9189:0.0	.	.	.	.	F	59	ENSP00000366581:L59F	ENSP00000366581:L59F	L	-	1	0	HIST1H4B	26135285	1.000000	0.71417	0.409000	0.26459	0.001000	0.01503	3.040000	0.49799	1.260000	0.44134	0.563000	0.77884	CTC		PASS	0.552	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		24	89	24	89	---	---	---	---
HIST1H2AE	3012	broad.mit.edu	37	6	26217427	26217427	+	Missense_Mutation	SNP	G	G	C	rs563842312	byFrequency	TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:26217427G>C	ENST00000303910.2	+	1	263	c.225G>C	c.(223-225)aaG>aaC	p.K75N	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	75						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K75N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				GCGACAATAAGAAGACCCGCA	0.617																																						uc003nha.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(223-225)AAG>AAC		histone cluster 1, H2ae							66.0	66.0	66.0					6																	26217427		2203	4300	6503	SO:0001583	missense	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217427G>C	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.225G>C	6.37:g.26217427G>C	ENSP00000303373:p.Lys75Asn					HIST1H2BG_uc003ngz.2_5'Flank	p.K75N	NM_021052	NP_066390	P04908	H2A1B_HUMAN			1	280	+		all_hematologic(11;0.196)	75					P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	c.225G>C	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	15.42	2.828970	0.50845	.	.	ENSG00000168274	ENST00000303910	T	0.75050	-0.9	4.07	3.19	0.36642	.	0.000000	0.35495	U	0.003164	T	0.81912	0.4923	M	0.90252	3.1	0.42390	D	0.992526	.	.	.	.	.	.	D	0.85022	0.0912	8	0.72032	D	0.01	.	11.3366	0.49507	0.0904:0.0:0.9096:0.0	.	.	.	.	N	75	ENSP00000303373:K75N	ENSP00000303373:K75N	K	+	3	2	HIST1H2AE	26325406	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	6.285000	0.72658	1.054000	0.40438	-0.157000	0.13467	AAG		PASS	0.617	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		5	67	5	67	---	---	---	---
HIST1H3F	8968	broad.mit.edu	37	6	26250597	26250597	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:26250597G>C	ENST00000446824.2	-	1	238	c.237C>G	c.(235-237)ttC>ttG	p.F79L	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	79					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.F79L(1)		lung(6)|urinary_tract(1)	7						GGTCGGTCTTGAAGTCCTGCG	0.587											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003nhg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(235-237)TTC>TTG		histone cluster 1, H3f							117.0	116.0	117.0					6																	26250597		2203	4300	6503	SO:0001583	missense	8968				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26250597G>C	Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"""Histones / Replication-dependent"""	4773	protein-coding gene	gene with protein product		602816	"""H3 histone family, member I"", ""histone 1, H3f"""	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.237C>G	6.37:g.26250597G>C	ENSP00000444823:p.Phe79Leu		OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	785	HIST1H2BH_uc003nhh.2_5'Flank	p.F79L	NM_021018	NP_066298	P68431	H31_HUMAN			1	239	-			79					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000446824.2	37	c.237C>G	CCDS4600.1	.	.	.	.	.	.	.	.	.	.	.	17.44	3.389582	0.61956	.	.	ENSG00000256316	ENST00000446824	T	0.41758	0.99	4.82	4.82	0.62117	.	.	.	.	.	T	0.55689	0.1936	.	.	.	0.43622	D	0.996005	.	.	.	.	.	.	T	0.60949	-0.7161	6	0.87932	D	0	.	17.7536	0.88442	0.0:0.0:1.0:0.0	.	.	.	.	L	79	ENSP00000444823:F79L	ENSP00000444823:F79L	F	-	3	2	HIST1H3F	26358576	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.687000	0.74552	2.602000	0.87976	0.561000	0.74099	TTC		PASS	0.587	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040098.1	NM_021018		70	99	70	99	---	---	---	---
BTN3A2	11118	broad.mit.edu	37	6	26370746	26370746	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:26370746G>A	ENST00000356386.2	+	5	818	c.630G>A	c.(628-630)atG>atA	p.M210I	BTN3A2_ENST00000527422.1_Missense_Mutation_p.M210I|BTN3A2_ENST00000396948.1_Missense_Mutation_p.M210I|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.M210I|BTN3A2_ENST00000396934.3_Missense_Mutation_p.M187I|BTN3A2_ENST00000508906.2_Missense_Mutation_p.M168I	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	210					interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.M210I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						CTGTGATCATGAGAGGCGGCT	0.547																																						uc010jqh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(628-630)ATG>ATA		butyrophilin, subfamily 3, member A2 precursor							144.0	141.0	142.0					6																	26370746		2203	4300	6503	SO:0001583	missense	11118					integral to membrane		g.chr6:26370746G>A	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.630G>A	6.37:g.26370746G>A	ENSP00000348751:p.Met210Ile					BTN3A2_uc003nho.1_Missense_Mutation_p.M208I|BTN3A2_uc003nhp.2_Missense_Mutation_p.M210I|BTN3A2_uc011dkd.1_Missense_Mutation_p.M168I|BTN3A2_uc011dke.1_Missense_Mutation_p.M187I|BTN3A2_uc010jqi.1_Missense_Mutation_p.M208I	p.M210I	NM_007047	NP_008978	P78410	BT3A2_HUMAN			5	889	+			210			Extracellular (Potential).		B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	37	c.630G>A	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	g	0.041	-1.285468	0.01387	.	.	ENSG00000186470	ENST00000532865;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T	0.75704	-0.96;3.73;3.73;3.73;3.73;3.73;3.73	2.31	-3.59	0.04583	Immunoglobulin-like fold (1);	.	.	.	.	T	0.24392	0.0591	N	0.11892	0.195	0.09310	N	1	B;B	0.22211	0.066;0.04	B;B	0.20577	0.03;0.013	T	0.42050	-0.9474	9	0.02654	T	1	.	11.9586	0.52995	0.0:0.7214:0.2786:0.0	.	187;210	F8W6E0;P78410	.;BT3A2_HUMAN	I	168;210;210;210;187;210;210;168	ENSP00000435952:M168I;ENSP00000432138:M210I;ENSP00000348751:M210I;ENSP00000380140:M187I;ENSP00000366937:M210I;ENSP00000380152:M210I;ENSP00000442687:M168I	ENSP00000348751:M210I	M	+	3	0	BTN3A2	26478725	0.000000	0.05858	0.001000	0.08648	0.317000	0.28152	-0.778000	0.04664	-0.857000	0.04115	0.405000	0.27470	ATG		PASS	0.547	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			10	219	10	219	---	---	---	---
PGBD1	84547	broad.mit.edu	37	6	28254933	28254933	+	Silent	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:28254933A>T	ENST00000405948.2	+	4	1050	c.630A>T	c.(628-630)ccA>ccT	p.P210P	PGBD1_ENST00000259883.3_Silent_p.P210P	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	210						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P210P(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGTTTAACCCAGTCAGGTCCC	0.522																																						uc003nky.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(628-630)CCA>CCT		piggyBac transposable element derived 1							142.0	114.0	123.0					6																	28254933		2203	4300	6503	SO:0001819	synonymous_variant	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28254933A>T	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.630A>T	6.37:g.28254933A>T						PGBD1_uc003nkz.2_Silent_p.P210P	p.P210P	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			4	1000	+			210					Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	c.630A>T	CCDS4648.1																																																																																				PASS	0.522	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			27	71	27	71	---	---	---	---
HLA-A	3105	broad.mit.edu	37	6	29912276	29912276	+	Splice_Site	SNP	G	G	C	rs45540334		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:29912276G>C	ENST00000396634.1	+	7	1236		c.e7-1		HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Splice_Site|HLA-A_ENST00000376806.5_Splice_Site			P16189	1A31_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.?(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCTTTTCCCAGAGCTGTCTTC	0.587									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2																			1	Unknown(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.e5-1		major histocompatibility complex, class I, A							77.0	73.0	74.0					6																	29912276		1511	2709	4220	SO:0001630	splice_region_variant	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29912276G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.896-1G>C	6.37:g.29912276G>C		Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Splice_Site_p.E178_splice|HLA-A_uc003nok.2_Splice_Site_p.E178_splice|HLA-A_uc003non.2_Splice_Site_p.E299_splice|HLA-A_uc003noo.2_Splice_Site_p.E299_splice|HLA-A_uc010jrr.2_Intron|HLA-A_uc003nom.2_Splice_Site_p.E178_splice|HLA-A_uc010klp.2_Intron|HLA-A_uc011dmc.1_Splice_Site_p.E178_splice|HLA-A_uc011dmd.1_Splice_Site_p.E178_splice	p.E299_splice	NM_002116	NP_002107	P30443	1A01_HUMAN			5	896	+								O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Splice_Site	SNP	ENST00000396634.1	37	c.896_splice	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	g	12.53	1.964858	0.34659	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809	.	.	.	3.69	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1517	0.48462	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HLA-A	30020255	0.610000	0.26983	0.642000	0.29436	0.168000	0.22595	1.352000	0.34033	2.070000	0.61991	0.485000	0.47835	.		PASS	0.587	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116	Intron	18	53	18	53	---	---	---	---
NFKBIL1	4795	broad.mit.edu	37	6	31525984	31525984	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:31525984G>A	ENST00000376148.4	+	4	856	c.742G>A	c.(742-744)Gag>Aag	p.E248K	NFKBIL1_ENST00000376145.4_Missense_Mutation_p.E233K	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	248					cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of transcription factor (GO:0042994)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)	cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)		p.E248K(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						GCTCTTCAGGGAGCGAGCCCG	0.697																																						uc003nub.2																			1	Substitution - Missense(1)		lung(1)		0						c.(742-744)GAG>AAG		nuclear factor of kappa light polypeptide gene							15.0	13.0	14.0					6																	31525984		1507	2705	4212	SO:0001583	missense	4795				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:31525984G>A	X77909	CCDS4700.1, CCDS47399.1, CCDS47400.1	6p21.3	2010-02-17			ENSG00000204498	ENSG00000204498			7800	protein-coding gene	gene with protein product		601022		NFKBIL		8081366	Standard	NM_005007		Approved	IKBL	uc003nub.3	Q9UBC1	OTTHUMG00000031038	ENST00000376148.4:c.742G>A	6.37:g.31525984G>A	ENSP00000365318:p.Glu248Lys					NFKBIL1_uc011dnr.1_Missense_Mutation_p.E210K|NFKBIL1_uc011dns.1_Missense_Mutation_p.E225K|NFKBIL1_uc011dnt.1_RNA|NFKBIL1_uc003nuc.2_Missense_Mutation_p.E233K	p.E248K	NM_005007	NP_004998	Q9UBC1	IKBL1_HUMAN			4	861	+			248					A6NL91|B4DUW1|Q14625|Q5HYU4|Q5RJ72|Q5ST96|Q5STV4|Q5STV5|Q9UBX4	Missense_Mutation	SNP	ENST00000376148.4	37	c.742G>A	CCDS4700.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413087	0.42817	.	.	ENSG00000204498	ENST00000376146;ENST00000542852;ENST00000376148;ENST00000376145	T;T;T	0.35605	1.3;1.3;1.3	6.08	6.08	0.98989	.	0.232548	0.43919	D	0.000502	T	0.32041	0.0816	N	0.24115	0.695	0.42940	D	0.994343	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.70227	0.968;0.968;0.968	T	0.03829	-1.1000	10	0.14252	T	0.57	-23.7979	16.1635	0.81734	0.0:0.0:1.0:0.0	.	225;233;248	Q5STV6;Q5STV4;Q9UBC1	.;.;IKBL1_HUMAN	K	225;225;248;233	ENSP00000365316:E225K;ENSP00000365318:E248K;ENSP00000365315:E233K	ENSP00000365315:E233K	E	+	1	0	NFKBIL1	31633963	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	2.506000	0.45433	2.894000	0.99253	0.655000	0.94253	GAG		PASS	0.697	NFKBIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076036.3	NM_005007		5	7	5	7	---	---	---	---
GPANK1	7918	broad.mit.edu	37	6	31631710	31631710	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:31631710C>A	ENST00000375906.1	-	3	1230	c.546G>T	c.(544-546)caG>caT	p.Q182H	GPANK1_ENST00000375896.4_Missense_Mutation_p.Q182H|CSNK2B_ENST00000375866.2_5'Flank|CSNK2B-LY6G5B-1181_ENST00000375880.2_5'Flank|GPANK1_ENST00000375895.2_Missense_Mutation_p.Q182H|CSNK2B_ENST00000375885.4_5'Flank|CSNK2B_ENST00000375865.2_5'Flank|CSNK2B_ENST00000375882.2_5'Flank|GPANK1_ENST00000375893.2_Missense_Mutation_p.Q182H|GPANK1_ENST00000375900.4_Missense_Mutation_p.Q182H|Y_RNA_ENST00000364337.1_RNA	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	182							nucleic acid binding (GO:0003676)	p.Q182H(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						CTTCAGCGAGCTGAGCCGCAT	0.642																																						uc003nvn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(544-546)CAG>CAT		HLA-B associated transcript 4							49.0	51.0	50.0					6																	31631710		2203	4300	6503	SO:0001583	missense	7918					intracellular	nucleic acid binding	g.chr6:31631710C>A		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"""Ankyrin repeat domain containing"", ""G patch domain containing"""	13920	protein-coding gene	gene with protein product	"""G patch domain containing 10"", ""ankyrin repeat domain 59"""	142610	"""HLA-B associated transcript 4"""	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.546G>T	6.37:g.31631710C>A	ENSP00000365071:p.Gln182His					BAT4_uc003nvo.3_Missense_Mutation_p.Q182H|BAT4_uc003nvp.3_Missense_Mutation_p.Q182H|BAT4_uc003nvq.2_Missense_Mutation_p.Q182H|CSNK2B_uc010jsz.1_5'Flank|CSNK2B_uc010jta.1_5'Flank|CSNK2B_uc003nvr.1_5'Flank|CSNK2B_uc003nvs.1_5'Flank	p.Q182H	NM_033177	NP_149417	O95872	GPAN1_HUMAN			2	1191	-			182					A6NG25|B0UXA2|Q5SQ49	Missense_Mutation	SNP	ENST00000375906.1	37	c.546G>T	CCDS4711.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548073	0.65311	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900;ENST00000440842	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.25	2.53	0.30540	Ankyrin repeat-containing domain (3);	0.273373	0.35291	N	0.003310	T	0.21550	0.0519	N	0.01742	-0.745	0.38220	D	0.940728	D	0.65815	0.995	D	0.63597	0.916	T	0.10382	-1.0632	10	0.21540	T	0.41	-9.7298	7.347	0.26668	0.0:0.6568:0.0:0.3432	.	182	O95872	GPAN1_HUMAN	H	182	ENSP00000365071:Q182H;ENSP00000365060:Q182H;ENSP00000365057:Q182H;ENSP00000365059:Q182H;ENSP00000365065:Q182H	ENSP00000365057:Q182H	Q	-	3	2	GPANK1	31739689	0.992000	0.36948	0.998000	0.56505	0.876000	0.50452	0.121000	0.15667	0.232000	0.21100	0.561000	0.74099	CAG		PASS	0.642	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		25	32	25	32	---	---	---	---
DDAH2	23564	broad.mit.edu	37	6	31695431	31695431	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:31695431C>G	ENST00000375789.2	-	5	1260	c.630G>C	c.(628-630)ctG>ctC	p.L210L	DDAH2_ENST00000375787.2_Silent_p.L210L|DDAH2_ENST00000375792.3_Silent_p.L210L|DDAH2_ENST00000480913.1_5'UTR			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	210					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|negative regulation of apoptotic process (GO:0043066)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of nitric oxide biosynthetic process (GO:0045429)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)	p.L210L(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	CTGGGAGGGTCAGGGAGGCAT	0.577																																						uc003nwp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(628-630)CTG>CTC		dimethylarginine dimethylaminohydrolase 2	L-Citrulline(DB00155)						163.0	138.0	147.0					6																	31695431		1511	2709	4220	SO:0001819	synonymous_variant	23564				anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding	g.chr6:31695431C>G	AF070667	CCDS4718.1	6p21	2010-02-17			ENSG00000213722	ENSG00000213722	3.5.3.18		2716	protein-coding gene	gene with protein product		604744				10493931	Standard	XM_005248974		Approved		uc003nwq.3	O95865	OTTHUMG00000031212	ENST00000375789.2:c.630G>C	6.37:g.31695431C>G						DDAH2_uc003nwq.2_Silent_p.L210L	p.L210L	NM_013974	NP_039268	O95865	DDAH2_HUMAN			5	1261	-			210					A2BEZ7	Silent	SNP	ENST00000375789.2	37	c.630G>C	CCDS4718.1																																																																																				PASS	0.577	DDAH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076432.2			6	164	6	164	---	---	---	---
DDAH2	23564	broad.mit.edu	37	6	31696795	31696795	+	Silent	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:31696795C>A	ENST00000375789.2	-	1	774	c.144G>T	c.(142-144)ctG>ctT	p.L48L	DDAH2_ENST00000375787.2_Silent_p.L48L|DDAH2_ENST00000375792.3_Silent_p.L48L|DDAH2_ENST00000480913.1_Intron			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	48					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|negative regulation of apoptotic process (GO:0043066)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of nitric oxide biosynthetic process (GO:0045429)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)	p.L48L(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	GTTTACCTCCCAGCACCCCGT	0.652																																						uc003nwp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(142-144)CTG>CTT		dimethylarginine dimethylaminohydrolase 2	L-Citrulline(DB00155)						108.0	72.0	85.0					6																	31696795		1511	2709	4220	SO:0001819	synonymous_variant	23564				anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding	g.chr6:31696795C>A	AF070667	CCDS4718.1	6p21	2010-02-17			ENSG00000213722	ENSG00000213722	3.5.3.18		2716	protein-coding gene	gene with protein product		604744				10493931	Standard	XM_005248974		Approved		uc003nwq.3	O95865	OTTHUMG00000031212	ENST00000375789.2:c.144G>T	6.37:g.31696795C>A						DDAH2_uc003nwq.2_Silent_p.L48L	p.L48L	NM_013974	NP_039268	O95865	DDAH2_HUMAN			1	775	-			48					A2BEZ7	Silent	SNP	ENST00000375789.2	37	c.144G>T	CCDS4718.1																																																																																				PASS	0.652	DDAH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076432.2			7	91	7	91	---	---	---	---
MSH5	4439	broad.mit.edu	37	6	31709041	31709041	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:31709041G>C	ENST00000375755.3	+	3	535	c.249G>C	c.(247-249)gaG>gaC	p.E83D	CLIC1_ENST00000395892.1_5'Flank|MSH5_ENST00000375750.3_Missense_Mutation_p.E83D|MSH5_ENST00000375742.3_Missense_Mutation_p.E83D|MSH5_ENST00000534153.4_Missense_Mutation_p.E83D|MSH5_ENST00000375703.3_Missense_Mutation_p.E83D|MSH5_ENST00000482280.1_3'UTR|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.E83D|MSH5_ENST00000375740.3_Missense_Mutation_p.E83D	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	83					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.E83D(2)		breast(1)|ovary(2)|skin(2)	5						CAGACCACGAGAGCCTCAAGC	0.502								Direct reversal of damage;Mismatch excision repair (MMR)																														uc003nwv.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(247-249)GAG>GAC	Direct_reversal_of_damage|MMR	mutS homolog 5 isoform c							245.0	221.0	230.0					6																	31709041		1511	2709	4220	SO:0001583	missense	4439				chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr6:31709041G>C	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.249G>C	6.37:g.31709041G>C	ENSP00000364908:p.Glu83Asp					MSH5_uc003nwt.1_Missense_Mutation_p.E83D|MSH5_uc003nwu.1_Missense_Mutation_p.E83D|MSH5_uc003nww.1_Missense_Mutation_p.E83D|MSH5_uc003nwx.1_Missense_Mutation_p.E83D	p.E83D	NM_172166	NP_751898	O43196	MSH5_HUMAN			3	328	+			83					B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	c.249G>C	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443270	0.25987	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000425703;ENST00000534153;ENST00000375703;ENST00000375740	T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.03	0.669	0.17918	.	0.667505	0.15243	N	0.272766	T	0.05090	0.0136	N	0.19112	0.55	0.32642	N	0.520547	B;B;B;B	0.09022	0.001;0.0;0.0;0.002	B;B;B;B	0.09377	0.002;0.001;0.002;0.004	T	0.31724	-0.9933	9	0.13470	T	0.59	-23.154	0.5875	0.00722	0.2842:0.1603:0.3661:0.1894	.	83;83;83;83	O43196-4;O43196;O43196-2;O43196-3	.;MSH5_HUMAN;.;.	D	83	ENSP00000364908:E83D;ENSP00000364894:E83D;ENSP00000364903:E83D;ENSP00000402842:E83D;ENSP00000431693:E83D;ENSP00000364855:E83D;ENSP00000364892:E83D	ENSP00000364855:E83D	E	+	3	2	MSH5	31817020	0.984000	0.35163	0.996000	0.52242	0.995000	0.86356	0.094000	0.15107	0.507000	0.28148	0.650000	0.86243	GAG		PASS	0.502	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			73	152	73	152	---	---	---	---
NOTCH4	4855	broad.mit.edu	37	6	32163487	32163487	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:32163487G>A	ENST00000375023.3	-	30	5877	c.5739C>T	c.(5737-5739)ggC>ggT	p.G1913G	NOTCH4_ENST00000443903.2_3'UTR|GPSM3_ENST00000375040.3_5'Flank|GPSM3_ENST00000375043.3_5'Flank|GPSM3_ENST00000487761.1_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1913					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.G1913G(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AAAACCTACGGCCGCGAGGGG	0.682																																						uc003obb.2																			1	Substitution - coding silent(1)		lung(1)	lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(5737-5739)GGC>GGT		notch4 preproprotein							38.0	44.0	42.0					6																	32163487		1508	2708	4216	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32163487G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5739C>T	6.37:g.32163487G>A						GPSM3_uc003oax.3_5'Flank|GPSM3_uc003oay.3_5'Flank|GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_3'UTR|NOTCH4_uc003oba.2_Silent_p.G573G|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	p.G1913G	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			30	5878	-			1913			Cytoplasmic (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.5739C>T	CCDS34420.1																																																																																				PASS	0.682	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			42	45	42	45	---	---	---	---
RPS18	6222	broad.mit.edu	37	6	33244195	33244195	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:33244195G>C	ENST00000439602.2	+	6	521	c.411G>C	c.(409-411)aaG>aaC	p.K137N	B3GALT4_ENST00000451237.1_5'Flank|RPS18_ENST00000476222.1_3'UTR|RPS18_ENST00000474973.1_Missense_Mutation_p.K67N			P62269	RS18_HUMAN	ribosomal protein S18	137					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.K137N(1)		kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						AGCACACCAAGACCACTGGCC	0.493																																						uc003odp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(409-411)AAG>AAC		ribosomal protein S18							38.0	40.0	39.0					6																	33244195		2203	4300	6503	SO:0001583	missense	6222				endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr6:33244195G>C	X69150	CCDS4771.1	6p21.3	2011-04-05			ENSG00000231500	ENSG00000231500		"""S ribosomal proteins"""	10401	protein-coding gene	gene with protein product		180473		D6S218E		8441687, 9582194	Standard	NM_022551		Approved	KE3, KE-3, HKE3, S18	uc003odp.1	P62269	OTTHUMG00000031053	ENST00000439602.2:c.411G>C	6.37:g.33244195G>C	ENSP00000393241:p.Lys137Asn					RPS18_uc010jum.1_RNA|RPS18_uc003odq.1_RNA|B3GALT4_uc003odr.2_5'Flank	p.K137N	NM_022551	NP_072045	P62269	RS18_HUMAN			6	456	+			137					P25232|Q5SUJ3|Q6IPF8	Missense_Mutation	SNP	ENST00000439602.2	37	c.411G>C	CCDS4771.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089727	0.55968	.	.	ENSG00000231500	ENST00000439602;ENST00000474973	.	.	.	4.48	4.48	0.54585	Ribosomal protein S13-like, H2TH (1);	0.120005	0.56097	D	0.000029	D	0.88016	0.6324	H	0.99555	4.625	0.51767	D	0.999939	P	0.37824	0.609	P	0.54664	0.758	D	0.90754	0.4659	9	0.87932	D	0	.	12.5943	0.56459	0.0:0.0:1.0:0.0	.	137	P62269	RS18_HUMAN	N	137;67	.	ENSP00000393241:K137N	K	+	3	2	RPS18	33352173	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.171000	0.64996	2.348000	0.79779	0.472000	0.43445	AAG		PASS	0.493	RPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076059.2			13	12	13	12	---	---	---	---
RGL2	5863	broad.mit.edu	37	6	33261388	33261388	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:33261388A>G	ENST00000497454.1	-	14	2092	c.1597T>C	c.(1597-1599)Tgg>Cgg	p.W533R	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_3'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	533					positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.W533R(1)		breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CACTCTGTCCACTGCGAGATG	0.582																																						uc003odv.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(1)|breast(1)|pancreas(1)	6						c.(1597-1599)TGG>CGG		ral guanine nucleotide dissociation							57.0	60.0	59.0					6																	33261388		2203	4300	6503	SO:0001583	missense	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33261388A>G		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1597T>C	6.37:g.33261388A>G	ENSP00000420211:p.Trp533Arg					RGL2_uc003odu.2_Missense_Mutation_p.W93R|RGL2_uc010jur.2_Missense_Mutation_p.W93R|RGL2_uc003odw.2_Missense_Mutation_p.W451R|RGL2_uc011drb.1_3'UTR	p.W533R	NM_004761	NP_004752	O15211	RGL2_HUMAN			14	1730	-			533					B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	c.1597T>C	CCDS4774.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.818490	0.50633	.	.	ENSG00000237441	ENST00000497454;ENST00000421215	T	0.11277	2.79	4.37	4.37	0.52481	Ras guanine nucleotide exchange factor, domain (1);	0.077686	0.53938	D	0.000051	T	0.16128	0.0388	L	0.59436	1.845	0.80722	D	1	D	0.61697	0.99	D	0.70487	0.969	T	0.00630	-1.1636	10	0.51188	T	0.08	.	9.9062	0.41377	1.0:0.0:0.0:0.0	.	533	O15211	RGL2_HUMAN	R	533;397	ENSP00000420211:W533R	ENSP00000400083:W397R	W	-	1	0	RGL2	33369366	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.098000	0.64548	1.834000	0.53371	0.368000	0.22195	TGG		PASS	0.582	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			15	81	15	81	---	---	---	---
ZBTB22	9278	broad.mit.edu	37	6	33281611	33281611	+	IGR	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:33281611G>C	ENST00000431845.2	-	0	2651				TAPBP_ENST00000489157.1_Missense_Mutation_p.A23G|TAPBP_ENST00000426633.2_Missense_Mutation_p.A23G|TAPBP_ENST00000434618.2_Missense_Mutation_p.A23G|TAPBP_ENST00000456592.2_Missense_Mutation_p.A23G|TAPBP_ENST00000475304.1_Missense_Mutation_p.A23G	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22						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.A23G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CTCGATCACCGCGGGTCCTGC	0.672																																						uc003odx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(67-69)GCG>GGG		tapasin isoform 1 precursor							43.0	47.0	45.0					6																	33281611		2203	4298	6501	SO:0001628	intergenic_variant	6892				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	g.chr6:33281611G>C	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110		6.37:g.33281611G>C						TAPBP_uc010jus.1_Missense_Mutation_p.A23G|TAPBP_uc003ody.2_Missense_Mutation_p.A23G|TAPBP_uc003odz.2_Missense_Mutation_p.A23G|TAPBP_uc010jut.1_Missense_Mutation_p.A23G|TAPBP_uc011drc.1_Missense_Mutation_p.A23G	p.A23G	NM_003190	NP_003181	O15533	TPSN_HUMAN			2	239	-			23			Lumenal (Potential).		B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.68C>G	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660905	0.29515	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540;ENST00000458089;ENST00000437741	T;T;T;T;T	0.32988	1.46;1.45;1.44;1.43;1.46	4.06	2.01	0.26516	.	0.355878	0.29602	N	0.011681	T	0.08358	0.0208	L	0.35723	1.085	0.09310	N	1	B;B;B;B;B;B	0.15930	0.001;0.003;0.015;0.002;0.0;0.001	B;B;B;B;B;B	0.10450	0.001;0.002;0.005;0.002;0.002;0.001	T	0.27297	-1.0078	10	0.52906	T	0.07	-5.9207	5.9283	0.19124	0.0:0.1841:0.5339:0.282	.	23;23;23;23;23;23	G5E9H8;E9PGM2;A2AB90;O15533-3;G3V0I4;O15533	.;.;.;.;.;TPSN_HUMAN	G	23	ENSP00000395701:A23G;ENSP00000417949:A23G;ENSP00000419659:A23G;ENSP00000404833:A23G;ENSP00000387803:A23G	ENSP00000404833:A23G	A	-	2	0	TAPBP	33389589	0.000000	0.05858	0.001000	0.08648	0.440000	0.31957	0.339000	0.19875	0.333000	0.23563	0.478000	0.44815	GCG		PASS	0.672	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			25	37	25	37	---	---	---	---
C6orf106	64771	broad.mit.edu	37	6	34574439	34574439	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:34574439G>A	ENST00000374023.3	-	4	997	c.754C>T	c.(754-756)Cct>Tct	p.P252S	C6orf106_ENST00000374026.3_Missense_Mutation_p.P186S|C6orf106_ENST00000374021.1_Missense_Mutation_p.P178S	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	252								p.P252S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						TCAGGAGCAGGAGCCCATGTG	0.483																																						uc003ojr.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(754-756)CCT>TCT		chromosome 6 open reading frame 106 isoform a							96.0	96.0	96.0					6																	34574439		2203	4300	6503	SO:0001583	missense	64771							g.chr6:34574439G>A	AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821			21215	protein-coding gene	gene with protein product		612217					Standard	XM_005249298		Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.754C>T	6.37:g.34574439G>A	ENSP00000363135:p.Pro252Ser					C6orf106_uc003ojs.2_Missense_Mutation_p.P186S	p.P252S	NM_024294	NP_077270	Q9H6K1	CF106_HUMAN			4	999	-			252					B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Missense_Mutation	SNP	ENST00000374023.3	37	c.754C>T	CCDS4796.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804680	0.50315	.	.	ENSG00000196821	ENST00000374023;ENST00000374026;ENST00000374021	.	.	.	5.18	5.18	0.71444	.	0.202517	0.45867	D	0.000327	T	0.40247	0.1109	L	0.44542	1.39	0.45415	D	0.998393	P;B	0.40731	0.728;0.386	B;B	0.41036	0.346;0.085	T	0.29852	-0.9998	9	0.15066	T	0.55	-4.5129	19.0466	0.93022	0.0:0.0:1.0:0.0	.	186;252	Q9H6K1-2;Q9H6K1	.;CF106_HUMAN	S	252;186;178	.	ENSP00000363133:P178S	P	-	1	0	C6orf106	34682417	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	0.345000	0.19979	2.569000	0.86673	0.561000	0.74099	CCT		PASS	0.483	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040251.1	NM_022758		18	137	18	137	---	---	---	---
SLC26A8	116369	broad.mit.edu	37	6	35919038	35919038	+	Missense_Mutation	SNP	C	C	T	rs115071158		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:35919038C>T	ENST00000490799.1	-	19	2727	c.2374G>A	c.(2374-2376)Gtg>Atg	p.V792M	SLC26A8_ENST00000394602.2_Missense_Mutation_p.V687M|SLC26A8_ENST00000355574.2_Missense_Mutation_p.V792M	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.V792M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GCAAACAGCACGGCGTCGTGA	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		18466	0.0		0.001	False		,,,				2504	0.0					uc003olm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2374-2376)GTG>ATG		solute carrier family 26, member 8 isoform a		C	MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	117.0	102.0	107.0		2374,2374,2059	4.9	0.9	6	dbSNP_132	107	0,8600		0,0,4300	no	missense,missense,missense	SLC26A8	NM_001193476.1,NM_052961.3,NM_138718.2	21,21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	792/971,792/971,687/866	35919038	1,13005	2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35919038C>T	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2374G>A	6.37:g.35919038C>T	ENSP00000417638:p.Val792Met					SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.V374M|SLC26A8_uc003oln.2_Missense_Mutation_p.V792M|SLC26A8_uc003oll.2_Missense_Mutation_p.V687M	p.V792M	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN			19	2485	-			792			Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000490799.1	37	c.2374G>A	CCDS4813.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.09	1.832364	0.32421	2.27E-4	0.0	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.98075	-4.33;-4.7;-4.33	5.75	4.88	0.63580	Sulphate transporter/antisigma-factor antagonist STAS (1);	0.243932	0.29218	N	0.012783	D	0.92420	0.7594	L	0.41961	1.31	0.30441	N	0.776239	P;P;P	0.43352	0.462;0.454;0.804	B;B;B	0.38378	0.058;0.086;0.272	D	0.89582	0.3821	10	0.52906	T	0.07	.	10.9472	0.47308	0.0:0.9135:0.0:0.0865	.	792;687;374	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	M	792;687;792	ENSP00000417638:V792M;ENSP00000378100:V687M;ENSP00000347778:V792M	ENSP00000347778:V792M	V	-	1	0	SLC26A8	36027016	0.946000	0.32159	0.924000	0.36721	0.378000	0.30076	1.860000	0.39428	1.428000	0.47296	-0.137000	0.14449	GTG		PASS	0.488	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			55	65	55	65	---	---	---	---
BRPF3	27154	broad.mit.edu	37	6	36168502	36168502	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:36168502G>C	ENST00000357641.6	+	2	656	c.403G>C	c.(403-405)Gct>Cct	p.A135P	BRPF3_ENST00000543502.1_Missense_Mutation_p.A135P|BRPF3_ENST00000534400.1_Missense_Mutation_p.A135P|BRPF3_ENST00000443324.2_Missense_Mutation_p.A135P|BRPF3_ENST00000534694.1_Missense_Mutation_p.A135P|BRPF3_ENST00000339717.7_Missense_Mutation_p.A135P	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	135					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.A135P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCCGCTGCCTGCTGCCTACTA	0.567																																						uc003olv.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(403-405)GCT>CCT		bromodomain and PHD finger containing, 3							86.0	77.0	80.0					6																	36168502		2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36168502G>C	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.403G>C	6.37:g.36168502G>C	ENSP00000350267:p.Ala135Pro					BRPF3_uc010jwb.2_Missense_Mutation_p.A135P|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.A135P	p.A135P	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN			2	627	+			135					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.403G>C	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.763100	0.31228	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.63	5.63	0.86233	Enhancer of polycomb-like, N-terminal (1);	0.178548	0.50627	D	0.000120	T	0.25901	0.0631	N	0.17312	0.475	0.39285	D	0.964632	P;P;D	0.54397	0.771;0.771;0.966	B;B;P	0.57679	0.425;0.425;0.825	T	0.04650	-1.0936	10	0.18710	T	0.47	.	10.5837	0.45269	0.0708:0.0:0.7954:0.1337	.	135;135;135	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	P	135	ENSP00000350267:A135P;ENSP00000345419:A135P;ENSP00000434501:A135P;ENSP00000445352:A135P;ENSP00000387368:A135P;ENSP00000436504:A135P	ENSP00000345419:A135P	A	+	1	0	BRPF3	36276480	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.803000	0.47924	2.666000	0.90696	0.558000	0.71614	GCT		PASS	0.567	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		63	80	63	80	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38840393	38840393	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:38840393C>G	ENST00000359357.3	+	48	6675	c.6421C>G	c.(6421-6423)Cta>Gta	p.L2141V	DNAH8_ENST00000441566.1_Missense_Mutation_p.L2105V|DNAH8_ENST00000449981.2_Missense_Mutation_p.L2358V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2141	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.L2141V(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATCACGATTCTAATGAAGGC	0.458																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(6421-6423)CTA>GTA		dynein, axonemal, heavy polypeptide 8							112.0	107.0	108.0					6																	38840393		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38840393C>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6421C>G	6.37:g.38840393C>G	ENSP00000352312:p.Leu2141Val						p.L2141V	NM_001371	NP_001362					48	7021	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.6421C>G		.	.	.	.	.	.	.	.	.	.	C	12.17	1.856866	0.32791	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.57273	0.41;0.41;0.41	5.62	2.85	0.33270	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.64402	D	0.000003	T	0.66982	0.2845	M	0.92169	3.28	0.44946	D	0.997965	D	0.71674	0.998	D	0.68353	0.957	T	0.72124	-0.4385	10	0.87932	D	0	.	8.1261	0.30999	0.0:0.6529:0.0:0.3471	.	2141	Q96JB1	DYH8_HUMAN	V	2346;2346;2141;2105	ENSP00000333363:L2346V;ENSP00000352312:L2141V;ENSP00000402294:L2105V	ENSP00000333363:L2346V	L	+	1	2	DNAH8	38948371	0.013000	0.17824	0.787000	0.31911	0.030000	0.12068	0.290000	0.18975	0.834000	0.34852	0.655000	0.94253	CTA		PASS	0.458	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		78	120	78	120	---	---	---	---
TREM2	54209	broad.mit.edu	37	6	41129307	41129307	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:41129307C>T	ENST00000373113.3	-	2	178	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	TREM2_ENST00000338469.3_Missense_Mutation_p.G29S|TREM2_ENST00000373122.4_Missense_Mutation_p.G29S	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	29	Ig-like V-type.				axon guidance (GO:0007411)|dendritic cell differentiation (GO:0097028)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of C-C chemokine receptor CCR7 signaling pathway (GO:1903082)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of CD40 signaling pathway (GO:2000350)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to plasma membrane (GO:1903078)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.G29S(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGGGACTGGCCCGCCACGCCC	0.602																																						uc003opy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(85-87)GGC>AGC		triggering receptor expressed on myeloid cells 2							37.0	35.0	36.0					6																	41129307		2203	4300	6503	SO:0001583	missense	54209				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr6:41129307C>T	AF213457	CCDS4852.1, CCDS64422.1	6p21.1	2014-09-17	2002-08-15		ENSG00000095970	ENSG00000095970		"""Immunoglobulin superfamily / V-set domain containing"""	17761	protein-coding gene	gene with protein product		605086	"""triggering receptor expressed on myeloid cells 2a"""			10799849, 12080485	Standard	NM_001271821		Approved	TREM-2, Trem2a, Trem2b, Trem2c	uc003opy.3	Q9NZC2	OTTHUMG00000014671	ENST00000373113.3:c.85G>A	6.37:g.41129307C>T	ENSP00000362205:p.Gly29Ser					TREM2_uc003opz.2_Missense_Mutation_p.G59S|TREM2_uc010jxl.1_Missense_Mutation_p.G59S	p.G29S	NM_018965	NP_061838	Q9NZC2	TREM2_HUMAN			2	187	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		29			Ig-like V-type.|Extracellular (Potential).		Q8N5H8|Q8WYN6	Missense_Mutation	SNP	ENST00000373113.3	37	c.85G>A	CCDS4852.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545751	0.65198	.	.	ENSG00000095970	ENST00000373113;ENST00000338469;ENST00000373122	T;T;T	0.81078	-1.45;-1.45;-1.45	5.51	5.51	0.81932	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	D	0.90535	0.7034	M	0.89968	3.075	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.92068	0.5662	10	0.87932	D	0	-37.116	16.5756	0.84635	0.0:1.0:0.0:0.0	.	29;29;29	Q9NZC2-2;Q9NZC2-3;Q9NZC2	.;.;TREM2_HUMAN	S	29	ENSP00000362205:G29S;ENSP00000342651:G29S;ENSP00000362214:G29S	ENSP00000342651:G29S	G	-	1	0	TREM2	41237285	0.991000	0.36638	0.954000	0.39281	0.090000	0.18270	4.054000	0.57434	2.599000	0.87857	0.561000	0.74099	GGC		PASS	0.602	TREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040499.1	NM_018965		3	33	3	33	---	---	---	---
BYSL	705	broad.mit.edu	37	6	41897925	41897925	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:41897925G>C	ENST00000230340.4	+	3	862	c.487G>C	c.(487-489)Gag>Cag	p.E163Q		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	163					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E163Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GACAGAGGTTGAGACAGTCAT	0.607																																						uc003orl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(487-489)GAG>CAG		bystin							71.0	71.0	71.0					6																	41897925		2203	4300	6503	SO:0001583	missense	705				cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus		g.chr6:41897925G>C	L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.487G>C	6.37:g.41897925G>C	ENSP00000230340:p.Glu163Gln						p.E163Q	NM_004053	NP_004044	Q13895	BYST_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	823	+	Colorectal(47;0.121)		163					Q6P5W4|Q86W44|Q96IP8	Missense_Mutation	SNP	ENST00000230340.4	37	c.487G>C	CCDS34450.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299925	0.40694	.	.	ENSG00000112578	ENST00000230340	T	0.42900	0.96	5.93	5.06	0.68205	.	0.094665	0.64402	D	0.000001	T	0.09113	0.0225	N	0.05050	-0.12	0.44104	D	0.996876	B	0.14012	0.009	B	0.22880	0.042	T	0.15867	-1.0422	10	0.12430	T	0.62	-11.8243	11.2491	0.49015	0.0703:0.1282:0.8015:0.0	.	163	Q13895	BYST_HUMAN	Q	163	ENSP00000230340:E163Q	ENSP00000230340:E163Q	E	+	1	0	BYSL	42005903	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.596000	0.74113	1.505000	0.48720	0.549000	0.68633	GAG		PASS	0.607	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040535.2			23	83	23	83	---	---	---	---
C6orf226	441150	broad.mit.edu	37	6	42858370	42858370	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:42858370G>C	ENST00000408925.2	-	1	184	c.157C>G	c.(157-159)Cgg>Ggg	p.R53G		NM_001008739.1	NP_001008739.1	Q5I0X4	CF226_HUMAN	chromosome 6 open reading frame 226	53								p.R53G(2)		lung(2)	2						CGCGGCAGCCGGGACGCTGTG	0.711																																						uc003osw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(157-159)CGG>GGG		hypothetical protein LOC441150							31.0	38.0	36.0					6																	42858370		1911	4104	6015	SO:0001583	missense	441150							g.chr6:42858370G>C	BC051007, BC060325	CCDS43463.1	6p21.1	2009-02-11			ENSG00000221821	ENSG00000221821			34431	protein-coding gene	gene with protein product							Standard	NM_001008739		Approved	LOC441150	uc003osw.3	Q5I0X4	OTTHUMG00000156926	ENST00000408925.2:c.157C>G	6.37:g.42858370G>C	ENSP00000386146:p.Arg53Gly						p.R53G	NM_001008739	NP_001008739	Q5I0X4	CF226_HUMAN			1	185	-			53						Missense_Mutation	SNP	ENST00000408925.2	37	c.157C>G	CCDS43463.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.346733	0.24426	.	.	ENSG00000221821	ENST00000408925	.	.	.	5.15	4.27	0.50696	.	0.978663	0.08325	N	0.963158	T	0.11110	0.0271	N	0.19112	0.55	0.09310	N	1	P	0.35226	0.491	B	0.31614	0.133	T	0.21280	-1.0250	9	0.45353	T	0.12	-3.656	11.1871	0.48664	0.0:0.2069:0.7931:0.0	.	53	Q5I0X4	CF226_HUMAN	G	53	.	ENSP00000386146:R53G	R	-	1	2	C6orf226	42966348	0.160000	0.22878	0.031000	0.17742	0.259000	0.26198	1.670000	0.37502	1.368000	0.46115	0.561000	0.74099	CGG		PASS	0.711	C6orf226-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346635.1	NM_001008739		9	65	9	65	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43156308	43156308	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:43156308C>G	ENST00000252050.4	+	8	2119	c.2035C>G	c.(2035-2037)Cag>Gag	p.Q679E	CUL9_ENST00000354495.3_Missense_Mutation_p.Q569E|CUL9_ENST00000372647.2_Missense_Mutation_p.Q679E	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	679					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.Q679E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTCCCTGGATCAGCATGTGGC	0.567																																						uc003ouk.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(2035-2037)CAG>GAG		p53-associated parkin-like cytoplasmic protein							52.0	49.0	50.0					6																	43156308		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43156308C>G	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2035C>G	6.37:g.43156308C>G	ENSP00000252050:p.Gln679Glu					CUL9_uc003ouj.1_3'UTR|CUL9_uc003oul.2_Missense_Mutation_p.Q679E|CUL9_uc010jyk.2_Translation_Start_Site|CUL9_uc003oum.1_3'UTR	p.Q679E	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			8	2110	+			679					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.2035C>G	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818137	0.32145	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73047	-0.71;1.23;-0.61	4.81	3.93	0.45458	Armadillo-type fold (1);	0.719046	0.12718	N	0.444960	T	0.29588	0.0738	N	0.19112	0.55	0.29567	N	0.850192	P;P	0.48764	0.915;0.915	B;B	0.37198	0.243;0.243	T	0.01316	-1.1387	10	0.20519	T	0.43	-9.6602	7.9976	0.30277	0.1828:0.6406:0.1765:0.0	.	679;679	E9PEZ1;Q8IWT3	.;CUL9_HUMAN	E	679;569;679	ENSP00000252050:Q679E;ENSP00000346490:Q569E;ENSP00000361730:Q679E	ENSP00000252050:Q679E	Q	+	1	0	CUL9	43264286	1.000000	0.71417	0.999000	0.59377	0.551000	0.35334	1.451000	0.35145	1.218000	0.43458	-0.302000	0.09304	CAG		PASS	0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		9	74	9	74	---	---	---	---
TJAP1	93643	broad.mit.edu	37	6	43472568	43472568	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:43472568C>G	ENST00000372445.5	+	11	1025	c.649C>G	c.(649-651)Cct>Gct	p.P217A	TJAP1_ENST00000438588.2_Missense_Mutation_p.P217A|TJAP1_ENST00000436109.2_Missense_Mutation_p.P207A|TJAP1_ENST00000372444.2_Missense_Mutation_p.P207A|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000259751.1_Missense_Mutation_p.P207A|TJAP1_ENST00000372452.1_Missense_Mutation_p.P207A|TJAP1_ENST00000372449.1_Missense_Mutation_p.P217A	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	217					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)		p.P207A(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGCCCAGGTCCTGCTCCCAG	0.572																																						uc003ovd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(649-651)CCT>GCT		tight junction associated protein 1 isoform a							114.0	119.0	117.0					6																	43472568		2203	4300	6503	SO:0001583	missense	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43472568C>G	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.649C>G	6.37:g.43472568C>G	ENSP00000361522:p.Pro217Ala					TJAP1_uc003ovf.2_Missense_Mutation_p.P207A|TJAP1_uc003ove.2_Missense_Mutation_p.P207A|TJAP1_uc003ovc.2_Missense_Mutation_p.P207A|TJAP1_uc010jyp.2_Missense_Mutation_p.P176A|TJAP1_uc011dvh.1_Missense_Mutation_p.P207A|TJAP1_uc003ovg.2_Missense_Mutation_p.P83A|TJAP1_uc011dvi.1_Missense_Mutation_p.P217A|TJAP1_uc011dvj.1_Missense_Mutation_p.P17A|TJAP1_uc003ovi.2_Missense_Mutation_p.P83A	p.P217A	NM_001146016	NP_001139488	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		11	1025	+	all_lung(25;0.00536)		217					Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	c.649C>G	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	C	7.583	0.669190	0.14776	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.38	2.65	0.31530	.	0.287586	0.39909	N	0.001232	T	0.17408	0.0418	L	0.54323	1.7	0.31609	N	0.651705	P;P	0.37207	0.587;0.51	B;B	0.36464	0.225;0.066	T	0.08106	-1.0738	10	0.19147	T	0.46	-14.6714	10.1554	0.42820	0.0:0.7835:0.0:0.2165	.	217;207	Q5JTD0;Q5JTD0-2	TJAP1_HUMAN;.	A	207;217;207;207;207;207;217;217	ENSP00000361521:P207A;ENSP00000361522:P217A;ENSP00000407080:P207A;ENSP00000259751:P207A;ENSP00000361530:P207A;ENSP00000361527:P217A;ENSP00000408769:P217A	ENSP00000259751:P207A	P	+	1	0	TJAP1	43580546	0.022000	0.18835	0.006000	0.13384	0.446000	0.32137	0.368000	0.20399	0.643000	0.30638	-0.263000	0.10527	CCT		PASS	0.572	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		4	258	4	258	---	---	---	---
CDC5L	988	broad.mit.edu	37	6	44360434	44360434	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:44360434G>T	ENST00000371477.3	+	3	479	c.180G>T	c.(178-180)aaG>aaT	p.K60N		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	60	HTH myb-type 2. {ECO:0000255|PROSITE- ProRule:PRU00625}.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)	p.K60N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCATTAAGAAGACAGAATGGT	0.393																																						uc003oxl.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|kidney(1)|skin(1)	6						c.(178-180)AAG>AAT		CDC5-like							63.0	60.0	61.0					6																	44360434		2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44360434G>T	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.180G>T	6.37:g.44360434G>T	ENSP00000360532:p.Lys60Asn						p.K60N	NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	439	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		60			HTH myb-type 2.		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.180G>T	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621883	0.66787	.	.	ENSG00000096401	ENST00000371477	T	0.57273	0.41	5.64	2.08	0.27032	Transcription regulator HTH, Myb-type, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.085636	0.85682	D	0.000000	T	0.52191	0.1719	L	0.54908	1.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55655	-0.8107	10	0.72032	D	0.01	-26.2953	8.036	0.30493	0.5893:0.0:0.4107:0.0	.	60	Q99459	CDC5L_HUMAN	N	60	ENSP00000360532:K60N	ENSP00000360532:K60N	K	+	3	2	CDC5L	44468412	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.232000	0.32636	0.439000	0.26476	-0.312000	0.09012	AAG		PASS	0.393	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			11	53	11	53	---	---	---	---
PLA2G7	7941	broad.mit.edu	37	6	46678382	46678382	+	Missense_Mutation	SNP	G	G	T	rs201615539		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:46678382G>T	ENST00000274793.7	-	8	873	c.677C>A	c.(676-678)gCa>gAa	p.A226E	PLA2G7_ENST00000541026.1_Missense_Mutation_p.A99E|PLA2G7_ENST00000537365.1_Missense_Mutation_p.A226E|PLA2G7_ENST00000538237.1_Missense_Mutation_p.A181E	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	226					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.A226E(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			ACATTCTTTTGCTCTTTGCCG	0.323																																						uc010jzf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(676-678)GCA>GAA		phospholipase A2, group VII							93.0	93.0	93.0					6																	46678382		2203	4299	6502	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46678382G>T	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.677C>A	6.37:g.46678382G>T	ENSP00000274793:p.Ala226Glu					PLA2G7_uc010jzg.1_Missense_Mutation_p.A226E|PLA2G7_uc011dwd.1_Missense_Mutation_p.A181E|PLA2G7_uc011dwe.1_Missense_Mutation_p.A99E	p.A226E	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Lung(136;0.192)		8	946	-			226					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.677C>A	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504127	0.85176	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237;ENST00000541026	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	6.03	5.14	0.70334	.	0.049183	0.85682	D	0.000000	T	0.61160	0.2325	M	0.83692	2.655	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.999;0.999	D;D;D;D	0.75484	0.986;0.964;0.985;0.985	T	0.63070	-0.6719	10	0.20046	T	0.44	-11.6957	16.8226	0.85922	0.0:0.1289:0.8711:0.0	.	99;181;226;226	B4DLM5;F5GYY6;A8K2W6;Q13093	.;.;.;PAFA_HUMAN	E	226;226;181;99	ENSP00000274793:A226E;ENSP00000445666:A226E;ENSP00000441416:A181E;ENSP00000444164:A99E	ENSP00000274793:A226E	A	-	2	0	PLA2G7	46786341	1.000000	0.71417	0.988000	0.46212	0.887000	0.51463	3.397000	0.52572	1.518000	0.48934	0.655000	0.94253	GCA		PASS	0.323	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			61	160	61	160	---	---	---	---
MEP1A	4224	broad.mit.edu	37	6	46777263	46777263	+	Silent	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:46777263A>G	ENST00000230588.4	+	6	378	c.369A>G	c.(367-369)caA>caG	p.Q123Q		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	123	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q123Q(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCATATTTCAACAGTTTGATG	0.408																																						uc010jzh.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(367-369)CAA>CAG		meprin A alpha precursor							139.0	139.0	139.0					6																	46777263		2203	4300	6503	SO:0001819	synonymous_variant	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46777263A>G		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.369A>G	6.37:g.46777263A>G						MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Silent_p.Q151Q|MEP1A_uc011dwi.1_Silent_p.Q23Q	p.Q123Q	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		6	411	+			123			Extracellular (Potential).|Metalloprotease.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP	ENST00000230588.4	37	c.369A>G	CCDS4918.1																																																																																				PASS	0.408	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		108	224	108	224	---	---	---	---
MEP1A	4224	broad.mit.edu	37	6	46800903	46800903	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:46800903C>T	ENST00000230588.4	+	11	1246	c.1237C>T	c.(1237-1239)Cag>Tag	p.Q413*		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	413	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q413*(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGGCGACCCTCAGAACTCAAC	0.507																																						uc010jzh.1																			1	Substitution - Nonsense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1237-1239)CAG>TAG		meprin A alpha precursor							64.0	67.0	66.0					6																	46800903		2203	4300	6503	SO:0001587	stop_gained	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46800903C>T		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1237C>T	6.37:g.46800903C>T	ENSP00000230588:p.Gln413*					MEP1A_uc011dwg.1_Nonsense_Mutation_p.Q135*|MEP1A_uc011dwh.1_Nonsense_Mutation_p.Q441*|MEP1A_uc011dwi.1_Nonsense_Mutation_p.Q313*	p.Q413*	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		11	1279	+			413			Extracellular (Potential).|MAM.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Nonsense_Mutation	SNP	ENST00000230588.4	37	c.1237C>T	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367199	0.82463	.	.	ENSG00000112818	ENST00000230588	.	.	.	5.57	3.69	0.42338	.	0.815818	0.11601	N	0.547732	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-4.87	9.5196	0.39126	0.2213:0.4401:0.3386:0.0	.	.	.	.	X	413	.	ENSP00000230588:Q413X	Q	+	1	0	MEP1A	46908862	0.000000	0.05858	1.000000	0.80357	0.614000	0.37383	0.295000	0.19065	1.311000	0.45024	0.650000	0.86243	CAG		PASS	0.507	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		76	137	76	137	---	---	---	---
OPN5	221391	broad.mit.edu	37	6	47779408	47779408	+	Splice_Site	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:47779408A>G	ENST00000371211.2	+	6	1026		c.e6-1		OPN5_ENST00000393699.2_Splice_Site|OPN5_ENST00000244799.4_Splice_Site|OPN5_ENST00000489301.2_Splice_Site	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5						phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.?(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TCCTATATCTAGGCTGCACAC	0.358																																					Melanoma(28;740 973 10870 42660 45347)	uc003ozc.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e6-2		opsin 5 isoform 1							118.0	104.0	109.0					6																	47779408		2203	4300	6503	SO:0001630	splice_region_variant	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47779408A>G	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.999-1A>G	6.37:g.47779408A>G						OPN5_uc003ozd.2_Splice_Site_p.R168_splice	p.R333_splice	NM_181744	NP_859528	Q6U736	OPN5_HUMAN			6	1004	+								A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Splice_Site	SNP	ENST00000371211.2	37	c.999_splice	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.211891	0.58452	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2977	0.54857	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OPN5	47887367	0.997000	0.39634	0.927000	0.36925	0.729000	0.41735	4.690000	0.61731	2.154000	0.67381	0.533000	0.62120	.		PASS	0.358	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744	Intron	43	84	43	84	---	---	---	---
PTCHD4	442213	broad.mit.edu	37	6	47847149	47847149	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:47847149G>C	ENST00000339488.4	-	3	1464	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	477						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.F477L(1)									CCATGAAGGAGAAGGAGGCAT	0.418																																						uc011dwm.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1378-1380)TTC>TTG		hypothetical protein LOC442213							89.0	82.0	84.0					6																	47847149		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847149G>C		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1431C>G	6.37:g.47847149G>C	ENSP00000341914:p.Phe477Leu					C6orf138_uc011dwn.1_Missense_Mutation_p.F224L	p.F460L	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			3	1465	-			477			Helical; (Potential).		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.1380C>G	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543038	0.27563	.	.	ENSG00000244694	ENST00000339488	D	0.83755	-1.76	5.48	2.29	0.28610	.	0.000000	0.85682	D	0.000000	T	0.69233	0.3088	M	0.63843	1.955	0.80722	D	1	B	0.20052	0.041	B	0.34824	0.19	T	0.63014	-0.6731	10	0.11485	T	0.65	.	11.6759	0.51430	0.2269:0.0:0.7731:0.0	.	477	Q6ZW05	CF138_HUMAN	L	477	ENSP00000341914:F477L	ENSP00000341914:F477L	F	-	3	2	C6orf138	47955108	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.810000	0.38932	0.704000	0.31869	0.650000	0.86243	TTC		PASS	0.418	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		3	74	3	74	---	---	---	---
PGK2	5232	broad.mit.edu	37	6	49754844	49754844	+	Silent	SNP	G	G	A	rs374682715		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:49754844G>A	ENST00000304801.3	-	1	209	c.57C>T	c.(55-57)gtC>gtT	p.V19V		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	19					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.V19V(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CTCTCATGATGACTCGCTTCC	0.418																																						uc003ozu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(55-57)GTC>GTT		phosphoglycerate kinase 2							178.0	163.0	168.0					6																	49754844		2203	4300	6503	SO:0001819	synonymous_variant	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754844G>A	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.57C>T	6.37:g.49754844G>A							p.V19V	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	164	-	Lung NSC(77;0.0402)		19					B2R6Y8|Q9H107	Silent	SNP	ENST00000304801.3	37	c.57C>T	CCDS4930.1																																																																																				PASS	0.418	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			8	228	8	228	---	---	---	---
DEFB110	245913	broad.mit.edu	37	6	49986831	49986831	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:49986831C>G	ENST00000371148.2	-	2	108	c.63G>C	c.(61-63)aaG>aaC	p.K21N	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	21					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.K21N(1)		endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					CAGGATATTTCTTTTTGGCTG	0.353																																						uc003pac.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(61-63)AAG>AAC		beta-defensin 110 isoform a							134.0	129.0	131.0					6																	49986831		2203	4300	6503	SO:0001583	missense	245913				defense response to bacterium	extracellular region		g.chr6:49986831C>G	DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"""Defensins, beta"""	18091	protein-coding gene	gene with protein product			"""defensin, beta 110"""			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000371148.2:c.63G>C	6.37:g.49986831C>G	ENSP00000360190:p.Lys21Asn					DEFB110_uc011dwr.1_Intron	p.K21N	NM_001037497	NP_001032586	Q30KQ9	DB110_HUMAN			2	109	-	Lung NSC(77;0.042)		21					Q30KR0	Missense_Mutation	SNP	ENST00000371148.2	37	c.63G>C	CCDS34475.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506975	0.26949	.	.	ENSG00000203970	ENST00000371148	.	.	.	5.03	2.18	0.27775	.	0.524332	0.17673	N	0.165918	T	0.09423	0.0232	.	.	.	0.09310	N	1	P	0.37781	0.608	B	0.37943	0.261	T	0.08889	-1.0700	7	.	.	.	-3.285	3.878	0.09066	0.191:0.6127:0.0:0.1963	.	21	Q30KQ9	DB110_HUMAN	N	21	.	.	K	-	3	2	DEFB110	50094790	0.004000	0.15560	0.415000	0.26534	0.859000	0.49053	0.652000	0.24888	1.360000	0.45960	0.655000	0.94253	AAG		PASS	0.353	DEFB110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359664.1	NM_001037728		24	237	24	237	---	---	---	---
TFAP2B	7021	broad.mit.edu	37	6	50791467	50791468	+	Missense_Mutation	DNP	GG	GG	CA	rs377640032		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:50791467_50791468GG>CA	ENST00000393655.3	+	2	598_599	c.429_430GG>CA	c.(427-432)tcGGtc>tcCAtc	p.V144I	TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000263046.4_Missense_Mutation_p.V153I	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	144					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.V144I(2)|p.S143S(1)|p.V144L(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ACTACCACTCGGTCCGCCGGCC	0.713																																					Pancreas(116;1373 2332 5475 10752)	uc003pag.2																			4	Substitution - Missense(3)|Substitution - coding silent(1)		lung(3)|large_intestine(1)		0						c.(427-429)TCG>TCC|c.(430-432)GTC>ATC		transcription factor AP-2 beta																																				SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50791467G>C|g.chr6:50791468G>A	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	Exception_encountered	6.37:g.50791467_50791468delinsCA	ENSP00000377265:p.Val144Ile						p.S143S|p.V144I	NM_003221	NP_003212	Q92481	AP2B_HUMAN			2	595|596	+	Lung NSC(77;0.156)		143|144					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent|Missense_Mutation	SNP	ENST00000393655.3	37	c.429G>C|c.430G>A	CCDS4934.2																																																																																				PASS	0.713	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		3	8|6	3	6	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51917955	51917955	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:51917955G>C	ENST00000371117.3	-	21	2334	c.2059C>G	c.(2059-2061)Cag>Gag	p.Q687E	PKHD1_ENST00000340994.4_Missense_Mutation_p.Q687E	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	687					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.Q687E(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGTTGATCTGATGAACCAGC	0.512																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(2059-2061)CAG>GAG		fibrocystin isoform 1							75.0	76.0	76.0					6																	51917955		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51917955G>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2059C>G	6.37:g.51917955G>C	ENSP00000360158:p.Gln687Glu					PKHD1_uc003pai.2_Missense_Mutation_p.Q687E	p.Q687E	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			21	2335	-	Lung NSC(77;0.0605)		687			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.2059C>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.349621	0.24426	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86562	-1.93;-2.14	5.63	3.81	0.43845	.	1.365360	0.04455	N	0.373336	T	0.69886	0.3161	L	0.29908	0.895	0.09310	N	0.999996	B;B	0.19706	0.029;0.038	B;B	0.15484	0.013;0.006	T	0.61327	-0.7085	10	0.51188	T	0.08	.	10.7524	0.46217	0.0:0.2685:0.5924:0.1392	.	687;687	P08F94-2;P08F94	.;PKHD1_HUMAN	E	687	ENSP00000360158:Q687E;ENSP00000341097:Q687E	ENSP00000341097:Q687E	Q	-	1	0	PKHD1	52025914	0.692000	0.27719	0.080000	0.20451	0.096000	0.18686	1.435000	0.34969	0.816000	0.34421	0.655000	0.94253	CAG		PASS	0.512	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		39	79	39	79	---	---	---	---
GSTA1	2938	broad.mit.edu	37	6	52659012	52659012	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:52659012G>A	ENST00000334575.5	-	5	480	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	109	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.L109L(1)		large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	CATACGGGCAGAAGGAGGATC	0.388																																						uc003paz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(325-327)CTG>TTG		glutathione S-transferase alpha 1	Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)						176.0	167.0	170.0					6																	52659012		2203	4300	6503	SO:0001819	synonymous_variant	2938				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52659012G>A		CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4626	protein-coding gene	gene with protein product		138359	"""glutathione S-transferase A1"""			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.325C>T	6.37:g.52659012G>A							p.L109L	NM_145740	NP_665683	P08263	GSTA1_HUMAN			5	437	-	Lung NSC(77;0.118)		109			GST C-terminal.		Q14750|Q5GHF8|Q5SZC1	Silent	SNP	ENST00000334575.5	37	c.325C>T	CCDS4945.1																																																																																				PASS	0.388	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1			73	338	73	338	---	---	---	---
COL21A1	81578	broad.mit.edu	37	6	56044530	56044530	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:56044530C>G	ENST00000244728.5	-	3	883	c.486G>C	c.(484-486)aaG>aaC	p.K162N	COL21A1_ENST00000535941.1_Missense_Mutation_p.K162N|COL21A1_ENST00000370819.1_Missense_Mutation_p.K162N	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	162	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.K162N(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATAATGTTATCTTACTATCTC	0.423																																						uc003pcs.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(484-486)AAG>AAC		collagen, type XXI, alpha 1 precursor							92.0	88.0	89.0					6																	56044530		1977	4157	6134	SO:0001583	missense	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56044530C>G	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.486G>C	6.37:g.56044530C>G	ENSP00000244728:p.Lys162Asn					COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.K162N|COL21A1_uc003pcu.1_Missense_Mutation_p.K162N	p.K162N	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		3	718	-	Lung NSC(77;0.0483)		162			VWFA.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.486G>C	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	9.595	1.127238	0.20959	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	D;D;D	0.97352	-4.35;-4.35;-4.35	4.75	1.13	0.20643	von Willebrand factor, type A (3);	0.506389	0.17223	N	0.182266	T	0.81283	0.4790	N	0.02721	-0.515	0.50171	D	0.999858	P;B	0.37276	0.589;0.175	B;B	0.33392	0.163;0.129	T	0.76285	-0.3015	10	0.33940	T	0.23	.	8.2339	0.31614	0.0:0.4225:0.0:0.5775	.	162;162	Q96P44-3;Q96P44	.;COLA1_HUMAN	N	162	ENSP00000244728:K162N;ENSP00000359855:K162N;ENSP00000444384:K162N	ENSP00000244728:K162N	K	-	3	2	COL21A1	56152489	0.717000	0.27966	0.873000	0.34254	0.985000	0.73830	0.065000	0.14466	0.004000	0.14682	0.650000	0.86243	AAG		PASS	0.423	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			39	64	39	64	---	---	---	---
DST	667	broad.mit.edu	37	6	56346973	56346973	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:56346973C>G	ENST00000361203.3	-	85	20453	c.20446G>C	c.(20446-20448)Gag>Cag	p.E6816Q	DST_ENST00000370754.5_Missense_Mutation_p.E7105Q|DST_ENST00000446842.2_Missense_Mutation_p.E6601Q|DST_ENST00000421834.2_Missense_Mutation_p.E4839Q|DST_ENST00000370769.4_Missense_Mutation_p.E6927Q|DST_ENST00000244364.6_Missense_Mutation_p.E4513Q|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.E4730Q			Q03001	DYST_HUMAN	dystonin	6817					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.E6927Q(1)|p.E4513Q(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGGAATTCCTCTGCCTAAGAG	0.483																																						uc003pdf.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(15049-15051)GAG>CAG		dystonin isoform 2							39.0	40.0	40.0					6																	56346973		1964	4155	6119	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56346973C>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20446G>C	6.37:g.56346973C>G	ENSP00000354508:p.Glu6816Gln					DST_uc003pcz.3_Missense_Mutation_p.E4839Q|DST_uc011dxj.1_Missense_Mutation_p.E4868Q|DST_uc011dxk.1_Missense_Mutation_p.E4879Q|DST_uc003pcy.3_Missense_Mutation_p.E4513Q	p.E5017Q	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		84	15077	-	Lung NSC(77;0.103)		6925			Spectrin 20.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.15049G>C		.	.	.	.	.	.	.	.	.	.	C	21.0	4.081713	0.76528	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.86	5.86	0.93980	.	0.000000	0.56097	D	0.000038	T	0.56906	0.2017	M	0.71296	2.17	0.30826	N	0.737195	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.996	D;D;D;D;D	0.97110	0.998;1.0;0.999;0.999;0.966	T	0.39542	-0.9609	9	0.18276	T	0.48	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	4839;6927;7105;6925;4513	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	Q	4513;7105;6927;4839;6601;4730;6816	ENSP00000244364:E4513Q;ENSP00000359790:E7105Q;ENSP00000359805:E6927Q;ENSP00000400883:E4839Q;ENSP00000393645:E6601Q;ENSP00000359824:E4730Q;ENSP00000354508:E6816Q	ENSP00000244364:E4513Q	E	-	1	0	DST	56454932	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAG		PASS	0.483	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		13	53	13	53	---	---	---	---
DST	667	broad.mit.edu	37	6	56497772	56497772	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:56497772C>T	ENST00000361203.3	-	24	3059	c.3052G>A	c.(3052-3054)Gat>Aat	p.D1018N	DST_ENST00000370754.5_Missense_Mutation_p.D1196N|DST_ENST00000446842.2_Missense_Mutation_p.D692N|DST_ENST00000370765.6_Missense_Mutation_p.D692N|DST_ENST00000421834.2_Missense_Mutation_p.D1018N|DST_ENST00000370769.4_Missense_Mutation_p.D1018N|DST_ENST00000244364.6_Missense_Mutation_p.D692N|DST_ENST00000312431.6_Missense_Mutation_p.D1018N|DST_ENST00000518935.1_Missense_Mutation_p.D692N|DST_ENST00000370788.2_Missense_Mutation_p.D1018N			Q03001	DYST_HUMAN	dystonin	1018					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.D692N(3)|p.D1018N(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCAGAAAATCTTCAAAACGA	0.358																																						uc003pdf.2																			4	Substitution - Missense(4)		lung(4)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(3586-3588)GAT>AAT		dystonin isoform 2							110.0	107.0	108.0					6																	56497772		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56497772C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3052G>A	6.37:g.56497772C>T	ENSP00000354508:p.Asp1018Asn					DST_uc003pcz.3_Missense_Mutation_p.D1018N|DST_uc011dxj.1_Missense_Mutation_p.D1047N|DST_uc011dxk.1_Missense_Mutation_p.D1058N|DST_uc003pcy.3_Missense_Mutation_p.D692N|DST_uc003pdb.2_Missense_Mutation_p.D692N|DST_uc003pdc.3_Missense_Mutation_p.D692N|DST_uc003pdd.3_Missense_Mutation_p.D692N	p.D1196N	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		27	3614	-	Lung NSC(77;0.103)		1018					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.3586G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.552709	0.96501	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.73	5.73	0.89815	.	0.000000	0.56097	D	0.000028	T	0.56426	0.1984	M	0.77616	2.38	0.32169	N	0.581871	P;D;P;P;D;D;P;P	0.76494	0.877;0.997;0.877;0.864;0.995;0.999;0.877;0.93	P;D;P;P;D;D;P;P	0.77004	0.494;0.989;0.494;0.597;0.946;0.986;0.494;0.572	T	0.48127	-0.9062	9	0.33940	T	0.23	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	1018;1018;1196;692;692;692;1018;692	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	N	692;1196;1018;1018;692;1018;1018;1018;692;1058;692;692	ENSP00000244364:D692N;ENSP00000359790:D1196N;ENSP00000359805:D1018N;ENSP00000400883:D1018N;ENSP00000393645:D692N;ENSP00000307959:D1018N;ENSP00000359824:D1018N;ENSP00000354508:D1018N;ENSP00000404924:D692N;ENSP00000431030:D1058N;ENSP00000359801:D692N;ENSP00000431003:D692N	ENSP00000244364:D692N	D	-	1	0	DST	56605731	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.427000	0.80284	2.861000	0.98227	0.655000	0.94253	GAT		PASS	0.358	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		25	151	25	151	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64401664	64401664	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:64401664C>T	ENST00000262043.3	+	5	2567	c.2227C>T	c.(2227-2229)Cat>Tat	p.H743Y	PHF3_ENST00000393387.1_Missense_Mutation_p.H743Y			Q92576	PHF3_HUMAN	PHD finger protein 3	743					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.H743Y(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGACTGGTTTCATGGTGATTG	0.373																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(2227-2229)CAT>TAT		PHD finger protein 3							171.0	184.0	180.0					6																	64401664		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64401664C>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2227C>T	6.37:g.64401664C>T	ENSP00000262043:p.His743Tyr					PHF3_uc010kaf.1_Missense_Mutation_p.H743Y|PHF3_uc003pem.2_Missense_Mutation_p.H696Y|PHF3_uc010kag.1_Missense_Mutation_p.H655Y|PHF3_uc010kah.1_Missense_Mutation_p.H557Y|PHF3_uc003pen.2_Missense_Mutation_p.H655Y|PHF3_uc011dxs.1_Missense_Mutation_p.H12Y	p.H743Y	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	2253	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		743			PHD-type.		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.2227C>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692225	0.68271	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000515594;ENST00000262043;ENST00000494284;ENST00000393387	D;D;D;D;D;D	0.99005	-5.32;-5.32;-5.32;-5.32;-5.32;-5.32	5.11	5.11	0.69529	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.40908	D	0.000989	D	0.99612	0.9859	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97801	1.0244	10	0.87932	D	0	-16.0715	18.8994	0.92435	0.0:1.0:0.0:0.0	.	743	Q92576	PHF3_HUMAN	Y	557;655;12;743;696;743	ENSP00000424694:H557Y;ENSP00000425227:H655Y;ENSP00000425338:H12Y;ENSP00000262043:H743Y;ENSP00000424078:H696Y;ENSP00000377048:H743Y	ENSP00000262043:H743Y	H	+	1	0	PHF3	64459623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.536000	0.85505	0.585000	0.79938	CAT		PASS	0.373	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			48	495	48	495	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64401686	64401686	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:64401686G>T	ENST00000262043.3	+	5	2589	c.2249G>T	c.(2248-2250)aGt>aTt	p.S750I	PHF3_ENST00000393387.1_Missense_Mutation_p.S750I			Q92576	PHF3_HUMAN	PHD finger protein 3	750					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S750I(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTTGGGTTAAGTCTTTCTCAA	0.388																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(2248-2250)AGT>ATT		PHD finger protein 3							175.0	182.0	179.0					6																	64401686		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64401686G>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2249G>T	6.37:g.64401686G>T	ENSP00000262043:p.Ser750Ile					PHF3_uc010kaf.1_Missense_Mutation_p.S750I|PHF3_uc003pem.2_Missense_Mutation_p.S703I|PHF3_uc010kag.1_Missense_Mutation_p.S662I|PHF3_uc010kah.1_Missense_Mutation_p.S564I|PHF3_uc003pen.2_Missense_Mutation_p.S662I|PHF3_uc011dxs.1_Missense_Mutation_p.S19I	p.S750I	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	2275	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		750			PHD-type.		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.2249G>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887707	0.52014	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000515594;ENST00000262043;ENST00000494284;ENST00000393387	D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.11	5.11	0.69529	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.46442	D	0.000288	D	0.90331	0.6975	M	0.63208	1.945	0.43830	D	0.996404	D	0.76494	0.999	D	0.77557	0.99	D	0.91088	0.4904	10	0.87932	D	0	-18.5369	18.8994	0.92435	0.0:0.0:1.0:0.0	.	750	Q92576	PHF3_HUMAN	I	564;662;19;750;703;750	ENSP00000424694:S564I;ENSP00000425227:S662I;ENSP00000425338:S19I;ENSP00000262043:S750I;ENSP00000424078:S703I;ENSP00000377048:S750I	ENSP00000262043:S750I	S	+	2	0	PHF3	64459645	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.248000	0.72418	2.536000	0.85505	0.585000	0.79938	AGT		PASS	0.388	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			62	449	62	449	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64408361	64408361	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:64408361G>T	ENST00000262043.3	+	8	3188	c.2848G>T	c.(2848-2850)Gta>Tta	p.V950L	PHF3_ENST00000393387.1_Missense_Mutation_p.V950L			Q92576	PHF3_HUMAN	PHD finger protein 3	950	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.V950L(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAATTTGAAGGTACCAGAGGA	0.274																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(2848-2850)GTA>TTA		PHD finger protein 3							41.0	49.0	46.0					6																	64408361		2180	4293	6473	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64408361G>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2848G>T	6.37:g.64408361G>T	ENSP00000262043:p.Val950Leu					PHF3_uc010kah.1_Missense_Mutation_p.V764L|PHF3_uc003pen.2_Missense_Mutation_p.V862L|PHF3_uc011dxs.1_Missense_Mutation_p.V219L	p.V950L	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		7	2874	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		950			TFIIS central.		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.2848G>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	g	11.52	1.663330	0.29515	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.42900	2.24;0.96;2.29;2.29	5.49	-1.3	0.09259	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.722822	0.11304	N	0.577875	T	0.08846	0.0219	N	0.11201	0.11	0.22754	N	0.998775	B	0.11235	0.004	B	0.17433	0.018	T	0.38520	-0.9657	10	0.35671	T	0.21	-3.1775	10.6061	0.45394	0.7598:0.0:0.2402:0.0	.	950	Q92576	PHF3_HUMAN	L	764;219;950;950	ENSP00000424694:V764L;ENSP00000425338:V219L;ENSP00000262043:V950L;ENSP00000377048:V950L	ENSP00000262043:V950L	V	+	1	0	PHF3	64466320	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	1.786000	0.38694	-0.104000	0.12154	-0.336000	0.08194	GTA		PASS	0.274	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			14	172	14	172	---	---	---	---
BAI3	577	broad.mit.edu	37	6	70071177	70071177	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:70071177G>T	ENST00000370598.1	+	29	4833	c.4012G>T	c.(4012-4014)Gaa>Taa	p.E1338*	BAI3_ENST00000546190.1_Nonsense_Mutation_p.E302*|BAI3_ENST00000238918.8_Nonsense_Mutation_p.E544*	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1338					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.E1338*(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)				CTTGCCGCATGAAAGGCTATT	0.408																																						uc003pev.3																			1	Substitution - Nonsense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(4012-4014)GAA>TAA		brain-specific angiogenesis inhibitor 3							78.0	74.0	76.0					6																	70071177		2203	4299	6502	SO:0001587	stop_gained	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70071177G>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.4012G>T	6.37:g.70071177G>T	ENSP00000359630:p.Glu1338*					BAI3_uc010kak.2_Nonsense_Mutation_p.E1338*|BAI3_uc011dxx.1_Nonsense_Mutation_p.E544*	p.E1338*	NM_001704	NP_001695	O60242	BAI3_HUMAN			29	4460	+		all_lung(197;0.212)	1338			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Nonsense_Mutation	SNP	ENST00000370598.1	37	c.4012G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	37	6.482524	0.97603	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	20.1141	0.97919	0.0:0.0:1.0:0.0	.	.	.	.	X	1338;544;302	.	ENSP00000238918:E544X	E	+	1	0	BAI3	70127898	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.766000	0.95052	0.650000	0.86243	GAA		PASS	0.408	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			21	119	21	119	---	---	---	---
KHDC1	80759	broad.mit.edu	37	6	73951780	73951780	+	Missense_Mutation	SNP	C	C	G	rs199949364		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:73951780C>G	ENST00000370384.3	-	4	1012	c.512G>C	c.(511-513)cGa>cCa	p.R171P	RP11-257K9.8_ENST00000423730.3_Missense_Mutation_p.R98P|KHDC1_ENST00000257765.5_Missense_Mutation_p.R98P	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	171						integral component of membrane (GO:0016021)	RNA binding (GO:0003723)	p.R98L(2)|p.R98P(2)		large_intestine(1)|lung(4)|skin(1)	6						ATACCTACCTCGAGCATGATG	0.517																																						uc003pgo.2																			4	Substitution - Missense(4)		lung(4)	skin(1)	1						c.(511-513)CGA>CCA		KH homology domain containing 1							57.0	57.0	57.0					6																	73951780		2006	4179	6185	SO:0001583	missense	80759					integral to membrane	RNA binding	g.chr6:73951780C>G		CCDS43480.1, CCDS59027.1	6q13	2014-05-15	2007-11-13	2007-11-13	ENSG00000135314	ENSG00000135314			21366	protein-coding gene	gene with protein product		611688	"""chromosome 6 open reading frame 148"""	C6orf148		17913455	Standard	NM_030568		Approved	MGC10818, bA257K9.4, NDG1	uc003pgn.4	Q4VXA5	OTTHUMG00000015030	ENST00000370384.3:c.512G>C	6.37:g.73951780C>G	ENSP00000359411:p.Arg171Pro					KHDC1_uc011dyl.1_RNA|KHDC1_uc003pgn.3_Missense_Mutation_p.R98P	p.R171P	NM_030568	NP_085045	Q4VXA5	KHDC1_HUMAN			4	1013	-			171					Q5JSQ7|Q8WTV2|Q96NQ5	Missense_Mutation	SNP	ENST00000370384.3	37	c.512G>C	CCDS59027.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072397	0.36566	.	.	ENSG00000256980;ENSG00000135314;ENSG00000135314;ENSG00000135314	ENST00000370385;ENST00000257765;ENST00000370384;ENST00000433730	T	0.37915	1.17	2.04	-2.91	0.05631	.	.	.	.	.	T	0.20901	0.0503	L	0.43152	1.355	0.09310	N	1	D	0.56287	0.975	P	0.54706	0.759	T	0.10019	-1.0648	9	0.62326	D	0.03	.	6.2668	0.20932	0.0:0.49:0.0:0.51	.	171	Q4VXA5	KHDC1_HUMAN	P	98;98;171;98	ENSP00000359411:R171P	ENSP00000257765:R98P	R	-	2	0	RP11-257K9.7;KHDC1	74008501	0.209000	0.23505	0.012000	0.15200	0.016000	0.09150	-0.558000	0.05978	-0.753000	0.04721	-0.291000	0.09656	CGA		PASS	0.517	KHDC1-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000148103.2	NM_030568		4	62	4	62	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75814930	75814930	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:75814930C>A	ENST00000322507.8	-	54	8566	c.8257G>T	c.(8257-8259)Ggc>Tgc	p.G2753C	COL12A1_ENST00000483888.2_Missense_Mutation_p.G2753C|COL12A1_ENST00000416123.2_Missense_Mutation_p.G2677C|COL12A1_ENST00000345356.6_Missense_Mutation_p.G1589C	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2753	Collagen-like 1.|Triple-helical region (COL2) with 1 imperfection.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.G2753C(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACTGCAGGGCCTGGAGGTCCT	0.388																																						uc003phs.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(8257-8259)GGC>TGC		collagen, type XII, alpha 1 long isoform							58.0	69.0	65.0					6																	75814930		1871	4115	5986	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75814930C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8257G>T	6.37:g.75814930C>A	ENSP00000325146:p.Gly2753Cys					COL12A1_uc003pht.2_Missense_Mutation_p.G1589C	p.G2753C	NM_004370	NP_004361	Q99715	COCA1_HUMAN			54	8423	-			2753			Triple-helical region (COL2) with 1 imperfection.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.8257G>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641026	0.87859	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.99369	-5.78;-5.78;-5.78;-5.78;-5.78	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.99169	4.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96877	0.9643	10	0.87932	D	0	.	19.6611	0.95871	0.0:1.0:0.0:0.0	.	1589;2753	Q99715-2;Q99715	.;COCA1_HUMAN	C	2753;391;2677;1589;2677;2753	ENSP00000325146:G2753C;ENSP00000399812:G391C;ENSP00000305147:G1589C;ENSP00000412864:G2677C;ENSP00000421216:G2753C	ENSP00000325146:G2753C	G	-	1	0	COL12A1	75871650	1.000000	0.71417	0.982000	0.44146	0.951000	0.60555	7.152000	0.77419	2.643000	0.89663	0.655000	0.94253	GGC		PASS	0.388	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		15	87	15	87	---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76715065	76715065	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:76715065C>T	ENST00000369950.3	-	10	1263	c.1074G>A	c.(1072-1074)ctG>ctA	p.L358L	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.L358L(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CTTTGCTGATCAGCCTTTTGA	0.403																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1072-1074)CTG>CTA		interphotoreceptor matrix proteoglycan 1							204.0	175.0	185.0					6																	76715065		2203	4300	6503	SO:0001819	synonymous_variant	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76715065C>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1074G>A	6.37:g.76715065C>T							p.L358L	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			10	1204	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	358						Silent	SNP	ENST00000369950.3	37	c.1074G>A	CCDS4985.1																																																																																				PASS	0.403	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		42	269	42	269	---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76715170	76715170	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:76715170C>T	ENST00000369950.3	-	10	1158	c.969G>A	c.(967-969)ctG>ctA	p.L323L	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.L323L(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AATCAAAAGACAGGAGGTCAC	0.448																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(967-969)CTG>CTA		interphotoreceptor matrix proteoglycan 1							147.0	134.0	139.0					6																	76715170		2203	4300	6503	SO:0001819	synonymous_variant	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76715170C>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.969G>A	6.37:g.76715170C>T							p.L323L	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			10	1099	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	323			SEA 1.			Silent	SNP	ENST00000369950.3	37	c.969G>A	CCDS4985.1																																																																																				PASS	0.448	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		11	212	11	212	---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83847593	83847593	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:83847593G>C	ENST00000349129.2	+	21	4092	c.3832G>C	c.(3832-3834)Gaa>Caa	p.E1278Q	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.E1269Q|DOPEY1_ENST00000237163.5_Missense_Mutation_p.E1259Q	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1278					protein transport (GO:0015031)			p.E1278Q(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAAATTATCAGAAAAAGTTTC	0.363																																						uc003pjs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(3832-3834)GAA>CAA		dopey family member 1							42.0	43.0	43.0					6																	83847593		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83847593G>C	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3832G>C	6.37:g.83847593G>C	ENSP00000195654:p.Glu1278Gln					DOPEY1_uc011dyy.1_Missense_Mutation_p.E1269Q|DOPEY1_uc010kbl.1_Missense_Mutation_p.E1269Q|DOPEY1_uc003pjt.2_RNA	p.E1278Q	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	4092	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1278					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.3832G>C	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168972	0.38315	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.28895	1.59;1.59	6.07	6.07	0.98685	.	0.143074	0.64402	D	0.000007	T	0.16128	0.0388	L	0.27053	0.805	0.80722	D	1	P;P;P	0.34562	0.457;0.457;0.457	B;B;B	0.38985	0.287;0.193;0.193	T	0.05683	-1.0870	10	0.16420	T	0.52	.	19.6407	0.95757	0.0:0.0:1.0:0.0	.	1169;1269;1278	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	Q	1278;1259;1259	ENSP00000195654:E1278Q;ENSP00000237163:E1259Q	ENSP00000237163:E1259Q	E	+	1	0	DOPEY1	83904312	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.858000	0.92256	2.890000	0.99128	0.585000	0.79938	GAA		PASS	0.363	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		14	94	14	94	---	---	---	---
PRSS35	167681	broad.mit.edu	37	6	84233922	84233922	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:84233922C>G	ENST00000369700.3	+	2	939	c.762C>G	c.(760-762)gtC>gtG	p.V254V	PRSS35_ENST00000536636.1_Silent_p.V254V	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	254	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.V254V(2)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGACCCGGGTCAAGAATACCC	0.562																																						uc003pjz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(760-762)GTC>GTG		protease, serine, 35 precursor							50.0	56.0	54.0					6																	84233922		2203	4300	6503	SO:0001819	synonymous_variant	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84233922C>G	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.762C>G	6.37:g.84233922C>G						PRSS35_uc010kbm.2_Silent_p.V254V	p.V254V	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	2	925	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	254			Peptidase S1.		A8K7B3|Q9BQP6	Silent	SNP	ENST00000369700.3	37	c.762C>G	CCDS4999.1																																																																																				PASS	0.562	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		12	94	12	94	---	---	---	---
RARS2	57038	broad.mit.edu	37	6	88240595	88240595	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:88240595G>C	ENST00000369536.5	-	9	723	c.678C>G	c.(676-678)ttC>ttG	p.F226L		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	226					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.F226L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ATCGTTGGAAGAACTCCTGTG	0.383																																						uc003pme.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(676-678)TTC>TTG		arginyl-tRNA synthetase 2, mitochondrial							209.0	198.0	202.0					6																	88240595		2203	4300	6503	SO:0001583	missense	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88240595G>C	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.678C>G	6.37:g.88240595G>C	ENSP00000358549:p.Phe226Leu					RARS2_uc003pmb.2_Missense_Mutation_p.F51L|RARS2_uc003pmc.2_Missense_Mutation_p.F51L|RARS2_uc003pmd.2_5'UTR|RARS2_uc003pmf.2_RNA	p.F226L	NM_020320	NP_064716	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	9	738	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	226					B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	c.678C>G	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397939	0.42512	.	.	ENSG00000146282	ENST00000369536	T	0.62941	-0.01	6.17	5.3	0.74995	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	L	0.41236	1.265	0.54753	D	0.999985	B	0.25486	0.127	B	0.37091	0.241	T	0.44862	-0.9300	10	0.35671	T	0.21	.	9.312	0.37910	0.2141:0.0:0.7859:0.0	.	226	Q5T160	SYRM_HUMAN	L	226	ENSP00000358549:F226L	ENSP00000358549:F226L	F	-	3	2	RARS2	88297314	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	2.517000	0.45529	1.620000	0.50308	0.655000	0.94253	TTC		PASS	0.383	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		14	208	14	208	---	---	---	---
UBE2J1	51465	broad.mit.edu	37	6	90039657	90039657	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:90039657G>A	ENST00000435041.2	-	8	976	c.698C>T	c.(697-699)tCa>tTa	p.S233L		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	233					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.S233L(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		GGATGCTGCTGAGGAATTCTG	0.433																																						uc010kcb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(697-699)TCA>TTA		ubiquitin-conjugating enzyme E2, J1							98.0	102.0	101.0					6																	90039657		2203	4300	6503	SO:0001583	missense	51465					endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr6:90039657G>A	AJ245898	CCDS5021.1	6q15	2014-01-28	2012-06-08		ENSG00000198833	ENSG00000198833		"""Ubiquitin-conjugating enzymes E2"""	17598	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)"""			10708578	Standard	NM_016021		Approved	HSPC153, CGI-76, NCUBE1, UBC6	uc003pnc.3	Q9Y385	OTTHUMG00000016337	ENST00000435041.2:c.698C>T	6.37:g.90039657G>A	ENSP00000451261:p.Ser233Leu					UBE2J1_uc003pnc.2_Missense_Mutation_p.S233L	p.S233L	NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0139)	9	871	-		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)	233			Cytoplasmic (Potential).		A8K3F9|Q53F25|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10	Missense_Mutation	SNP	ENST00000435041.2	37	c.698C>T	CCDS5021.1	.	.	.	.	.	.	.	.	.	.	G	6.411	0.443962	0.12164	.	.	ENSG00000198833	ENST00000435041;ENST00000536477	T	0.65732	-0.17	5.87	4.1	0.47936	.	0.601453	0.17565	N	0.169690	T	0.30759	0.0775	L	0.40543	1.245	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.19976	-1.0289	10	0.40728	T	0.16	-17.5955	8.6841	0.34227	0.1424:0.1333:0.7243:0.0	.	233	Q9Y385	UB2J1_HUMAN	L	233;218	ENSP00000451261:S233L	ENSP00000354684:S233L	S	-	2	0	UBE2J1	90096376	0.023000	0.18921	0.027000	0.17364	0.021000	0.10359	1.834000	0.39171	0.942000	0.37525	0.655000	0.94253	TCA		PASS	0.433	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043742.2	NM_016021		8	157	8	157	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90380769	90380769	+	Missense_Mutation	SNP	G	G	A	rs139168257		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:90380769G>A	ENST00000369393.3	-	83	13940	c.13825C>T	c.(13825-13827)Cgc>Tgc	p.R4609C	MDN1_ENST00000428876.1_Missense_Mutation_p.R4609C|MDN1_ENST00000468568.1_5'UTR|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4609					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.R4609C(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGCACCAGGCGCACCAGCAAG	0.517																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(13825-13827)CGC>TGC		MDN1, midasin homolog		G	CYS/ARG	0,4406		0,0,2203	63.0	58.0	60.0		13825	4.2	1.0	6	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	missense	MDN1	NM_014611.1	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	4609/5597	90380769	1,13005	2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90380769G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13825C>T	6.37:g.90380769G>A	ENSP00000358400:p.Arg4609Cys						p.R4609C	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	83	13941	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4609					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.13825C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859163	0.51376	0.0	1.16E-4	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03663	3.85;3.85	5.92	4.16	0.48862	.	0.196709	0.45606	N	0.000347	T	0.02494	0.0076	M	0.67953	2.075	0.58432	D	0.999999	B	0.20164	0.042	B	0.14023	0.01	T	0.23190	-1.0195	10	0.52906	T	0.07	.	12.6847	0.56942	0.1329:0.0:0.8671:0.0	.	4609	Q9NU22	MDN1_HUMAN	C	4609	ENSP00000358400:R4609C;ENSP00000413970:R4609C	ENSP00000358400:R4609C	R	-	1	0	MDN1	90437490	1.000000	0.71417	1.000000	0.80357	0.352000	0.29268	4.770000	0.62309	0.854000	0.35336	-0.126000	0.14955	CGC		PASS	0.517	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			4	76	4	76	---	---	---	---
GPR63	81491	broad.mit.edu	37	6	97246936	97246936	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:97246936G>A	ENST00000229955.3	-	2	1017	c.672C>T	c.(670-672)tcC>tcT	p.S224S	GPR63_ENST00000417980.1_Silent_p.S224S	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.S224S(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GGGGAGCTCGGGAAGGTATCT	0.458																																						uc010kcl.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(670-672)TCC>TCT		G protein-coupled receptor 63							74.0	78.0	76.0					6																	97246936		2203	4300	6503	SO:0001819	synonymous_variant	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246936G>A	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.672C>T	6.37:g.97246936G>A						GPR63_uc003pou.2_Silent_p.S224S	p.S224S	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	3	1150	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	224			Extracellular (Potential).		Q9UJH3	Silent	SNP	ENST00000229955.3	37	c.672C>T	CCDS5036.1																																																																																				PASS	0.458	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			29	183	29	183	---	---	---	---
PRDM13	59336	broad.mit.edu	37	6	100062341	100062341	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:100062341C>G	ENST00000369215.4	+	4	2135	c.1830C>G	c.(1828-1830)ttC>ttG	p.F610L		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	610					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.F610L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		TGCGGCCCTTCGGCGACCCCA	0.617																																						uc003pqg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1828-1830)TTC>TTG		PR domain containing 13							37.0	43.0	41.0					6																	100062341		2082	4219	6301	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100062341C>G	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1830C>G	6.37:g.100062341C>G	ENSP00000358217:p.Phe610Leu						p.F610L	NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	4	2091	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	610			C2H2-type 3.		Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.1830C>G	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638232	0.67130	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.41065	1.01;1.01	4.96	-1.76	0.08006	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42964	D	0.000621	T	0.49779	0.1577	M	0.83603	2.65	0.45330	D	0.998324	D	0.71674	0.998	D	0.67548	0.952	T	0.60551	-0.7241	10	0.87932	D	0	-13.371	11.2316	0.48916	0.0:0.4932:0.0:0.5068	.	610	Q9H4Q3	PRD13_HUMAN	L	610;620	ENSP00000358217:F610L;ENSP00000358216:F620L	ENSP00000358216:F620L	F	+	3	2	PRDM13	100169062	0.831000	0.29352	0.990000	0.47175	0.992000	0.81027	-0.048000	0.11944	-0.330000	0.08514	-0.258000	0.10820	TTC		PASS	0.617	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			12	49	12	49	---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101296127	101296127	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:101296127G>A	ENST00000369162.2	-	4	1042	c.698C>T	c.(697-699)tCa>tTa	p.S233L	ASCC3_ENST00000522650.1_Missense_Mutation_p.S233L	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	233					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.S233L(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTTCAAAGTTGAATTTAGGTA	0.393																																						uc003pqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(697-699)TCA>TTA		activating signal cointegrator 1 complex subunit							74.0	76.0	76.0					6																	101296127		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101296127G>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.698C>T	6.37:g.101296127G>A	ENSP00000358159:p.Ser233Leu					ASCC3_uc011eai.1_Missense_Mutation_p.S135L|ASCC3_uc003pql.2_Missense_Mutation_p.S233L|ASCC3_uc010kcv.2_Missense_Mutation_p.S233L	p.S233L	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	4	1027	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	233					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.698C>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035647	0.35893	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.57752	0.45;0.38	5.85	4.91	0.64330	.	0.256528	0.33732	N	0.004607	T	0.17874	0.0429	N	0.14661	0.345	0.80722	D	1	B;B;B	0.15141	0.012;0.012;0.0	B;B;B	0.14023	0.01;0.01;0.0	T	0.09250	-1.0683	10	0.39692	T	0.17	.	6.775	0.23615	0.0908:0.0:0.625:0.2843	.	233;233;233	Q4G1A0;E7EW23;Q8N3C0	.;.;HELC1_HUMAN	L	233	ENSP00000358159:S233L;ENSP00000430769:S233L	ENSP00000358159:S233L	S	-	2	0	ASCC3	101402848	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.638000	0.46562	2.768000	0.95171	0.655000	0.94253	TCA		PASS	0.393	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		11	142	11	142	---	---	---	---
SEC63	11231	broad.mit.edu	37	6	108225923	108225923	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:108225923G>A	ENST00000369002.4	-	11	1143	c.964C>T	c.(964-966)Cag>Tag	p.Q322*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	322	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.Q322*(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		ATGAATTGCTGATCTGCAAAA	0.363																																						uc003psc.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(964-966)CAG>TAG		SEC63-like protein							106.0	108.0	107.0					6																	108225923		2203	4300	6503	SO:0001587	stop_gained	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108225923G>A	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.964C>T	6.37:g.108225923G>A	ENSP00000357998:p.Gln322*					SEC63_uc003psb.3_Nonsense_Mutation_p.Q182*	p.Q322*	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	11	1233	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	322			SEC63 1.|Cytoplasmic (Potential).		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Nonsense_Mutation	SNP	ENST00000369002.4	37	c.964C>T	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	G	37	6.427691	0.97559	.	.	ENSG00000025796	ENST00000369002;ENST00000423697	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-8.9249	19.1991	0.93704	0.0:0.0:1.0:0.0	.	.	.	.	X	322;182	.	ENSP00000357998:Q322X	Q	-	1	0	SEC63	108332616	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	9.120000	0.94369	2.532000	0.85374	0.585000	0.79938	CAG		PASS	0.363	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		102	182	102	182	---	---	---	---
CDK19	23097	broad.mit.edu	37	6	110953259	110953259	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:110953259C>A	ENST00000368911.3	-	6	799	c.620G>T	c.(619-621)gGt>gTt	p.G207V	CDK19_ENST00000413605.2_Missense_Mutation_p.G83V|CDK19_ENST00000323817.3_Missense_Mutation_p.G147V	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.G207V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						ATGCCTTGCACCAAGCAAAAG	0.358																																						uc003puh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(619-621)GGT>GTT		cell division cycle 2-like 6 (CDK8-like)							97.0	94.0	95.0					6																	110953259		2203	4300	6503	SO:0001583	missense	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110953259C>A	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.620G>T	6.37:g.110953259C>A	ENSP00000357907:p.Gly207Val					CDK19_uc003pui.1_Missense_Mutation_p.G147V|CDK19_uc011eax.1_Missense_Mutation_p.G83V	p.G207V	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN			6	693	-			207			Protein kinase.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	ENST00000368911.3	37	c.620G>T	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805883	0.90623	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605;ENST00000457688	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.17	5.17	0.71159	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	T	0.68375	0.2994	M	0.85299	2.745	0.80722	D	1	D;P	0.54601	0.967;0.921	P;P	0.58391	0.838;0.654	T	0.75178	-0.3409	10	0.87932	D	0	-18.3208	18.6633	0.91479	0.0:1.0:0.0:0.0	.	83;207	B4DUB1;Q9BWU1	.;CDK19_HUMAN	V	207;147;146;83;147	ENSP00000357907:G207V;ENSP00000317665:G147V;ENSP00000410604:G83V;ENSP00000415621:G147V	ENSP00000317665:G147V	G	-	2	0	CDK19	111059952	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.409000	0.81822	0.561000	0.74099	GGT		PASS	0.358	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		35	144	35	144	---	---	---	---
RFPL4B	442247	broad.mit.edu	37	6	112671663	112671663	+	Silent	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:112671663A>G	ENST00000441065.2	+	3	1065	c.753A>G	c.(751-753)ggA>ggG	p.G251G	RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	251	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.G251G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		AGCTCTTGGGAGAAGGGGAGA	0.448																																						uc003pvx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(751-753)GGA>GGG		ret finger protein-like 4B							64.0	63.0	63.0					6																	112671663		2161	4222	6383	SO:0001819	synonymous_variant	442247						zinc ion binding	g.chr6:112671663A>G	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.753A>G	6.37:g.112671663A>G							p.G251G	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	1065	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	251			B30.2/SPRY.		A2RU91	Silent	SNP	ENST00000441065.2	37	c.753A>G	CCDS34515.1																																																																																				PASS	0.448	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		45	131	45	131	---	---	---	---
NT5DC1	221294	broad.mit.edu	37	6	116565164	116565164	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:116565164G>C	ENST00000319550.4	+	12	1427	c.1345G>C	c.(1345-1347)Gat>Cat	p.D449H	RP3-486I3.5_ENST00000457319.1_RNA	NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	449							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.D449H(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		CTTATCAAGTGATGAGACACT	0.333																																					Colon(128;1440 1664 38087 41475 42869)	uc003pwj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1345-1347)GAT>CAT		5'-nucleotidase, cytosolic II-like 1 protein							50.0	51.0	51.0					6																	116565164		2203	4298	6501	SO:0001583	missense	221294						hydrolase activity|metal ion binding	g.chr6:116565164G>C	BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.1345G>C	6.37:g.116565164G>C	ENSP00000326858:p.Asp449His					NT5DC1_uc003pwk.2_Missense_Mutation_p.D441H|NT5DC1_uc003pwl.2_Missense_Mutation_p.D399H	p.D449H	NM_152729	NP_689942	Q5TFE4	NT5D1_HUMAN		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)	12	1440	+		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)	449					B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	ENST00000319550.4	37	c.1345G>C	CCDS5104.1	.	.	.	.	.	.	.	.	.	.	G	7.031	0.560635	0.13498	.	.	ENSG00000178425	ENST00000319550	T	0.23147	1.92	3.97	1.72	0.24424	HAD-like domain (1);	0.754446	0.12774	N	0.440256	T	0.05777	0.0151	L	0.36672	1.1	0.09310	N	1	B;B;B	0.30914	0.3;0.086;0.168	B;B;B	0.29353	0.101;0.064;0.064	T	0.34976	-0.9807	10	0.46703	T	0.11	-4.1605	1.6166	0.02705	0.143:0.1915:0.4696:0.1959	.	399;449;449	B3KR35;A8K2Z3;Q5TFE4	.;.;NT5D1_HUMAN	H	449	ENSP00000326858:D449H	ENSP00000326858:D449H	D	+	1	0	NT5DC1	116671857	0.992000	0.36948	0.000000	0.03702	0.011000	0.07611	2.528000	0.45624	0.229000	0.21039	0.650000	0.86243	GAT		PASS	0.333	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	NM_152729		17	88	17	88	---	---	---	---
DSE	29940	broad.mit.edu	37	6	116758235	116758235	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:116758235G>A	ENST00000331677.3	+	7	3048	c.2604G>A	c.(2602-2604)gaG>gaA	p.E868E	DSE_ENST00000359564.2_Silent_p.E868E|DSE_ENST00000537543.1_Silent_p.E887E|DSE_ENST00000452085.3_Silent_p.E868E			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	868					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)	p.E868E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TAACATACGAGAAACATAAAA	0.428																																						uc003pws.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2602-2604)GAG>GAA		dermatan sulfate epimerase precursor							109.0	107.0	107.0					6																	116758235		2203	4300	6503	SO:0001819	synonymous_variant	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116758235G>A	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2604G>A	6.37:g.116758235G>A						DSE_uc011ebg.1_Silent_p.E887E|DSE_uc003pwt.2_Silent_p.E868E|DSE_uc003pwu.2_Silent_p.E535E	p.E868E	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	6	2798	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	868					Q5R3K6	Silent	SNP	ENST00000331677.3	37	c.2604G>A	CCDS5107.1																																																																																				PASS	0.428	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		9	158	9	158	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117609813	117609813	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:117609813C>T	ENST00000368508.3	-	43	7084	c.6886G>A	c.(6886-6888)Gaa>Aaa	p.E2296K	ROS1_ENST00000368507.3_Missense_Mutation_p.E2290K	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2296					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E2296K(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GATTCAGATTCCTGGGAGCCT	0.453			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(6886-6888)GAA>AAA		proto-oncogene c-ros-1 protein precursor							101.0	102.0	102.0					6																	117609813		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117609813C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6886G>A	6.37:g.117609813C>T	ENSP00000357494:p.Glu2296Lys					ROS1_uc011ebi.1_RNA	p.E2296K	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	43	7085	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2296			Cytoplasmic (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.6886G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209975	0.39003	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.70986	-0.53;-0.53	4.5	4.5	0.54988	.	0.358004	0.23314	N	0.049522	T	0.37625	0.1010	L	0.29908	0.895	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.16217	-1.0410	10	0.56958	D	0.05	.	6.3495	0.21367	0.0:0.7139:0.1874:0.0987	.	2296	P08922	ROS1_HUMAN	K	2296;2290	ENSP00000357494:E2296K;ENSP00000357493:E2290K	ENSP00000357493:E2290K	E	-	1	0	ROS1	117716506	0.969000	0.33509	0.788000	0.31933	0.937000	0.57800	1.996000	0.40776	2.337000	0.79520	0.563000	0.77884	GAA		PASS	0.453	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			49	108	49	108	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117706937	117706937	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:117706937T>C	ENST00000368508.3	-	15	2411	c.2213A>G	c.(2212-2214)gAg>gGg	p.E738G	ROS1_ENST00000368507.3_Missense_Mutation_p.E733G|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	738					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E738G(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTGATAATTCTCTGAGATATC	0.458			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(2212-2214)GAG>GGG		proto-oncogene c-ros-1 protein precursor							139.0	122.0	127.0					6																	117706937		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117706937T>C	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2213A>G	6.37:g.117706937T>C	ENSP00000357494:p.Glu738Gly					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.E738G	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	15	2412	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	738			Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.2213A>G	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.120641	0.77323	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91068	-2.78;-2.78	5.37	5.37	0.77165	.	0.081827	0.52532	D	0.000078	D	0.86485	0.5944	L	0.27053	0.805	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	D	0.88672	0.3196	10	0.56958	D	0.05	.	14.7103	0.69225	0.0:0.0:0.0:1.0	.	738	P08922	ROS1_HUMAN	G	738;733	ENSP00000357494:E738G;ENSP00000357493:E733G	ENSP00000357493:E733G	E	-	2	0	ROS1	117813630	0.652000	0.27349	0.806000	0.32338	0.879000	0.50718	0.597000	0.24059	2.263000	0.75096	0.533000	0.62120	GAG		PASS	0.458	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			26	162	26	162	---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123600204	123600204	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:123600204G>A	ENST00000398178.3	-	25	1555	c.1534C>T	c.(1534-1536)Cca>Tca	p.P512S	TRDN_ENST00000334268.4_Missense_Mutation_p.P512S	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	512					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.P512S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AACATACGTGGAGGTTTAGGC	0.264																																						uc003pzj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1534-1536)CCA>TCA		triadin							193.0	177.0	182.0					6																	123600204		1819	4075	5894	SO:0001583	missense	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123600204G>A	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1534C>T	6.37:g.123600204G>A	ENSP00000381240:p.Pro512Ser					TRDN_uc010kem.1_Missense_Mutation_p.P13S	p.P512S	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	25	1556	-			512			Lumenal.		A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	c.1534C>T	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012133	0.54468	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.16897	2.31;2.31	4.24	2.4	0.29515	.	0.176316	0.27787	N	0.017847	T	0.02418	0.0074	N	0.19112	0.55	0.80722	D	1	B	0.33528	0.416	B	0.25884	0.064	T	0.40739	-0.9547	10	0.16420	T	0.52	.	5.0025	0.14271	0.1073:0.0:0.6849:0.2077	.	512	Q13061	TRDN_HUMAN	S	512;514;512	ENSP00000381240:P512S;ENSP00000333984:P512S	ENSP00000333984:P512S	P	-	1	0	TRDN	123641903	0.986000	0.35501	0.996000	0.52242	0.987000	0.75469	1.179000	0.31993	0.698000	0.31739	0.655000	0.94253	CCA		PASS	0.264	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				13	76	13	76	---	---	---	---
ECHDC1	55862	broad.mit.edu	37	6	127637624	127637624	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:127637624G>A	ENST00000531967.1	-	4	908	c.405C>T	c.(403-405)ttC>ttT	p.F135F	ECHDC1_ENST00000368289.2_Intron|ECHDC1_ENST00000474289.2_Silent_p.F129F|ECHDC1_ENST00000454859.3_Silent_p.F129F|RNA5SP217_ENST00000515959.1_RNA|ECHDC1_ENST00000528402.1_Intron|ECHDC1_ENST00000454591.2_Silent_p.F54F|ECHDC1_ENST00000368291.2_Intron|ECHDC1_ENST00000430841.2_Silent_p.F129F|ECHDC1_ENST00000309620.9_Intron	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	135						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)	p.F135F(1)		large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		TGTTTTGCATGAACATGCATA	0.269																																						uc003qax.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(403-405)TTC>TTT		enoyl Coenzyme A hydratase domain containing 1							100.0	95.0	96.0					6																	127637624		1796	4067	5863	SO:0001819	synonymous_variant	55862						catalytic activity	g.chr6:127637624G>A	AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.405C>T	6.37:g.127637624G>A						ECHDC1_uc003qaz.3_Silent_p.F129F|ECHDC1_uc010key.2_Silent_p.F54F|ECHDC1_uc003qay.3_Intron|ECHDC1_uc010kez.2_Intron|ECHDC1_uc010kex.2_Intron	p.F135F	NM_001139510	NP_001132982	Q9NTX5	ECHD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)	4	441	-			135					A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Silent	SNP	ENST00000531967.1	37	c.405C>T	CCDS47471.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386995	0.42308	.	.	ENSG00000093144	ENST00000368293;ENST00000525745	.	.	.	5.64	3.55	0.40652	.	.	.	.	.	T	0.47857	0.1468	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45977	-0.9224	5	0.32370	T	0.25	-15.9352	10.8135	0.46562	0.1784:0.0:0.8216:0.0	.	.	.	.	Y	88;156	.	ENSP00000357276:H88Y	H	-	1	0	ECHDC1	127679317	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.674000	0.37544	1.391000	0.46566	-0.137000	0.14449	CAT		PASS	0.269	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042131.2			7	204	7	204	---	---	---	---
THEMIS	387357	broad.mit.edu	37	6	128150625	128150625	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:128150625C>A	ENST00000368248.2	-	3	853	c.705G>T	c.(703-705)atG>atT	p.M235I	THEMIS_ENST00000537166.1_Missense_Mutation_p.M200I|THEMIS_ENST00000543064.1_Missense_Mutation_p.M235I|THEMIS_ENST00000368250.1_Missense_Mutation_p.M156I	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	235	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M235I(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACTCACATTTCATCACACCTT	0.373																																						uc003qbi.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)|skin(2)	4						c.(703-705)ATG>ATT		thymocyte selection pathway associated isoform							99.0	95.0	96.0					6																	128150625		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128150625C>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.705G>T	6.37:g.128150625C>A	ENSP00000357231:p.Met235Ile					THEMIS_uc010kfa.2_Missense_Mutation_p.M138I|THEMIS_uc011ebt.1_Missense_Mutation_p.M235I|THEMIS_uc010kfb.2_Missense_Mutation_p.M200I	p.M235I	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			4	1024	-			235			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.705G>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890145	0.52014	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	6.14	5.27	0.74061	.	0.216084	0.49916	D	0.000122	T	0.09774	0.0240	M	0.77313	2.365	0.26814	N	0.968934	P;P	0.40000	0.617;0.698	B;B	0.36845	0.173;0.234	T	0.06881	-1.0802	10	0.42905	T	0.14	-17.0971	15.4432	0.75204	0.0:0.9339:0.0:0.0661	.	235;235	F5H1J9;Q8N1K5	.;THMS1_HUMAN	I	156;235;235;200	ENSP00000357233:M156I;ENSP00000439594:M235I;ENSP00000357231:M235I;ENSP00000439863:M200I	ENSP00000357231:M235I	M	-	3	0	THEMIS	128192318	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.475000	0.53136	1.612000	0.50221	0.650000	0.86243	ATG		PASS	0.373	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		25	126	25	126	---	---	---	---
L3MBTL3	84456	broad.mit.edu	37	6	130392204	130392204	+	Silent	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:130392204G>T	ENST00000529410.1	+	15	1655	c.1176G>T	c.(1174-1176)acG>acT	p.T392T	L3MBTL3_ENST00000368136.2_Silent_p.T392T|L3MBTL3_ENST00000368139.2_Silent_p.T367T|L3MBTL3_ENST00000533560.1_Silent_p.T367T|L3MBTL3_ENST00000361794.2_Silent_p.T392T|L3MBTL3_ENST00000526019.1_Silent_p.T367T			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	392					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.T392T(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GTGTTGCTACGGTAACAGATA	0.418																																						uc003qbt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(1)	6						c.(1174-1176)ACG>ACT		l(3)mbt-like 3 isoform a							271.0	258.0	263.0					6																	130392204		2203	4300	6503	SO:0001819	synonymous_variant	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130392204G>T	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1176G>T	6.37:g.130392204G>T						L3MBTL3_uc003qbu.2_Silent_p.T367T	p.T392T	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	13	1346	+			392			MBT 2.		Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	ENST00000529410.1	37	c.1176G>T	CCDS34537.1																																																																																				PASS	0.418	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		84	431	84	431	---	---	---	---
SAMD3	154075	broad.mit.edu	37	6	130466548	130466548	+	Silent	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:130466548T>C	ENST00000368134.2	-	13	1823	c.1215A>G	c.(1213-1215)acA>acG	p.T405T	SAMD3_ENST00000457563.2_Silent_p.T429T|SAMD3_ENST00000439090.2_Silent_p.T405T|RP11-73O6.3_ENST00000609978.1_RNA|RP11-73O6.3_ENST00000415964.1_RNA|SAMD3_ENST00000437477.2_Silent_p.T405T	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	405								p.T405T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GGAGTAAACATGTGGCTGTCA	0.368																																						uc003qbv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1213-1215)ACA>ACG		sterile alpha motif domain containing 3 isoform							111.0	97.0	102.0					6																	130466548		2203	4300	6503	SO:0001819	synonymous_variant	154075							g.chr6:130466548T>C	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.1215A>G	6.37:g.130466548T>C						SAMD3_uc003qbx.2_Silent_p.T405T|SAMD3_uc003qbw.2_Silent_p.T405T	p.T405T	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	12	1541	-			405					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Silent	SNP	ENST00000368134.2	37	c.1215A>G	CCDS34539.1																																																																																				PASS	0.368	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		16	38	16	38	---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131186730	131186730	+	Silent	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:131186730T>C	ENST00000337057.3	-	17	2956	c.2775A>G	c.(2773-2775)gcA>gcG	p.A925A	EPB41L2_ENST00000524581.1_Silent_p.A303A|EPB41L2_ENST00000527659.1_Silent_p.A731A|EPB41L2_ENST00000529208.1_Silent_p.A855A|EPB41L2_ENST00000527411.1_Silent_p.A855A|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000525193.1_Silent_p.A626A|EPB41L2_ENST00000531410.1_Silent_p.A46A|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000528282.1_Silent_p.A667A|EPB41L2_ENST00000445890.2_Silent_p.A667A|EPB41L2_ENST00000530481.1_Silent_p.A772A|EPB41L2_ENST00000368128.2_Silent_p.A925A	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	925	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)	p.A925A(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGATGGTTTGTGCGGTCAGTA	0.458																																						uc003qch.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2773-2775)GCA>GCG		erythrocyte membrane protein band 4.1-like 2							325.0	239.0	268.0					6																	131186730		2203	4300	6503	SO:0001819	synonymous_variant	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131186730T>C	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2775A>G	6.37:g.131186730T>C						EPB41L2_uc003qce.1_Silent_p.A303A|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Silent_p.A667A|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Silent_p.A772A|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_Silent_p.A86A	p.A925A	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	17	2957	-	Breast(56;0.0639)		925			Carboxyl-terminal (CTD).		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Silent	SNP	ENST00000337057.3	37	c.2775A>G	CCDS5141.1																																																																																				PASS	0.458	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			55	102	55	102	---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131225642	131225642	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:131225642G>A	ENST00000337057.3	-	6	1073	c.892C>T	c.(892-894)Cct>Tct	p.P298S	EPB41L2_ENST00000527659.1_Missense_Mutation_p.P298S|EPB41L2_ENST00000529208.1_Missense_Mutation_p.P298S|EPB41L2_ENST00000527411.1_Missense_Mutation_p.P298S|EPB41L2_ENST00000525271.1_Missense_Mutation_p.P298S|EPB41L2_ENST00000525193.1_Missense_Mutation_p.P298S|EPB41L2_ENST00000392427.3_Missense_Mutation_p.P298S|EPB41L2_ENST00000528282.1_Missense_Mutation_p.P298S|EPB41L2_ENST00000445890.2_Missense_Mutation_p.P298S|EPB41L2_ENST00000530481.1_Missense_Mutation_p.P298S|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000368128.2_Missense_Mutation_p.P298S	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	298	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)	p.P298S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GGATCAGGAGGATAAAACTTC	0.328																																						uc003qch.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(892-894)CCT>TCT		erythrocyte membrane protein band 4.1-like 2							95.0	97.0	97.0					6																	131225642		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131225642G>A	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.892C>T	6.37:g.131225642G>A	ENSP00000338481:p.Pro298Ser					EPB41L2_uc003qcg.1_Missense_Mutation_p.P298S|EPB41L2_uc011eby.1_Missense_Mutation_p.P298S|EPB41L2_uc003qci.2_Missense_Mutation_p.P298S|EPB41L2_uc010kfk.2_Missense_Mutation_p.P298S|EPB41L2_uc010kfl.1_Missense_Mutation_p.P298S	p.P298S	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	6	1074	-	Breast(56;0.0639)		298			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.892C>T	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067284	0.93898	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	T;T;T;T;T;T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.73	5.73	0.89815	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88901	0.6563	M	0.87269	2.87	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.88438	0.3040	10	0.49607	T	0.09	.	19.9054	0.97006	0.0:0.0:1.0:0.0	.	298;298;298;298;298	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	S	298	ENSP00000434308:P298S;ENSP00000434576:P298S;ENSP00000402041:P298S;ENSP00000338481:P298S;ENSP00000376222:P298S;ENSP00000357110:P298S;ENSP00000436348:P298S;ENSP00000432803:P298S;ENSP00000431988:P298S;ENSP00000431647:P298S;ENSP00000436641:P298S	ENSP00000338481:P298S	P	-	1	0	EPB41L2	131267335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.698000	0.92095	0.655000	0.94253	CCT		PASS	0.328	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			26	128	26	128	---	---	---	---
TAAR9	134860	broad.mit.edu	37	6	132859711	132859711	+	RNA	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:132859711G>T	ENST00000434551.1	+	0	283					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		GAGGTCTGTGGAGAGCTGTTG	0.448																																					Colon(10;433 445 15992 45047 47213)	uc011eci.1																			0					0						c.(283-285)GAG>TAG		trace amine associated receptor 9							205.0	205.0	205.0					6																	132859711		2172	4280	6452			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132859711G>T	AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132859711G>T							p.E95*	NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	2	285	+	Breast(56;0.112)		95			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000434551.1	37	c.283G>T																																																																																					PASS	0.448	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		40	162	40	162	---	---	---	---
TAAR8	83551	broad.mit.edu	37	6	132874080	132874080	+	Silent	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:132874080T>A	ENST00000275200.1	+	1	249	c.249T>A	c.(247-249)acT>acA	p.T83T		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	83					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.T83T(1)		endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TAGGTGTGACTGTGATGCTTT	0.443																																						uc011ecj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(247-249)ACT>ACA		trace amine associated receptor 8							173.0	160.0	165.0					6																	132874080		2203	4300	6503	SO:0001819	synonymous_variant	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874080T>A	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.249T>A	6.37:g.132874080T>A							p.T83T	NM_053278	NP_444508	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	249	+	Breast(56;0.112)		83			Helical; Name=2; (Potential).		Q5VUQ0	Silent	SNP	ENST00000275200.1	37	c.249T>A	CCDS5154.1																																																																																				PASS	0.443	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		47	256	47	256	---	---	---	---
TAAR2	9287	broad.mit.edu	37	6	132939116	132939116	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:132939116G>C	ENST00000367931.1	-	2	228	c.229C>G	c.(229-231)Cca>Gca	p.P77A	TAAR2_ENST00000275191.2_Missense_Mutation_p.P32A|TAAR2_ENST00000537809.1_Missense_Mutation_p.P32A			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	77					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.P77A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AAGTTGGTTGGTGTGTGAAGC	0.428																																						uc003qdl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(229-231)CCA>GCA		trace amine associated receptor 2 isoform 1							128.0	120.0	123.0					6																	132939116		2203	4300	6503	SO:0001583	missense	9287					plasma membrane	G-protein coupled receptor activity	g.chr6:132939116G>C	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.229C>G	6.37:g.132939116G>C	ENSP00000356908:p.Pro77Ala					TAAR2_uc010kfr.1_Missense_Mutation_p.P32A	p.P77A	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	2	229	-	Breast(56;0.135)		77			Cytoplasmic (Potential).		Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	37	c.229C>G	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883334	0.72410	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.35048	1.33;1.33;1.33	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.140752	0.48286	D	0.000188	T	0.58793	0.2147	M	0.78916	2.43	0.50632	D	0.999886	D	0.89917	1.0	D	0.97110	1.0	T	0.59172	-0.7504	10	0.59425	D	0.04	-22.4049	20.1979	0.98245	0.0:0.0:1.0:0.0	.	77	Q9P1P5	TAAR2_HUMAN	A	32;77;32	ENSP00000275191:P32A;ENSP00000356908:P77A;ENSP00000441263:P32A	ENSP00000275191:P32A	P	-	1	0	TAAR2	132980809	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.617000	0.74210	2.846000	0.97976	0.650000	0.86243	CCA		PASS	0.428	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		30	137	30	137	---	---	---	---
SLC18B1	116843	broad.mit.edu	37	6	133100505	133100505	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:133100505C>G	ENST00000275227.4	-	7	793	c.697G>C	c.(697-699)Gct>Cct	p.A233P	SLC18B1_ENST00000538764.1_Missense_Mutation_p.A107P|SLC18B1_ENST00000367918.1_Intron	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	233					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.A233P(1)									TTGGGTAAAGCGATCAGTTTC	0.373																																						uc003qdw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(697-699)GCT>CCT		hypothetical protein LOC116843							159.0	149.0	152.0					6																	133100505		2203	4300	6503	SO:0001583	missense	116843				transmembrane transport	integral to membrane		g.chr6:133100505C>G	AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"""Solute carriers"""	21573	protein-coding gene	gene with protein product		613361	"""chromosome 6 open reading frame 192"""	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.697G>C	6.37:g.133100505C>G	ENSP00000275227:p.Ala233Pro					C6orf192_uc010kgd.1_RNA|C6orf192_uc011eco.1_Missense_Mutation_p.A107P	p.A233P	NM_052831	NP_439896	Q6NT16	CF192_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00303)|GBM - Glioblastoma multiforme(226;0.0265)	7	849	-			233			Helical; (Potential).		A8K1K3|B3KW77|Q6ISF2	Missense_Mutation	SNP	ENST00000275227.4	37	c.697G>C	CCDS5163.1	.	.	.	.	.	.	.	.	.	.	C	7.643	0.681346	0.14907	.	.	ENSG00000146409	ENST00000275227;ENST00000538764	T;T	0.59502	0.26;0.26	5.07	-3.6	0.04570	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.950123	0.08807	N	0.890859	T	0.19087	0.0458	N	0.22421	0.69	0.09310	N	1	P;P	0.47910	0.902;0.473	B;B	0.43575	0.424;0.13	T	0.07177	-1.0786	10	0.37606	T	0.19	-0.2925	4.0768	0.09908	0.3597:0.3264:0.0:0.3139	.	107;233	B7Z1S5;Q6NT16	.;CF192_HUMAN	P	233;107	ENSP00000275227:A233P;ENSP00000444098:A107P	ENSP00000275227:A233P	A	-	1	0	C6orf192	133142198	0.903000	0.30736	0.002000	0.10522	0.088000	0.18126	1.336000	0.33850	-0.646000	0.05452	-0.397000	0.06425	GCT		PASS	0.373	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042273.1	NM_052831		57	153	57	153	---	---	---	---
AHI1	54806	broad.mit.edu	37	6	135769471	135769471	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:135769471G>A	ENST00000367800.4	-	10	1799	c.1583C>T	c.(1582-1584)tCa>tTa	p.S528L	AHI1_ENST00000327035.6_Missense_Mutation_p.S528L|AHI1_ENST00000457866.2_Missense_Mutation_p.S528L	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	528					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)		p.S528L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GTACAGTGTTGATGGGTAATG	0.383																																						uc003qgi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(1582-1584)TCA>TTA		Abelson helper integration site 1 isoform a							128.0	117.0	121.0					6																	135769471		1895	4111	6006	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135769471G>A	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.1583C>T	6.37:g.135769471G>A	ENSP00000356774:p.Ser528Leu					AHI1_uc003qgg.2_5'UTR|AHI1_uc003qgh.2_Missense_Mutation_p.S528L|AHI1_uc003qgj.2_Missense_Mutation_p.S528L|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.S528L	p.S528L	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	12	1967	-	Breast(56;0.239)|Colorectal(23;0.24)		528					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.1583C>T	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.306188|5.306188	0.95629|0.95629	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367799|ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801	.|T;T;T;T	.|0.70986	.|-0.48;-0.48;-0.48;-0.53	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.82549	.|0.5061	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.996	.|T	.|0.83001	.|-0.0177	.|10	.|0.87932	.|D	.|0	-13.4926|-13.4926	20.2704|20.2704	0.98474|0.98474	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|528;528	.|Q8N157-2;Q8N157	.|.;AHI1_HUMAN	X|L	28|528	.|ENSP00000356774:S528L;ENSP00000388650:S528L;ENSP00000265602:S528L;ENSP00000322478:S528L	.|ENSP00000265602:S528L	Q|S	-|-	1|2	0|0	AHI1|AHI1	135811164|135811164	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.476000|9.476000	0.97823|0.97823	2.793000|2.793000	0.96121|0.96121	0.591000|0.591000	0.81541|0.81541	CAA|TCA		PASS	0.383	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		10	76	10	76	---	---	---	---
HECA	51696	broad.mit.edu	37	6	139487561	139487561	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:139487561G>C	ENST00000367658.2	+	2	697	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	138					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.E138Q(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CTACGAGTGGGAGAGCAGCAT	0.602																																						uc003qin.2																			1	Substitution - Missense(1)		lung(1)		0						c.(412-414)GAG>CAG		headcase							79.0	71.0	74.0					6																	139487561		2203	4300	6503	SO:0001583	missense	51696				respiratory tube development			g.chr6:139487561G>C	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.412G>C	6.37:g.139487561G>C	ENSP00000356630:p.Glu138Gln						p.E138Q	NM_016217	NP_057301	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	697	+			138						Missense_Mutation	SNP	ENST00000367658.2	37	c.412G>C	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647958	0.87958	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.74854	0.3771	M	0.66439	2.03	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.76683	-0.2869	9	0.87932	D	0	.	18.8879	0.92387	0.0:0.0:1.0:0.0	.	138	Q9UBI9	HDC_HUMAN	Q	138	.	ENSP00000356630:E138Q	E	+	1	0	HECA	139529254	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.166000	0.94766	2.767000	0.95098	0.655000	0.94253	GAG		PASS	0.602	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		16	131	16	131	---	---	---	---
HIVEP2	3097	broad.mit.edu	37	6	143092476	143092476	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:143092476C>A	ENST00000367604.1	-	4	4039	c.3400G>T	c.(3400-3402)Gac>Tac	p.D1134Y	HIVEP2_ENST00000367603.2_Missense_Mutation_p.D1134Y|HIVEP2_ENST00000012134.2_Missense_Mutation_p.D1134Y			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1134					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.D1134Y(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTCCCTGGGTCCTCTTGCTGA	0.642																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3400-3402)GAC>TAC		human immunodeficiency virus type I enhancer							34.0	39.0	38.0					6																	143092476		2041	4179	6220	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143092476C>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3400G>T	6.37:g.143092476C>A	ENSP00000356576:p.Asp1134Tyr						p.D1134Y	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	4143	-			1134					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.3400G>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783664	0.31593	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02552	4.25;4.25;4.25	5.67	5.67	0.87782	.	0.261392	0.42964	D	0.000627	T	0.05914	0.0154	M	0.67953	2.075	0.46749	D	0.999181	D	0.56521	0.976	P	0.51016	0.656	T	0.20472	-1.0274	10	0.59425	D	0.04	-15.1568	19.7763	0.96395	0.0:1.0:0.0:0.0	.	1134	P31629	ZEP2_HUMAN	Y	1134	ENSP00000356576:D1134Y;ENSP00000356575:D1134Y;ENSP00000012134:D1134Y	ENSP00000012134:D1134Y	D	-	1	0	HIVEP2	143134169	0.998000	0.40836	0.996000	0.52242	0.318000	0.28184	2.978000	0.49305	2.687000	0.91594	0.563000	0.77884	GAC		PASS	0.642	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			40	83	40	83	---	---	---	---
LTV1	84946	broad.mit.edu	37	6	144183253	144183253	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:144183253G>A	ENST00000367576.5	+	8	1070	c.936G>A	c.(934-936)ttG>ttA	p.L312L	ZC2HC1B_ENST00000237275.6_5'Flank|ZC2HC1B_ENST00000539295.1_5'Flank	NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	312						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L312L(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		GTGTAAAATTGAATACCCTTG	0.373																																						uc003qjs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(934-936)TTG>TTA		LTV1 homolog							81.0	81.0	81.0					6																	144183253		2203	4300	6503	SO:0001819	synonymous_variant	84946							g.chr6:144183253G>A	BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 93"", ""LTV1 homolog (S. cerevisiae)"""	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.936G>A	6.37:g.144183253G>A						LTV1_uc003qju.1_Silent_p.L97L|C6orf94_uc010khj.2_Intron|C6orf94_uc010khk.2_5'Flank|C6orf94_uc011edy.1_5'Flank	p.L312L	NM_032860	NP_116249	Q96GA3	LTV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)	8	1043	+			312					Q96JX8	Silent	SNP	ENST00000367576.5	37	c.936G>A	CCDS5201.1																																																																																				PASS	0.373	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042532.1	NM_032860		42	88	42	88	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144835108	144835108	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:144835108C>G	ENST00000367545.3	+	35	5008	c.5008C>G	c.(5008-5010)Caa>Gaa	p.Q1670E		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1670	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.Q1670E(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTGGCTTTATCAAGCTGAAGC	0.368																																						uc003qkt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(5008-5010)CAA>GAA		utrophin							105.0	106.0	106.0					6																	144835108		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144835108C>G	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5008C>G	6.37:g.144835108C>G	ENSP00000356515:p.Gln1670Glu						p.Q1670E	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	35	5100	+		Ovarian(120;0.218)	1670			Interaction with SYNM.|Spectrin 12.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.5008C>G	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095664	0.76870	.	.	ENSG00000152818	ENST00000367545	T	0.26518	1.73	4.84	4.84	0.62591	.	0.000000	0.47093	D	0.000260	T	0.37489	0.1005	L	0.55103	1.725	0.80722	D	1	D	0.64830	0.994	D	0.78314	0.991	T	0.03619	-1.1019	10	0.32370	T	0.25	.	18.3013	0.90164	0.0:1.0:0.0:0.0	.	1670	P46939	UTRO_HUMAN	E	1670	ENSP00000356515:Q1670E	ENSP00000356515:Q1670E	Q	+	1	0	UTRN	144876801	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.370000	0.79589	2.396000	0.81511	0.591000	0.81541	CAA		PASS	0.368	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			20	136	20	136	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144843120	144843120	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:144843120T>G	ENST00000367545.3	+	39	5546	c.5546T>G	c.(5545-5547)aTc>aGc	p.I1849S		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1849					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.I1849S(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTGTAGGCAATCCCTATTCAA	0.299																																						uc003qkt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(5545-5547)ATC>AGC		utrophin							89.0	93.0	92.0					6																	144843120		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144843120T>G	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5546T>G	6.37:g.144843120T>G	ENSP00000356515:p.Ile1849Ser						p.I1849S	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	39	5638	+		Ovarian(120;0.218)	1849					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.5546T>G	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	2.437	-0.329503	0.05314	.	.	ENSG00000152818	ENST00000367545	T	0.45276	0.9	5.52	2.81	0.32909	.	1.906710	0.02370	N	0.077727	T	0.12646	0.0307	N	0.11427	0.14	0.09310	N	0.999998	B	0.09022	0.002	B	0.04013	0.001	T	0.19321	-1.0309	10	0.66056	D	0.02	.	10.5048	0.44828	0.0:0.1546:0.0:0.8454	.	1849	P46939	UTRO_HUMAN	S	1849	ENSP00000356515:I1849S	ENSP00000356515:I1849S	I	+	2	0	UTRN	144884813	0.001000	0.12720	0.007000	0.13788	0.009000	0.06853	1.050000	0.30404	0.934000	0.37316	0.459000	0.35465	ATC		PASS	0.299	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			8	191	8	191	---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151121996	151121996	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:151121996C>G	ENST00000358517.2	+	6	982	c.771C>G	c.(769-771)ctC>ctG	p.L257L	PLEKHG1_ENST00000367328.1_Silent_p.L257L			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	257	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L257L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGTATCATCTCCTTCTGCATG	0.453																																						uc003qny.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(769-771)CTC>CTG		pleckstrin homology domain containing, family G							100.0	96.0	97.0					6																	151121996		2203	4300	6503	SO:0001819	synonymous_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151121996C>G	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.771C>G	6.37:g.151121996C>G						PLEKHG1_uc011eel.1_Silent_p.L297L|PLEKHG1_uc011eem.1_Silent_p.L316L|PLEKHG1_uc003qnz.2_Silent_p.L257L	p.L257L	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	7	1083	+			257			DH.		Q5T1F2	Silent	SNP	ENST00000358517.2	37	c.771C>G	CCDS34552.1																																																																																				PASS	0.453	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			18	177	18	177	---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151161515	151161515	+	Nonsense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:151161515C>G	ENST00000358517.2	+	16	3852	c.3641C>G	c.(3640-3642)tCa>tGa	p.S1214*	PLEKHG1_ENST00000367328.1_Nonsense_Mutation_p.S1214*			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1214							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1214*(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CACAGAAGTTCAAGGTGTGAG	0.468																																						uc003qny.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(3640-3642)TCA>TGA		pleckstrin homology domain containing, family G							89.0	87.0	88.0					6																	151161515		2203	4300	6503	SO:0001587	stop_gained	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151161515C>G	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.3641C>G	6.37:g.151161515C>G	ENSP00000351318:p.Ser1214*					PLEKHG1_uc011eem.1_Nonsense_Mutation_p.S1273*	p.S1214*	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	17	3953	+			1214					Q5T1F2	Nonsense_Mutation	SNP	ENST00000358517.2	37	c.3641C>G	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	39	7.607365	0.98387	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	.	.	.	5.67	3.87	0.44632	.	0.994140	0.08179	N	0.985787	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	10.3577	0.43974	0.0:0.7834:0.0:0.2166	.	.	.	.	X	1214	.	ENSP00000351318:S1214X	S	+	2	0	PLEKHG1	151203208	0.002000	0.14202	0.015000	0.15790	0.050000	0.14768	1.324000	0.33712	1.394000	0.46624	0.655000	0.94253	TCA		PASS	0.468	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			14	251	14	251	---	---	---	---
ZBTB2	57621	broad.mit.edu	37	6	151686676	151686676	+	Missense_Mutation	SNP	C	C	T	rs143773461		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:151686676C>T	ENST00000325144.4	-	3	1665	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	509					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.E509K(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		AAGACGGTTTCTTGTTCCTTT	0.443																																						uc003qoh.2																			2	Substitution - Missense(2)	p.E509K(1)	lung(1)|skin(1)	skin(1)	1						c.(1525-1527)GAA>AAA		zinc finger and BTB domain containing 2							118.0	114.0	115.0					6																	151686676		2203	4300	6503	SO:0001583	missense	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151686676C>T	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.1525G>A	6.37:g.151686676C>T	ENSP00000323183:p.Glu509Lys						p.E509K	NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	1660	-			509					A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	ENST00000325144.4	37	c.1525G>A	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675971	0.67928	.	.	ENSG00000181472	ENST00000325144	T	0.04862	3.54	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	N	0.19112	0.55	0.53005	D	0.999967	P	0.52842	0.956	P	0.62184	0.899	T	0.33523	-0.9865	10	0.72032	D	0.01	-28.2736	19.4309	0.94765	0.0:1.0:0.0:0.0	.	509	Q8N680	ZBTB2_HUMAN	K	509	ENSP00000323183:E509K	ENSP00000323183:E509K	E	-	1	0	ZBTB2	151728369	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.651000	0.67951	2.595000	0.87683	0.563000	0.77884	GAA		PASS	0.443	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		49	249	49	249	---	---	---	---
CCDC170	80129	broad.mit.edu	37	6	151936728	151936728	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:151936728A>G	ENST00000239374.7	+	10	1960	c.1861A>G	c.(1861-1863)Agg>Ggg	p.R621G	RNU6-813P_ENST00000384691.1_RNA|CCDC170_ENST00000367290.5_Missense_Mutation_p.R628G	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	621								p.R621G(1)									GAATAAAGAAAGGGCCAGAAA	0.408																																						uc003qol.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1861-1863)AGG>GGG		hypothetical protein LOC80129							154.0	148.0	150.0					6																	151936728		1850	4093	5943	SO:0001583	missense	80129							g.chr6:151936728A>G	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1861A>G	6.37:g.151936728A>G	ENSP00000239374:p.Arg621Gly						p.R621G	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	10	1950	+		Ovarian(120;0.126)	621			Potential.		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.1861A>G	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.004108	0.74932	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.10860	2.83;2.84	6.16	6.16	0.99307	.	0.166320	0.53938	D	0.000045	T	0.26955	0.0660	M	0.77820	2.39	0.44789	D	0.997794	D	0.89917	1.0	D	0.69824	0.966	T	0.02059	-1.1221	10	0.72032	D	0.01	-22.1008	16.8061	0.85666	1.0:0.0:0.0:0.0	.	621	Q8IYT3	CF097_HUMAN	G	621;628	ENSP00000239374:R621G;ENSP00000356259:R628G	ENSP00000239374:R621G	R	+	1	2	C6orf97	151978421	1.000000	0.71417	0.995000	0.50966	0.907000	0.53573	4.033000	0.57282	2.367000	0.80283	0.528000	0.53228	AGG		PASS	0.408	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		40	178	40	178	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152614876	152614876	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:152614876C>T	ENST00000367255.5	-	95	18460	c.17859G>A	c.(17857-17859)gaG>gaA	p.E5953E	SYNE1_ENST00000448038.1_Silent_p.E5882E|SYNE1_ENST00000423061.1_Silent_p.E5882E|SYNE1_ENST00000356820.4_Silent_p.E477E|SYNE1_ENST00000265368.4_Silent_p.E5953E|SYNE1_ENST00000341594.5_Silent_p.E5565E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5953					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E5953E(2)|p.E5882E(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCGCTGCTTCTCACTGATCT	0.473										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(17857-17859)GAG>GAA		spectrin repeat containing, nuclear envelope 1							107.0	102.0	104.0					6																	152614876		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152614876C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.17859G>A	6.37:g.152614876C>T		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Silent_p.E477E|SYNE1_uc003qos.3_Silent_p.E477E|SYNE1_uc003qot.3_Silent_p.E5882E|SYNE1_uc003qou.3_Silent_p.E5953E|SYNE1_uc010kiy.1_Silent_p.E128E	p.E5953E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	95	18461	-		Ovarian(120;0.0955)	5953			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.17859G>A	CCDS5236.2																																																																																				PASS	0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		82	152	82	152	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152697651	152697651	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:152697651C>A	ENST00000367255.5	-	58	9790	c.9189G>T	c.(9187-9189)caG>caT	p.Q3063H	SYNE1_ENST00000448038.1_Missense_Mutation_p.Q3070H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q3070H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q3063H|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q3102H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3063					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.Q3063H(2)|p.Q3070H(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTGTAAAATCTGTTCTTTAT	0.383										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(9187-9189)CAG>CAT		spectrin repeat containing, nuclear envelope 1							69.0	72.0	71.0					6																	152697651		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152697651C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9189G>T	6.37:g.152697651C>A	ENSP00000356224:p.Gln3063His	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.Q3070H|SYNE1_uc003qou.3_Missense_Mutation_p.Q3063H|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Missense_Mutation_p.Q141H|SYNE1_uc010kjb.1_3'UTR	p.Q3063H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	58	9791	-		Ovarian(120;0.0955)	3063			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.9189G>T	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.37|17.37	3.371985|3.371985	0.61624|0.61624	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000454018	T;T;T;T;T|.	0.54479|.	1.24;0.57;1.24;0.57;1.24|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.214260|.	0.33075|.	N|.	0.005301|.	T|T	0.62380|0.62380	0.2423|0.2423	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.71674|.	0.997;0.993;0.997;0.998|.	P;P;P;D|.	0.67725|.	0.898;0.85;0.898;0.953|.	T|T	0.61855|0.61855	-0.6977|-0.6977	10|5	0.46703|.	T|.	0.11|.	.|.	13.1052|13.1052	0.59244|0.59244	0.0:0.9269:0.0:0.0731|0.0:0.9269:0.0:0.0731	.|.	3063;180;3063;3070|.	Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4|.	SYNE1_HUMAN;.;.;.|.	H|I	3063;3070;3063;3070;3102|180	ENSP00000356224:Q3063H;ENSP00000396024:Q3070H;ENSP00000265368:Q3063H;ENSP00000390975:Q3070H;ENSP00000341887:Q3102H|.	ENSP00000265368:Q3063H|.	Q|R	-|-	3|2	2|0	SYNE1|SYNE1	152739344|152739344	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.439000|2.439000	0.44846|0.44846	2.707000|2.707000	0.92482|0.92482	0.655000|0.655000	0.94253|0.94253	CAG|AGA		PASS	0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		51	78	51	78	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152831423	152831423	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:152831423C>T	ENST00000367255.5	-	8	1087	c.486G>A	c.(484-486)gaG>gaA	p.E162E	SYNE1_ENST00000448038.1_Silent_p.E169E|SYNE1_ENST00000367248.3_Silent_p.E169E|SYNE1_ENST00000466159.2_Silent_p.E162E|SYNE1_ENST00000423061.1_Silent_p.E169E|SYNE1_ENST00000413186.2_Silent_p.E162E|SYNE1_ENST00000265368.4_Silent_p.E162E|SYNE1_ENST00000367253.4_Silent_p.E162E|SYNE1_ENST00000341594.5_Silent_p.E162E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	162	Actin-binding.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E162E(2)|p.E169E(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGCTGGGAGTCTCAGAGCTAA	0.493										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(484-486)GAG>GAA		spectrin repeat containing, nuclear envelope 1							175.0	153.0	161.0					6																	152831423		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152831423C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.486G>A	6.37:g.152831423C>T		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.E169E|SYNE1_uc003qou.3_Silent_p.E162E|SYNE1_uc010kjb.1_Silent_p.E162E|SYNE1_uc003qpa.1_Silent_p.E162E	p.E162E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	8	1088	-		Ovarian(120;0.0955)	162			Actin-binding.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.486G>A	CCDS5236.2																																																																																				PASS	0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		50	229	50	229	---	---	---	---
CLDN20	49861	broad.mit.edu	37	6	155597295	155597295	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:155597295C>T	ENST00000367165.3	+	2	822	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	TFB1M_ENST00000367166.4_Intron	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN	claudin 20	148					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.L148L(1)		endometrium(1)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		AGCAAACTTTCTGGATCTGAC	0.423																																						uc003qql.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(442-444)CTG>TTG		claudin 20							102.0	99.0	100.0					6																	155597295		2203	4300	6503	SO:0001819	synonymous_variant	49861				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr6:155597295C>T	BC020838	CCDS5249.1	6q25	2008-08-01			ENSG00000171217	ENSG00000171217		"""Claudins"""	2042	protein-coding gene	gene with protein product						16836752	Standard	NM_001001346		Approved		uc003qql.2	P56880	OTTHUMG00000015882	ENST00000367165.3:c.442C>T	6.37:g.155597295C>T						TFB1M_uc003qqj.3_Intron|TFB1M_uc003qqk.2_Intron	p.L148L	NM_001001346	NP_001001346	P56880	CLD20_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)	2	822	+			148			Extracellular (Potential).			Silent	SNP	ENST00000367165.3	37	c.442C>T	CCDS5249.1																																																																																				PASS	0.423	CLDN20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042818.1	NM_001001346		8	164	8	164	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157511333	157511333	+	Missense_Mutation	SNP	G	G	T	rs149389876		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:157511333G>T	ENST00000350026.5	+	14	3813	c.3812G>T	c.(3811-3813)gGa>gTa	p.G1271V	ARID1B_ENST00000275248.4_Missense_Mutation_p.G1266V|ARID1B_ENST00000367148.1_Missense_Mutation_p.G1324V|ARID1B_ENST00000346085.5_Missense_Mutation_p.G1284V	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1271			G -> E. {ECO:0000269|PubMed:22405089}.		chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.G1266V(1)|p.G1284V(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCCTTTGGGGGAATGAGAAAA	0.572																																						uc003qqn.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(3796-3798)GGA>GTA		AT rich interactive domain 1B (SWI1-like)							50.0	52.0	51.0					6																	157511333		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157511333G>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3812G>T	6.37:g.157511333G>T	ENSP00000055163:p.Gly1271Val					ARID1B_uc003qqo.2_Missense_Mutation_p.G1226V|ARID1B_uc003qqp.2_Missense_Mutation_p.G1213V	p.G1266V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	15	3949	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1271					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.3797G>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098649	0.56183	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02280	4.45;4.55;4.56;4.5;4.36	5.62	5.62	0.85841	.	0.057500	0.64402	D	0.000002	T	0.06188	0.0160	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.73380	0.956;0.98;0.98	T	0.39272	-0.9622	10	0.66056	D	0.02	.	19.6689	0.95903	0.0:0.0:1.0:0.0	.	1271;1284;1266	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	V	1284;1271;1324;1266;793	ENSP00000344546:G1284V;ENSP00000055163:G1271V;ENSP00000356116:G1324V;ENSP00000275248:G1266V;ENSP00000412835:G793V	ENSP00000275248:G1266V	G	+	2	0	ARID1B	157553025	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	6.295000	0.72744	2.642000	0.89623	0.655000	0.94253	GGA		PASS	0.572	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		4	137	4	137	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157527676	157527676	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:157527676G>C	ENST00000350026.5	+	19	5363	c.5362G>C	c.(5362-5364)Gac>Cac	p.D1788H	ARID1B_ENST00000275248.4_Missense_Mutation_p.D1783H|ARID1B_ENST00000367148.1_Missense_Mutation_p.D1841H|ARID1B_ENST00000346085.5_Missense_Mutation_p.D1801H	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1788					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.D1801H(1)|p.D1783H(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTTTGTTGTTGACCGATCTGA	0.537																																						uc003qqn.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(5347-5349)GAC>CAC		AT rich interactive domain 1B (SWI1-like)							121.0	119.0	120.0					6																	157527676		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157527676G>C	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5362G>C	6.37:g.157527676G>C	ENSP00000055163:p.Asp1788His					ARID1B_uc003qqo.2_Missense_Mutation_p.D1743H|ARID1B_uc003qqp.2_Missense_Mutation_p.D1730H	p.D1783H	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	5499	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1788					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.5347G>C	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	11.54	1.668100	0.29604	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02890	4.45;4.45;4.42;4.42;4.12	5.03	5.03	0.67393	.	0.046853	0.85682	D	0.000000	T	0.08268	0.0206	M	0.77313	2.365	0.80722	D	1	D;D;D	0.59767	0.976;0.986;0.986	P;P;P	0.57152	0.656;0.814;0.814	T	0.03717	-1.1010	10	0.72032	D	0.01	.	18.3553	0.90355	0.0:0.0:1.0:0.0	.	1788;1801;1783	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	H	1801;1788;1841;1783;1310	ENSP00000344546:D1801H;ENSP00000055163:D1788H;ENSP00000356116:D1841H;ENSP00000275248:D1783H;ENSP00000412835:D1310H	ENSP00000275248:D1783H	D	+	1	0	ARID1B	157569368	1.000000	0.71417	0.745000	0.31077	0.681000	0.39784	6.020000	0.70826	2.324000	0.78689	0.313000	0.20887	GAC		PASS	0.537	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		134	349	134	349	---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160469408	160469408	+	Splice_Site	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:160469408C>G	ENST00000356956.1	+	18	2495	c.2347C>G	c.(2347-2349)Ctg>Gtg	p.L783V		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	783					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.L783V(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AAATTTTAGTCTGGCAAAATC	0.393																																						uc003qta.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2347-2349)CTG>GTG		insulin-like growth factor 2 receptor precursor							85.0	78.0	80.0					6																	160469408		2203	4300	6503	SO:0001630	splice_region_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160469408C>G	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2346-1C>G	6.37:g.160469408C>G							p.L783V	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	18	2495	+		Breast(66;0.000777)|Ovarian(120;0.0305)	783			5.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.2347C>G	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350424	0.82132	.	.	ENSG00000197081	ENST00000356956	T	0.06608	3.28	5.3	3.25	0.37280	Mannose-6-phosphate receptor, binding (1);	0.000000	0.64402	D	0.000001	T	0.18509	0.0444	H	0.94264	3.515	0.49915	D	0.99983	D	0.89917	1.0	D	0.87578	0.998	T	0.01626	-1.1309	10	0.72032	D	0.01	-6.9972	4.0218	0.09668	0.0:0.4889:0.0:0.5111	.	783	P11717	MPRI_HUMAN	V	783	ENSP00000349437:L783V	ENSP00000349437:L783V	L	+	1	2	IGF2R	160389398	0.879000	0.30193	0.032000	0.17829	0.895000	0.52256	1.411000	0.34702	1.231000	0.43661	0.655000	0.94253	CTG		PASS	0.393	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	Missense_Mutation	7	126	7	126	---	---	---	---
C6orf118	168090	broad.mit.edu	37	6	165715321	165715321	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr6:165715321G>C	ENST00000230301.8	-	2	510	c.490C>G	c.(490-492)Cct>Gct	p.P164A	C6orf118_ENST00000543069.1_Missense_Mutation_p.P60A	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	164								p.P164A(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCCCGTCCAGGAGGGCCTCCT	0.617																																						uc003qum.3																			1	Substitution - Missense(1)		lung(1)		0						c.(490-492)CCT>GCT		hypothetical protein LOC168090							40.0	48.0	45.0					6																	165715321		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715321G>C		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.490C>G	6.37:g.165715321G>C	ENSP00000230301:p.Pro164Ala					C6orf118_uc011egi.1_RNA	p.P164A	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	526	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	164					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.490C>G	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	G	1.290	-0.607743	0.03717	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.12984	2.63;2.63	0.691	0.691	0.18045	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	0.09310	N	1	B	0.27498	0.18	B	0.15484	0.013	T	0.47394	-0.9121	9	0.17832	T	0.49	.	4.51	0.11906	0.0:0.4226:0.5773:0.0	.	164	Q5T5N4	CF118_HUMAN	A	164;60	ENSP00000230301:P164A;ENSP00000439288:P60A	ENSP00000230301:P164A	P	-	1	0	C6orf118	165635311	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.667000	0.25112	0.653000	0.30826	0.511000	0.50034	CCT		PASS	0.617	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		46	108	46	108	---	---	---	---
PRKAR1B	5575	broad.mit.edu	37	7	590102	590102	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:590102G>T	ENST00000406797.1	-	11	1285	c.1111C>A	c.(1111-1113)Cag>Aag	p.Q371K	AC147651.2_ENST00000517177.1_RNA|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.Q371K|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.Q371K|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.Q371K|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.Q371K	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	371					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|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)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)	p.Q371K(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		TTGTAACGCTGAATGTTCCTC	0.652																																						uc003siu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1111-1113)CAG>AAG		protein kinase, cAMP-dependent, regulatory, type							98.0	66.0	77.0					7																	590102		2190	4286	6476	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:590102G>T	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.1111C>A	7.37:g.590102G>T	ENSP00000385749:p.Gln371Lys					PRKAR1B_uc003siv.2_Missense_Mutation_p.Q371K|PRKAR1B_uc003siw.1_Missense_Mutation_p.Q371K	p.Q371K	NM_002735	NP_002726	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	12	1217	-		Ovarian(82;0.0779)	371			cAMP 2.		Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.1111C>A	CCDS34579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.060401|3.060401	0.55432|0.55432	.|.	.|.	ENSG00000188191|ENSG00000188191	ENST00000400758|ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274	.|D;D;D;D;D	.|0.87887	.|-2.31;-2.31;-2.31;-2.31;-2.31	4.65|4.65	4.65|4.65	0.58169|0.58169	.|Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.78874|0.78874	0.4352|0.4352	N|N	0.16233|0.16233	0.39|0.39	0.80722|0.80722	D|D	1|1	.|B	.|0.10296	.|0.003	.|B	.|0.08055	.|0.003	T|T	0.73116|0.73116	-0.4084|-0.4084	5|10	.|0.29301	.|T	.|0.29	-0.7056|-0.7056	17.526|17.526	0.87800|0.87800	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|371	.|P31321	.|KAP1_HUMAN	L|K	231|371	.|ENSP00000440449:Q371K;ENSP00000444487:Q371K;ENSP00000385749:Q371K;ENSP00000385349:Q371K;ENSP00000353415:Q371K	.|ENSP00000353415:Q371K	F|Q	-|-	3|1	2|0	PRKAR1B|PRKAR1B	556628|556628	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.154000|9.154000	0.94694|0.94694	2.149000|2.149000	0.67028|0.67028	0.561000|0.561000	0.74099|0.74099	TTC|CAG		PASS	0.652	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			10	17	10	17	---	---	---	---
C7orf50	84310	broad.mit.edu	37	7	1040111	1040111	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:1040111C>A	ENST00000397098.3	-	4	1326	c.400G>T	c.(400-402)Gac>Tac	p.D134Y	C7orf50_ENST00000397100.2_Missense_Mutation_p.D134Y|C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Missense_Mutation_p.D134Y			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	134							poly(A) RNA binding (GO:0044822)	p.D134Y(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CACACCTTGTCACTGTCATAC	0.612																																						uc003sju.2																			1	Substitution - Missense(1)		lung(1)		0						c.(400-402)GAC>TAC		hypothetical protein LOC84310							173.0	114.0	134.0					7																	1040111		2187	4291	6478	SO:0001583	missense	84310						protein binding	g.chr7:1040111C>A	BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.400G>T	7.37:g.1040111C>A	ENSP00000380286:p.Asp134Tyr					C7orf50_uc003sjs.2_RNA|C7orf50_uc011jvt.1_Missense_Mutation_p.D134Y|C7orf50_uc011jvu.1_Missense_Mutation_p.D134Y	p.D134Y	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)	4	470	-		Ovarian(82;0.0779)	134						Missense_Mutation	SNP	ENST00000397098.3	37	c.400G>T	CCDS5320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.79|11.79	1.744190|1.744190	0.30865|0.30865	.|.	.|.	ENSG00000146540|ENSG00000146540	ENST00000397100;ENST00000397098;ENST00000357429;ENST00000444428;ENST00000491163|ENST00000412051	.|.	.|.	.|.	4.74|4.74	0.221|0.221	0.15283|0.15283	.|.	0.262147|.	0.33346|.	N|.	0.005012|.	T|.	0.42223|.	0.1193|.	L|L	0.58101|0.58101	1.795|1.795	0.09310|0.09310	N|N	1|1	P|.	0.39862|.	0.692|.	B|.	0.35859|.	0.212|.	T|.	0.35847|.	-0.9772|.	9|.	0.72032|.	D|.	0.01|.	-23.4812|-23.4812	7.7136|7.7136	0.28692|0.28692	0.0:0.5646:0.0:0.4354|0.0:0.5646:0.0:0.4354	.|.	134|.	Q9BRJ6|.	CG050_HUMAN|.	Y|L	134;134;134;102;134|118	.|.	ENSP00000350011:D134Y|.	D|X	-|-	1|2	0|2	C7orf50|C7orf50	1006637|1006637	0.800000|0.800000	0.28916|0.28916	0.046000|0.046000	0.18839|0.18839	0.085000|0.085000	0.17905|0.17905	1.730000|1.730000	0.38125|0.38125	0.098000|0.098000	0.17522|0.17522	0.549000|0.549000	0.68633|0.68633	GAC|TGA		PASS	0.612	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322817.3	NM_032350		12	23	12	23	---	---	---	---
CHST12	55501	broad.mit.edu	37	7	2472883	2472883	+	Silent	SNP	G	G	A	rs531272657		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:2472883G>A	ENST00000258711.6	+	2	744	c.609G>A	c.(607-609)ccG>ccA	p.P203P		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	203					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|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 Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)	p.P203P(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TGCGCATCCCGCGCGAGCACG	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		17290	0.001		0.0	False		,,,				2504	0.0					uc003smc.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	kidney(1)	1						c.(607-609)CCG>CCA		carbohydrate sulfotransferase 12							45.0	38.0	40.0					7																	2472883		2203	4297	6500	SO:0001819	synonymous_variant	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2472883G>A	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.609G>A	7.37:g.2472883G>A						CHST12_uc003smd.2_Silent_p.P203P	p.P203P	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	744	+		Ovarian(82;0.0253)	203			Lumenal (Potential).		A4D1Z9|Q502W3|Q9NXY7	Silent	SNP	ENST00000258711.6	37	c.609G>A	CCDS5333.1																																																																																				PASS	0.657	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		35	68	35	68	---	---	---	---
GNA12	2768	broad.mit.edu	37	7	2771177	2771177	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:2771177T>G	ENST00000275364.3	-	4	946	c.784A>C	c.(784-786)Atg>Ctg	p.M262L	GNA12_ENST00000544127.1_Missense_Mutation_p.M169L|GNA12_ENST00000407904.3_Missense_Mutation_p.M203L|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000407653.1_Missense_Mutation_p.M186L|GNA12_ENST00000396960.3_Missense_Mutation_p.M114L|AMZ1_ENST00000489665.1_Intron	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	262					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.M262L(1)		endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		CTGTCCTCCATGAGGACCTGG	0.577																																						uc003smu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(784-786)ATG>CTG		guanine nucleotide binding protein (G protein)							128.0	111.0	117.0					7																	2771177		2203	4300	6503	SO:0001583	missense	2768				G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:2771177T>G	L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.784A>C	7.37:g.2771177T>G	ENSP00000275364:p.Met262Leu					GNA12_uc011jwb.1_Missense_Mutation_p.M245L|GNA12_uc003smt.2_Missense_Mutation_p.M203L	p.M262L	NM_007353	NP_031379	Q03113	GNA12_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)	4	948	-		Ovarian(82;0.0112)	262					A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Missense_Mutation	SNP	ENST00000275364.3	37	c.784A>C	CCDS5335.1	.	.	.	.	.	.	.	.	.	.	T	13.32	2.203303	0.38905	.	.	ENSG00000146535	ENST00000275364;ENST00000407904;ENST00000407653;ENST00000396960;ENST00000544127	D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28	6.17	5.03	0.67393	.	0.038200	0.85682	D	0.000000	T	0.74390	0.3710	N	0.11313	0.125	0.54753	D	0.999986	B;B;B	0.20988	0.05;0.001;0.026	B;B;B	0.19148	0.024;0.007;0.024	T	0.67197	-0.5731	10	0.22109	T	0.4	.	12.1016	0.53788	0.0:0.0662:0.0:0.9338	.	262;262;203	Q5PPR5;Q03113;B3KXS2	.;GNA12_HUMAN;.	L	262;203;186;114;169	ENSP00000275364:M262L;ENSP00000385935:M203L;ENSP00000386054:M186L;ENSP00000380160:M114L;ENSP00000437469:M169L	ENSP00000275364:M262L	M	-	1	0	GNA12	2737703	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.201000	0.72124	1.165000	0.42670	0.533000	0.62120	ATG		PASS	0.577	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241608.1	NM_007353		82	243	82	243	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11485806	11485806	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:11485806C>A	ENST00000423059.4	-	13	3197	c.2946G>T	c.(2944-2946)ttG>ttT	p.L982F	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	982	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L982F(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCATTCCCAGCAACACTTCCA	0.443										HNSCC(18;0.044)																												uc003ssf.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2944-2946)TTG>TTT		thrombospondin, type I, domain containing 7A							311.0	287.0	295.0					7																	11485806		1948	4146	6094	SO:0001583	missense	221981					integral to membrane		g.chr7:11485806C>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2946G>T	7.37:g.11485806C>A	ENSP00000406482:p.Leu982Phe	HNSCC(18;0.044)					p.L982F	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	13	3198	-			982			TSP type-1 10.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.2946G>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	3.684	-0.064932	0.07273	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59906	0.23	5.74	-11.5	0.00074	.	0.782674	0.11209	N	0.587869	T	0.31606	0.0802	N	0.08118	0	0.25424	N	0.988241	P	0.36249	0.545	B	0.40864	0.342	T	0.56944	-0.7895	10	0.54805	T	0.06	.	10.546	0.45060	0.0:0.3738:0.2853:0.3409	.	982	Q9UPZ6	THS7A_HUMAN	F	982	ENSP00000406482:L982F	ENSP00000262042:L982F	L	-	3	2	THSD7A	11452331	0.000000	0.05858	0.000000	0.03702	0.168000	0.22595	-1.670000	0.01956	-2.649000	0.00425	-1.054000	0.02325	TTG		PASS	0.443	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		16	310	16	310	---	---	---	---
KLHL7	55975	broad.mit.edu	37	7	23163419	23163419	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:23163419C>T	ENST00000339077.5	+	2	387	c.144C>T	c.(142-144)ctC>ctT	p.L48L	KLHL7_ENST00000410047.1_Silent_p.L26L|KLHL7_ENST00000409689.1_5'UTR|KLHL7_ENST00000539124.1_Intron|KLHL7_ENST00000545771.1_Silent_p.L26L|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000322275.5_Silent_p.L48L|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000545443.1_Silent_p.L26L|KLHL7_ENST00000322231.7_Silent_p.L26L	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	48	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.L26L(1)|p.L48L(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACGTGATCCTCATGGTCCAGG	0.368																																						uc003svs.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(142-144)CTC>CTT		kelch-like 7 isoform 1							147.0	131.0	137.0					7																	23163419		2203	4300	6503	SO:0001819	synonymous_variant	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23163419C>T		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.144C>T	7.37:g.23163419C>T						KLHL7_uc003svr.3_Silent_p.L26L|KLHL7_uc011jys.1_Intron|KLHL7_uc011jyt.1_Intron|KLHL7_uc003svt.2_5'UTR|KLHL7_uc003svp.2_Silent_p.L26L|KLHL7_uc003svq.2_Silent_p.L48L|KLHL7_uc011jyu.1_Silent_p.L26L	p.L48L	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN			2	437	+			48			BTB.		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Silent	SNP	ENST00000339077.5	37	c.144C>T	CCDS34609.1																																																																																				PASS	0.368	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		8	123	8	123	---	---	---	---
STK31	56164	broad.mit.edu	37	7	23854829	23854829	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:23854829C>G	ENST00000355870.3	+	23	2946	c.2827C>G	c.(2827-2829)Ctg>Gtg	p.L943V	STK31_ENST00000433467.2_Intron|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Missense_Mutation_p.L920V|STK31_ENST00000428484.1_Missense_Mutation_p.L920V	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	943	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.L943V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCAGTTTCATCTGGTATGTGA	0.338																																						uc003sws.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(2827-2829)CTG>GTG		serine/threonine kinase 31 isoform a							123.0	118.0	120.0					7																	23854829		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23854829C>G	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2827C>G	7.37:g.23854829C>G	ENSP00000348132:p.Leu943Val					STK31_uc003swt.3_Missense_Mutation_p.L920V|STK31_uc011jze.1_Intron|STK31_uc010kuq.2_Missense_Mutation_p.L920V|STK31_uc003swv.1_Missense_Mutation_p.L109V	p.L943V	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			23	2894	+			943			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.2827C>G	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941793	0.34283	.	.	ENSG00000196335	ENST00000355870;ENST00000354639;ENST00000428484	T;T;T	0.74209	-0.82;-0.82;-0.82	4.63	-0.445	0.12242	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.129260	0.34853	N	0.003629	T	0.74921	0.3780	L	0.55481	1.735	0.27496	N	0.95213	D;D	0.63046	0.992;0.992	P;P	0.58077	0.832;0.832	T	0.67421	-0.5675	10	0.62326	D	0.03	-5.0213	7.2426	0.26104	0.0:0.4159:0.0:0.5841	.	943;943	A4D159;Q9BXU1	.;STK31_HUMAN	V	943;920;920	ENSP00000348132:L943V;ENSP00000346660:L920V;ENSP00000406146:L920V	ENSP00000346660:L920V	L	+	1	2	STK31	23821354	0.995000	0.38212	0.996000	0.52242	0.878000	0.50629	0.105000	0.15333	0.052000	0.16007	-0.509000	0.04479	CTG		PASS	0.338	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		4	97	4	97	---	---	---	---
SNX10	29887	broad.mit.edu	37	7	26411513	26411513	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:26411513A>T	ENST00000338523.4	+	6	571	c.384A>T	c.(382-384)gaA>gaT	p.E128D	SNX10_ENST00000462993.1_3'UTR|AC004540.4_ENST00000451264.1_RNA|SNX10_ENST00000446848.2_Missense_Mutation_p.E154D|AC004540.4_ENST00000451368.1_RNA|SNX10_ENST00000409838.1_Missense_Mutation_p.E44D|SNX10_ENST00000409367.1_Missense_Mutation_p.E88D|SNX10_ENST00000396376.1_Missense_Mutation_p.E128D	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	128					cilium assembly (GO:0042384)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|osteoclast differentiation (GO:0030316)|protein localization to centrosome (GO:0071539)|protein localization to cilium (GO:0061512)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extrinsic component of endosome membrane (GO:0031313)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|ATPase binding (GO:0051117)	p.E128D(1)		endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						TGAATTCAGAAGACATTGAGG	0.383																																						uc003sxx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(382-384)GAA>GAT		sorting nexin 10							130.0	128.0	129.0					7																	26411513		2203	4300	6503	SO:0001583	missense	29887				cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding	g.chr7:26411513A>T	AF121860	CCDS5399.1, CCDS56470.1	7p15.2	2008-05-22			ENSG00000086300	ENSG00000086300		"""Sorting nexins"""	14974	protein-coding gene	gene with protein product		614780				17012226	Standard	NM_013322		Approved		uc010kuu.3	Q9Y5X0	OTTHUMG00000023650	ENST00000338523.4:c.384A>T	7.37:g.26411513A>T	ENSP00000343709:p.Glu128Asp					SNX10_uc011jzg.1_Missense_Mutation_p.E151D|SNX10_uc010kuu.2_Missense_Mutation_p.E128D|SNX10_uc010kuv.2_Missense_Mutation_p.E124D|SNX10_uc010kuw.2_Missense_Mutation_p.E44D	p.E128D	NM_013322	NP_037454	Q9Y5X0	SNX10_HUMAN			6	599	+			128					E9PFH5|Q8IYT5	Missense_Mutation	SNP	ENST00000338523.4	37	c.384A>T	CCDS5399.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.290691	0.40494	.	.	ENSG00000086300	ENST00000416246;ENST00000338523;ENST00000446848;ENST00000396376;ENST00000409367;ENST00000409838	T;T;T;T;T;T	0.64991	-0.13;0.46;0.44;0.46;-0.13;0.83	5.83	-5.17	0.02849	.	0.153835	0.56097	D	0.000024	T	0.41096	0.1144	L	0.53249	1.67	0.36019	D	0.838603	P;P	0.45044	0.849;0.849	B;B	0.39503	0.301;0.222	T	0.54794	-0.8240	10	0.13108	T	0.6	.	3.3863	0.07273	0.4304:0.1094:0.3544:0.1058	.	154;128	B4DJM0;Q9Y5X0	.;SNX10_HUMAN	D	154;128;154;128;88;44	ENSP00000408164:E154D;ENSP00000343709:E128D;ENSP00000395474:E154D;ENSP00000379661:E128D;ENSP00000387274:E88D;ENSP00000386540:E44D	ENSP00000343709:E128D	E	+	3	2	SNX10	26378038	0.984000	0.35163	0.204000	0.23530	0.916000	0.54674	0.251000	0.18257	-1.332000	0.02249	-0.341000	0.08007	GAA		PASS	0.383	SNX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214120.1			155	139	155	139	---	---	---	---
HOXA3	3200	broad.mit.edu	37	7	27148056	27148056	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:27148056G>A	ENST00000396352.4	-	3	1009	c.810C>T	c.(808-810)ccC>ccT	p.P270P	HOXA3_ENST00000521401.1_5'Flank|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Silent_p.P270P	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	270					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P270P(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CGGCTCCGGGGGGCACGGGGC	0.617																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	uc011jzl.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(808-810)CCC>CCT		homeobox A3 isoform a							98.0	98.0	98.0					7																	27148056		2203	4300	6503	SO:0001819	synonymous_variant	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27148056G>A		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.810C>T	7.37:g.27148056G>A						HOXA3_uc011jzk.1_Silent_p.P112P|HOXA3_uc003syk.2_Silent_p.P270P	p.P270P	NM_030661	NP_109377	O43365	HXA3_HUMAN			3	1010	-			270					A4D181	Silent	SNP	ENST00000396352.4	37	c.810C>T	CCDS5404.1																																																																																				PASS	0.617	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			70	74	70	74	---	---	---	---
CHN2	1124	broad.mit.edu	37	7	29407588	29407588	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:29407588C>G	ENST00000222792.6	+	3	659	c.129C>G	c.(127-129)atC>atG	p.I43M	CHN2_ENST00000539389.1_Missense_Mutation_p.I43M|CHN2_ENST00000539406.1_Missense_Mutation_p.I118M|CHN2_ENST00000495789.2_Missense_Mutation_p.I56M|CHN2_ENST00000546235.1_Missense_Mutation_p.I28M|CHN2_ENST00000435288.2_Missense_Mutation_p.I43M	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	43					positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.I43M(2)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CCAAGAGAATCATTTGTCCTC	0.403																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(127-129)ATC>ATG		beta chimerin isoform 2							121.0	117.0	118.0					7																	29407588		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29407588C>G	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.129C>G	7.37:g.29407588C>G	ENSP00000222792:p.Ile43Met					CHN2_uc011jzs.1_Missense_Mutation_p.I118M|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Intron|CHN2_uc011jzt.1_Missense_Mutation_p.I56M|CHN2_uc010kvd.2_Missense_Mutation_p.I43M|CHN2_uc011jzu.1_Missense_Mutation_p.I28M	p.I43M	NM_004067	NP_004058	P52757	CHIO_HUMAN			3	566	+			43					A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.129C>G	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435096	0.43224	.	.	ENSG00000106069	ENST00000439384;ENST00000539406;ENST00000222792;ENST00000435288;ENST00000409350;ENST00000495789;ENST00000539389;ENST00000546235	T;T;T;T;T;T;T;T	0.71579	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.58;-0.15	5.12	3.31	0.37934	.	0.225855	0.44285	N	0.000475	T	0.72211	0.3432	L	0.47716	1.5	0.80722	D	1	B;P;D;B;P	0.58268	0.209;0.838;0.982;0.254;0.838	B;B;P;B;B	0.59546	0.066;0.367;0.859;0.071;0.202	T	0.70011	-0.4989	10	0.56958	D	0.05	.	5.9082	0.19012	0.1517:0.6847:0.0:0.1636	.	28;56;118;43;43	B7Z1W9;B7Z1V0;F5H003;B3VCG1;P52757	.;.;.;.;CHIO_HUMAN	M	118;118;43;43;56;56;43;28	ENSP00000409843:I118M;ENSP00000444063:I118M;ENSP00000222792:I43M;ENSP00000400282:I43M;ENSP00000386968:I56M;ENSP00000438587:I56M;ENSP00000440526:I43M;ENSP00000442812:I28M	ENSP00000222792:I43M	I	+	3	3	CHN2	29374113	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.134000	0.42102	0.559000	0.29153	0.585000	0.79938	ATC		PASS	0.403	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		7	104	7	104	---	---	---	---
FAM188B	84182	broad.mit.edu	37	7	30890105	30890105	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:30890105G>A	ENST00000265299.6	+	10	1558	c.1481G>A	c.(1480-1482)tGc>tAc	p.C494Y	INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_5'Flank|AQP1_ENST00000509504.1_5'Flank	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	494								p.C494Y(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGGACCCGCTGCCTCGTCCTG	0.602																																						uc003tbt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1480-1482)TGC>TAC		hypothetical protein LOC84182							63.0	81.0	75.0					7																	30890105		2088	4213	6301	SO:0001583	missense	84182							g.chr7:30890105G>A	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1481G>A	7.37:g.30890105G>A	ENSP00000265299:p.Cys494Tyr					FAM188B_uc010kwe.2_Missense_Mutation_p.C465Y|AQP1_uc011kac.1_5'Flank	p.C494Y	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			10	1558	+			494					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.1481G>A	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907894	0.52333	.	.	ENSG00000106125	ENST00000265299	T	0.33438	1.41	5.44	5.44	0.79542	.	0.112717	0.64402	D	0.000013	T	0.53916	0.1826	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.54931	-0.8219	10	0.87932	D	0	-18.5981	15.1411	0.72612	0.0:0.0:1.0:0.0	.	494	Q4G0A6	F188B_HUMAN	Y	494	ENSP00000265299:C494Y	ENSP00000265299:C494Y	C	+	2	0	FAM188B	30856630	1.000000	0.71417	0.996000	0.52242	0.201000	0.24016	6.307000	0.72815	2.728000	0.93425	0.655000	0.94253	TGC		PASS	0.602	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		4	30	4	30	---	---	---	---
BMPER	168667	broad.mit.edu	37	7	34125511	34125511	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:34125511G>C	ENST00000297161.2	+	14	1926	c.1552G>C	c.(1552-1554)Gat>Cat	p.D518H	BMPER_ENST00000426693.1_Missense_Mutation_p.D518H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	518	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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.D518H(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						CTTCAAGTTTGATGTGGATGA	0.483																																						uc011kap.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1552-1554)GAT>CAT		BMP-binding endothelial regulator precursor							186.0	161.0	169.0					7																	34125511		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.chr7:34125511G>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.1552G>C	7.37:g.34125511G>C	ENSP00000297161:p.Asp518His						p.D518H	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			13	1666	+			518			VWFD.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1552G>C	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407920	0.62399	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.21543	2.0;2.0	6.08	6.08	0.98989	von Willebrand factor, type D domain (1);	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	M	0.70903	2.155	0.80722	D	1	B	0.34181	0.44	B	0.32022	0.139	T	0.04005	-1.0985	10	0.56958	D	0.05	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	518	Q8N8U9	BMPER_HUMAN	H	518	ENSP00000297161:D518H;ENSP00000393950:D518H	ENSP00000297161:D518H	D	+	1	0	BMPER	34092036	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	7.397000	0.79903	2.894000	0.99253	0.655000	0.94253	GAT		PASS	0.483	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		12	107	12	107	---	---	---	---
CDK13	8621	broad.mit.edu	37	7	40102671	40102671	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:40102671C>G	ENST00000181839.4	+	9	3357	c.2752C>G	c.(2752-2754)Cag>Gag	p.Q918E	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.Q918E	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	918	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.Q918E(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TCAAGCAAATCAGGAACTTGC	0.353																																						uc003thh.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)	5						c.(2752-2754)CAG>GAG		cell division cycle 2-like 5 isoform 1							107.0	111.0	110.0					7																	40102671		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40102671C>G	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2752C>G	7.37:g.40102671C>G	ENSP00000181839:p.Gln918Glu					CDK13_uc003thi.3_Missense_Mutation_p.Q918E|CDK13_uc011kbf.1_Missense_Mutation_p.Q304E|CDK13_uc003thj.2_Translation_Start_Site	p.Q918E	NM_003718	NP_003709	Q14004	CDK13_HUMAN			9	3034	+			918			Protein kinase.		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.2752C>G	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	9.188	1.025261	0.19433	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.40756	1.02;1.02	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.48021	0.1477	N	0.11892	0.195	0.58432	D	0.999998	B;D;B	0.61697	0.003;0.99;0.137	B;D;B	0.72982	0.014;0.979;0.18	T	0.44559	-0.9320	8	.	.	.	-10.0045	20.0425	0.97596	0.0:1.0:0.0:0.0	.	304;918;918	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	E	918	ENSP00000181839:Q918E;ENSP00000340557:Q918E	.	Q	+	1	0	CDK13	40069196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.568000	0.67385	2.817000	0.96982	0.563000	0.77884	CAG		PASS	0.353	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		61	82	61	82	---	---	---	---
CDK13	8621	broad.mit.edu	37	7	40134200	40134200	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:40134200C>T	ENST00000181839.4	+	14	4765	c.4160C>T	c.(4159-4161)tCt>tTt	p.S1387F	CDK13_ENST00000340829.5_Missense_Mutation_p.S1327F	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1387					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.S1387F(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TCATCTCATTCTGGTGGTCCA	0.443																																						uc003thh.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)	5						c.(4159-4161)TCT>TTT		cell division cycle 2-like 5 isoform 1							212.0	201.0	205.0					7																	40134200		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40134200C>T	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.4160C>T	7.37:g.40134200C>T	ENSP00000181839:p.Ser1387Phe					CDK13_uc003thi.3_Missense_Mutation_p.S1327F|CDK13_uc003thj.2_Missense_Mutation_p.S438F|CDK13_uc003thk.2_Missense_Mutation_p.S320F	p.S1387F	NM_003718	NP_003709	Q14004	CDK13_HUMAN			14	4442	+			1387					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.4160C>T	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713193	0.48517	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.51574	0.7;0.7	5.54	5.54	0.83059	.	.	.	.	.	T	0.45034	0.1322	L	0.47716	1.5	0.34218	D	0.675108	P;P	0.39624	0.681;0.553	B;B	0.41988	0.372;0.205	T	0.57106	-0.7868	8	.	.	.	-8.2288	12.7781	0.57461	0.0:0.9252:0.0:0.0748	.	1327;1387	Q14004-2;Q14004	.;CDK13_HUMAN	F	1387;1327	ENSP00000181839:S1387F;ENSP00000340557:S1327F	.	S	+	2	0	CDK13	40100725	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.163000	0.50763	2.603000	0.88011	0.655000	0.94253	TCT		PASS	0.443	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		191	260	191	260	---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45688386	45688386	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:45688386G>A	ENST00000297323.7	+	5	1160	c.1138G>A	c.(1138-1140)Gat>Aat	p.D380N	ADCY1_ENST00000432715.1_Missense_Mutation_p.D155N	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	380					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.D380N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CGACATGATTGATACCATCAC	0.567																																						uc003tne.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1138-1140)GAT>AAT		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						99.0	77.0	84.0					7																	45688386		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45688386G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1138G>A	7.37:g.45688386G>A	ENSP00000297323:p.Asp380Asn					ADCY1_uc003tnd.2_Missense_Mutation_p.D155N	p.D380N	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			5	1156	+			380			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.1138G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366573	0.82463	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	T;T	0.81330	-1.48;-1.48	4.34	4.34	0.51931	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.78566	0.4303	L	0.53729	1.69	0.80722	D	1	B;B	0.29909	0.261;0.203	B;B	0.35550	0.116;0.205	T	0.78518	-0.2173	10	0.46703	T	0.11	.	14.3866	0.66949	0.0:0.0:1.0:0.0	.	380;155	Q08828;C9J1J0	ADCY1_HUMAN;.	N	155;380;380	ENSP00000392721:D155N;ENSP00000297323:D380N	ENSP00000297323:D380N	D	+	1	0	ADCY1	45654911	1.000000	0.71417	0.977000	0.42913	0.825000	0.46686	8.874000	0.92363	2.243000	0.73865	0.561000	0.74099	GAT		PASS	0.567	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		4	70	4	70	---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47840425	47840425	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:47840425A>C	ENST00000289672.2	-	54	8065	c.8015T>G	c.(8014-8016)cTc>cGc	p.L2672R	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2672					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.L2672R(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCACATAGAGAGCAGAAATCG	0.552																																						uc003tny.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(8014-8016)CTC>CGC		polycystin-1L1							80.0	79.0	80.0					7																	47840425		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47840425A>C	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.8015T>G	7.37:g.47840425A>C	ENSP00000289672:p.Leu2672Arg					C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron	p.L2672R	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			54	8015	-			2672			Extracellular (Potential).		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.8015T>G	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.744878	0.30865	.	.	ENSG00000158683	ENST00000289672	T	0.22336	1.96	4.57	3.38	0.38709	.	15.567500	0.00841	U	0.001748	T	0.38214	0.1032	L	0.36672	1.1	0.09310	N	0.999999	D	0.67145	0.996	D	0.67382	0.951	T	0.12243	-1.0555	10	0.72032	D	0.01	-6.391	8.0313	0.30467	0.7929:0.2071:0.0:0.0	.	2672	Q8TDX9	PK1L1_HUMAN	R	2672	ENSP00000289672:L2672R	ENSP00000289672:L2672R	L	-	2	0	PKD1L1	47806950	0.060000	0.20803	0.001000	0.08648	0.004000	0.04260	0.395000	0.20850	0.574000	0.29417	0.460000	0.39030	CTC		PASS	0.552	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		23	137	23	137	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55220237	55220237	+	Splice_Site	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:55220237A>G	ENST00000275493.2	+	6	805		c.e6-1		EGFR_ENST00000342916.3_Splice_Site|EGFR_ENST00000420316.2_Splice_Site|EGFR_ENST00000455089.1_Splice_Site|EGFR_ENST00000454757.2_Splice_Site|EGFR_ENST00000344576.2_Splice_Site|EGFR_ENST00000442591.1_Splice_Site	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor						activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.?(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GCTCTTTTTCAGTGACCAAAA	0.547		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		2	Unknown(2)		lung(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.e6-2		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						180.0	193.0	189.0					7																	55220237		2203	4300	6503	SO:0001630	splice_region_variant	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55220237A>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.629-1A>G	7.37:g.55220237A>G		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Splice_Site_p.L210_splice|EGFR_uc003tqi.2_Splice_Site_p.L210_splice|EGFR_uc003tqj.2_Splice_Site_p.L210_splice|EGFR_uc010kzg.1_Splice_Site_p.L165_splice|EGFR_uc011kco.1_Splice_Site_p.L157_splice|EGFR_uc003tql.1_RNA	p.L210_splice	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	875	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)							O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Splice_Site	SNP	ENST00000275493.2	37	c.629_splice	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.359528	0.82353	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0594	0.64790	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EGFR	55187731	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.254000	0.95512	1.981000	0.57761	0.533000	0.62120	.		PASS	0.547	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	Intron	32	754	32	754	---	---	---	---
SUMF2	25870	broad.mit.edu	37	7	56142379	56142379	+	Missense_Mutation	SNP	G	G	C	rs201750305		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:56142379G>C	ENST00000413756.1	+	5	508	c.485G>C	c.(484-486)cGa>cCa	p.R162P	SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000342190.6_Missense_Mutation_p.R181P|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000275607.9_Missense_Mutation_p.R74P|SUMF2_ENST00000434526.2_Missense_Mutation_p.R181P|SUMF2_ENST00000395436.2_Missense_Mutation_p.R166P			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	162					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)	p.R162P(1)|p.R181P(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CGGGGAAAACGACTGCCCACG	0.587											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003trv.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(541-543)CGA>CCA		sulfatase modifying factor 2 isoform e							93.0	95.0	94.0					7																	56142379		2203	4300	6503	SO:0001583	missense	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56142379G>C	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.485G>C	7.37:g.56142379G>C	ENSP00000406445:p.Arg162Pro		OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_Intron|SUMF2_uc011kcw.1_Missense_Mutation_p.R181P|SUMF2_uc011kcx.1_Intron|SUMF2_uc003trt.2_Missense_Mutation_p.R74P|SUMF2_uc011kcy.1_Missense_Mutation_p.R166P|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_Intron|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Intron	p.R181P	NM_001130069	NP_001123541	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	573	+	Breast(14;0.214)		162					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Missense_Mutation	SNP	ENST00000413756.1	37	c.542G>C		.	.	.	.	.	.	.	.	.	.	G	28.1	4.887179	0.91814	.	.	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000275607;ENST00000413952;ENST00000342190;ENST00000413756;ENST00000451338	D;D;D;D;D;D;D	0.97232	-4.3;-4.3;-4.3;-4.3;-4.3;-4.3;-4.3	5.39	5.39	0.77823	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.000000	0.85682	D	0.000000	D	0.99190	0.9719	H	0.98388	4.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.989	D	0.98869	1.0765	10	0.87932	D	0	-19.7147	18.5188	0.90944	0.0:0.0:1.0:0.0	.	166;162;181	A8MXB9;Q8NBJ7;F8WA42	.;SUMF2_HUMAN;.	P	166;181;74;184;181;162;179	ENSP00000378824:R166P;ENSP00000400922:R181P;ENSP00000275607:R74P;ENSP00000414434:R184P;ENSP00000341938:R181P;ENSP00000406445:R162P;ENSP00000410796:R179P	ENSP00000275607:R74P	R	+	2	0	SUMF2	56109873	1.000000	0.71417	0.896000	0.35187	0.836000	0.47400	9.603000	0.98315	2.697000	0.92050	0.591000	0.81541	CGA		PASS	0.587	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411		8	371	8	371	---	---	---	---
ZNF479	90827	broad.mit.edu	37	7	57188291	57188292	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:57188291_57188292GG>TT	ENST00000331162.4	-	5	1100_1101	c.830_831CC>AA	c.(829-831)gCC>gAA	p.A277E		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	277					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.A277A(1)|p.A277D(1)|p.A277E(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGCGCCTAAAGGCTTGGCCACA	0.455																																						uc010kzo.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|skin(1)	4						c.(829-831)GCC>GCA|c.(829-831)GCC>GAC		zinc finger protein 479																																				SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188291G>T|g.chr7:57188292G>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.830_831delinsTT	7.37:g.57188291_57188292delinsTT	ENSP00000333776:p.Ala277Glu						p.A277A|p.A277D	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1102|1101	-			277			C2H2-type 4.			Silent|Missense_Mutation	SNP	ENST00000331162.4	37	c.831C>A|c.830C>A	CCDS43590.1																																																																																				PASS	0.455	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		34	132|129	34	129	---	---	---	---
ZNF107	51427	broad.mit.edu	37	7	64167219	64167219	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:64167219G>A	ENST00000395391.1	+	4	1912	c.537G>A	c.(535-537)aaG>aaA	p.K179K	ZNF107_ENST00000344930.3_Silent_p.K179K|ZNF107_ENST00000423627.1_Silent_p.K179K			Q9UII5	ZN107_HUMAN	zinc finger protein 107	179					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.K179K(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CTAGGCATAAGATAATTCATA	0.373																																						uc003ttd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(535-537)AAG>AAA		zinc finger protein 107							33.0	35.0	35.0					7																	64167219		2201	4295	6496	SO:0001819	synonymous_variant	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64167219G>A	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.537G>A	7.37:g.64167219G>A						ZNF107_uc003tte.2_Silent_p.K179K	p.K179K	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	1323	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	179			C2H2-type 4.			Silent	SNP	ENST00000395391.1	37	c.537G>A	CCDS5527.1																																																																																				PASS	0.373	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		7	128	7	128	---	---	---	---
KCTD7	154881	broad.mit.edu	37	7	66104107	66104107	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:66104107C>T	ENST00000275532.3	+	4	942	c.758C>T	c.(757-759)tCg>tTg	p.S253L	KCTD7_ENST00000443322.1_Missense_Mutation_p.S253L	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	253					cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.S253L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						ACGGACCTCTCGGCCCAGGGT	0.567																																						uc003tve.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(757-759)TCG>TTG		potassium channel tetramerisation domain							136.0	97.0	110.0					7																	66104107		2203	4300	6503	SO:0001583	missense	154881					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr7:66104107C>T	AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"""potassium channel tetramerisation domain containing 7"""			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.758C>T	7.37:g.66104107C>T	ENSP00000275532:p.Ser253Leu					RABGEF1_uc003tvf.2_Intron|KCTD7_uc003tvd.3_Missense_Mutation_p.S253L	p.S253L	NM_153033	NP_694578	Q96MP8	KCTD7_HUMAN			4	920	+			253					A4D2M4|Q8IVR0	Missense_Mutation	SNP	ENST00000275532.3	37	c.758C>T	CCDS5534.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874222	0.51695	.	.	ENSG00000243335	ENST00000275532;ENST00000443322	T;T	0.64438	-0.1;-0.1	5.47	4.58	0.56647	.	.	.	.	.	T	0.51856	0.1699	L	0.40543	1.245	0.80722	D	1	B	0.27679	0.185	B	0.17098	0.017	T	0.46020	-0.9221	9	0.27082	T	0.32	.	15.3418	0.74303	0.0:0.8598:0.1402:0.0	.	253	Q96MP8	KCTD7_HUMAN	L	253	ENSP00000275532:S253L;ENSP00000411624:S253L	ENSP00000275532:S253L	S	+	2	0	KCTD7	65741542	0.997000	0.39634	0.945000	0.38365	0.995000	0.86356	3.581000	0.53914	1.283000	0.44513	0.655000	0.94253	TCG		PASS	0.567	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	NM_153033		20	214	20	214	---	---	---	---
POM121	9883	broad.mit.edu	37	7	72416716	72416716	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:72416716G>C	ENST00000434423.2	+	13	3693	c.3693G>C	c.(3691-3693)aaG>aaC	p.K1231N	POM121_ENST00000446813.1_Intron|POM121_ENST00000358357.3_Missense_Mutation_p.K966N|POM121_ENST00000395270.1_Intron|NSUN5P2_ENST00000388955.4_RNA|POM121_ENST00000257622.4_Missense_Mutation_p.K966N			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1231	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.K966N(1)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CGGGATCCAAGACCCCAGGGG	0.582																																						uc003twj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2896-2898)AAG>AAC		nuclear pore membrane protein 121							51.0	56.0	54.0					7																	72416716		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72416716G>C	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3693G>C	7.37:g.72416716G>C	ENSP00000405562:p.Lys1231Asn					POM121_uc010lam.1_Intron	p.K966N	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			15	3875	+		Lung NSC(55;0.163)	1231			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.2898G>C		.	.	.	.	.	.	.	.	.	.	G	12.50	1.956036	0.34471	.	.	ENSG00000196313	ENST00000257622;ENST00000358357;ENST00000434423	T;T;T	0.21191	2.02;2.02;2.23	3.16	2.26	0.28386	.	.	.	.	.	T	0.36853	0.0982	M	0.80422	2.495	0.36741	D	0.882259	.	.	.	.	.	.	T	0.43686	-0.9376	7	0.87932	D	0	.	7.7528	0.28907	0.1231:0.0:0.8769:0.0	.	.	.	.	N	966;966;1231	ENSP00000257622:K966N;ENSP00000351124:K966N;ENSP00000405562:K1231N	ENSP00000257622:K966N	K	+	3	2	POM121	72054652	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	3.218000	0.51192	0.657000	0.30906	0.391000	0.25812	AAG		PASS	0.582	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			13	87	13	87	---	---	---	---
POM121C	100101267	broad.mit.edu	37	7	75066877	75066877	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:75066877C>G	ENST00000257665.5	-	5	1121	c.1122G>C	c.(1120-1122)ttG>ttC	p.L374F	POM121C_ENST00000453279.2_Missense_Mutation_p.L132F|POM121C_ENST00000473168.1_5'Flank			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	374	Pore side. {ECO:0000255}.|Required for targeting to the nucleus and nuclear pore complex.|Ser-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)		p.L132F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						AAGCGCCTGTCAAGGAGCTCA	0.507																																						uc010lde.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1120-1122)TTG>TTC		Homo sapiens POM121-2 mRNA for nuclear pore membrane protein 121-2, partial cds.							173.0	179.0	177.0					7																	75066877		2203	4300	6503	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75066877C>G		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.1122G>C	7.37:g.75066877C>G	ENSP00000257665:p.Leu374Phe					POM121C_uc003udk.3_Missense_Mutation_p.L132F	p.L374F			A8CG34	P121C_HUMAN			5	1122	-			374			Required for targeting to the nucleus and nuclear pore complex.|Pore side (Potential).|Ser-rich.		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.1122G>C		.	.	.	.	.	.	.	.	.	.	C	4.967	0.179550	0.09443	.	.	ENSG00000135213	ENST00000257665;ENST00000453279;ENST00000439629	T;T;T	0.13657	2.57;2.57;2.57	4.17	4.17	0.49024	.	0.000000	0.33327	N	0.005039	T	0.20292	0.0488	M	0.80422	2.495	0.09310	N	0.999998	P	0.40578	0.722	B	0.39805	0.31	T	0.19289	-1.0310	10	0.66056	D	0.02	.	10.7578	0.46247	0.0:0.789:0.211:0.0	.	374	A8CG34	P121C_HUMAN	F	374;132;4	ENSP00000257665:L374F;ENSP00000414208:L132F;ENSP00000410033:L4F	ENSP00000257665:L374F	L	-	3	2	POM121C	74904813	1.000000	0.71417	0.558000	0.28319	0.085000	0.17905	1.477000	0.35431	2.050000	0.60909	0.505000	0.49811	TTG		PASS	0.507	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		67	471	67	471	---	---	---	---
POR	5447	broad.mit.edu	37	7	75608797	75608797	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:75608797C>G	ENST00000461988.1	+	4	371	c.266C>G	c.(265-267)tCc>tGc	p.S89C	POR_ENST00000475509.1_3'UTR|POR_ENST00000450476.1_5'Flank|POR_ENST00000419840.1_5'UTR|POR_ENST00000394893.1_Missense_Mutation_p.S89C|POR_ENST00000439269.1_5'Flank|POR_ENST00000545601.1_5'Flank	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	86	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)	p.S86C(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	TTCTACGGCTCCCAGACGGGG	0.627																																						uc003udy.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(265-267)TCC>TGC		cytochrome P450 reductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)						42.0	50.0	48.0					7																	75608797		2091	4212	6303	SO:0001583	missense	5447				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity	g.chr7:75608797C>G	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.266C>G	7.37:g.75608797C>G	ENSP00000419970:p.Ser89Cys					POR_uc011kgb.1_RNA|POR_uc011kgc.1_5'Flank|POR_uc011kgd.1_5'Flank|POR_uc011kge.1_5'Flank	p.S89C	NM_000941	NP_000932	P16435	NCPR_HUMAN			4	348	+			86			Flavodoxin-like.		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	c.266C>G	CCDS5579.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573346	0.86542	.	.	ENSG00000127948	ENST00000453773;ENST00000439963;ENST00000461988;ENST00000394893;ENST00000412521;ENST00000414186;ENST00000432753;ENST00000426184	D;D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	3.78	3.78	0.43462	.	0.000000	0.85682	D	0.000000	D	0.95053	0.8398	H	0.99555	4.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97187	0.9855	10	0.87932	D	0	-35.5649	15.1594	0.72771	0.0:1.0:0.0:0.0	.	95	Q59ED7	.	C	89;89;89;89;89;89;89;42	ENSP00000395813:S89C;ENSP00000390540:S89C;ENSP00000419970:S89C;ENSP00000378355:S89C;ENSP00000409238:S89C;ENSP00000399327:S89C;ENSP00000389409:S89C;ENSP00000400964:S42C	ENSP00000378355:S89C	S	+	2	0	POR	75446733	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.209000	0.77916	2.118000	0.64928	0.655000	0.94253	TCC		PASS	0.627	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		11	24	11	24	---	---	---	---
CCDC146	57639	broad.mit.edu	37	7	76871150	76871150	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:76871150C>G	ENST00000285871.4	+	4	509	c.382C>G	c.(382-384)Ctc>Gtc	p.L128V	CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	128								p.L128V(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGAACAACTTCTCAAGTATCA	0.398																																						uc003uga.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(382-384)CTC>GTC		coiled-coil domain containing 146							105.0	104.0	104.0					7																	76871150		2203	4300	6503	SO:0001583	missense	57639							g.chr7:76871150C>G	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.382C>G	7.37:g.76871150C>G	ENSP00000285871:p.Leu128Val						p.L128V	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN			4	509	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	128			Potential.		A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.382C>G	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083945	0.76642	.	.	ENSG00000135205	ENST00000415750;ENST00000285871	D;D	0.92199	-2.99;-2.99	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.96009	0.8700	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.94831	0.7996	10	0.37606	T	0.19	-8.0356	19.4155	0.94694	0.0:1.0:0.0:0.0	.	128	Q8IYE0	CC146_HUMAN	V	128	ENSP00000388649:L128V;ENSP00000285871:L128V	ENSP00000285871:L128V	L	+	1	0	AC007000.1	76709086	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	5.294000	0.65687	2.670000	0.90874	0.585000	0.79938	CTC		PASS	0.398	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		20	235	20	235	---	---	---	---
RSBN1L	222194	broad.mit.edu	37	7	77408043	77408043	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:77408043C>T	ENST00000334955.8	+	8	2126	c.2099C>T	c.(2098-2100)tCt>tTt	p.S700F	RSBN1L_ENST00000445288.1_Missense_Mutation_p.S430F	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	700						nucleus (GO:0005634)		p.S700F(1)		central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGGACACTTCTCAGAATACA	0.418																																						uc010ldt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2098-2100)TCT>TTT		round spermatid basic protein 1-like							147.0	139.0	142.0					7																	77408043		1995	4179	6174	SO:0001583	missense	222194					nucleus		g.chr7:77408043C>T	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.2099C>T	7.37:g.77408043C>T	ENSP00000334040:p.Ser700Phe					RSBN1L_uc003ugm.2_Missense_Mutation_p.S482F	p.S700F	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN			8	2143	+			700					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	c.2099C>T	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471726	0.43942	.	.	ENSG00000187257	ENST00000334955;ENST00000445288	.	.	.	5.84	3.03	0.35002	.	0.505719	0.23440	N	0.048143	T	0.47097	0.1427	L	0.55481	1.735	0.27453	N	0.953386	D	0.57571	0.98	P	0.53649	0.731	T	0.40175	-0.9577	9	0.66056	D	0.02	-0.7483	8.3081	0.32055	0.0:0.7246:0.1333:0.1421	.	700	Q6PCB5	RSBNL_HUMAN	F	700;430	.	ENSP00000334040:S700F	S	+	2	0	RSBN1L	77245979	0.800000	0.28916	0.024000	0.17045	0.884000	0.51177	1.036000	0.30228	0.369000	0.24510	0.591000	0.81541	TCT		PASS	0.418	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		13	427	13	427	---	---	---	---
CD36	948	broad.mit.edu	37	7	80300319	80300319	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:80300319A>C	ENST00000435819.1	+	13	1529	c.845A>C	c.(844-846)gAc>gCc	p.D282A	CD36_ENST00000534394.1_Missense_Mutation_p.D206A|CD36_ENST00000433696.2_Missense_Mutation_p.D243A|CD36_ENST00000544133.1_Intron|CD36_ENST00000538969.1_Missense_Mutation_p.D222A|CD36_ENST00000309881.7_Missense_Mutation_p.D282A|CD36_ENST00000394788.3_Missense_Mutation_p.D282A|CD36_ENST00000447544.2_Missense_Mutation_p.D282A|CD36_ENST00000432207.1_Missense_Mutation_p.D282A			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	282					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)	p.D282A(4)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TTTGAATCCGACGTTAATCTG	0.383																																						uc003uhc.2																			4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(844-846)GAC>GCC		CD36 antigen							180.0	184.0	183.0					7																	80300319		2203	4300	6503	SO:0001583	missense	948				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	g.chr7:80300319A>C	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.845A>C	7.37:g.80300319A>C	ENSP00000399421:p.Asp282Ala					CD36_uc003uhd.3_Missense_Mutation_p.D282A|CD36_uc011kgv.1_Missense_Mutation_p.D206A|CD36_uc003uhe.3_Missense_Mutation_p.D282A|CD36_uc003uhf.3_Missense_Mutation_p.D282A|CD36_uc003uhg.3_Missense_Mutation_p.D282A|CD36_uc003uhh.3_Missense_Mutation_p.D282A	p.D282A	NM_001127444	NP_001120916	P16671	CD36_HUMAN			13	1529	+			282			Extracellular (Potential).		D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	ENST00000435819.1	37	c.845A>C	CCDS34673.1	.	.	.	.	.	.	.	.	.	.	A	11.04	1.522113	0.27211	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000394788;ENST00000447544;ENST00000432207;ENST00000419819;ENST00000538969;ENST00000433696	T;T;T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.85	5.85	0.93711	.	0.618350	0.18410	N	0.142071	T	0.63570	0.2522	L	0.41710	1.295	0.30312	N	0.788478	B	0.18610	0.029	B	0.18263	0.021	T	0.58612	-0.7606	9	.	.	.	-12.7689	15.9099	0.79463	1.0:0.0:0.0:0.0	.	282	P16671	CD36_HUMAN	A	282;282;206;282;282;282;282;222;243	ENSP00000399421:D282A;ENSP00000308165:D282A;ENSP00000431296:D206A;ENSP00000378268:D282A;ENSP00000415743:D282A;ENSP00000411411:D282A;ENSP00000392298:D282A;ENSP00000439543:D222A;ENSP00000401863:D243A	.	D	+	2	0	CD36	80138255	0.940000	0.31905	0.030000	0.17652	0.887000	0.51463	2.415000	0.44635	2.238000	0.73509	0.477000	0.44152	GAC		PASS	0.383	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		227	344	227	344	---	---	---	---
SEMA3C	10512	broad.mit.edu	37	7	80387646	80387646	+	Splice_Site	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:80387646C>T	ENST00000265361.3	-	15	2205		c.e15+1		SEMA3C_ENST00000419255.2_Splice_Site|SEMA3C_ENST00000544525.1_Splice_Site	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C						axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.?(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTAGTGCTCACCGTTTCCCAG	0.473																																						uc003uhj.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e15+1		semaphorin 3C precursor							127.0	119.0	121.0					7																	80387646		2203	4300	6503	SO:0001630	splice_region_variant	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80387646C>T	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1643+1G>A	7.37:g.80387646C>T						SEMA3C_uc011kgw.1_Splice_Site_p.R566_splice	p.R548_splice	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			15	2205	-								B4DRL8	Splice_Site	SNP	ENST00000265361.3	37	c.1643_splice	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080884	0.76528	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.115	0.93334	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEMA3C	80225582	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.776000	0.85560	2.580000	0.87095	0.467000	0.42956	.		PASS	0.473	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379	Intron	15	221	15	221	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82453631	82453631	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:82453631G>A	ENST00000333891.9	-	19	14854	c.14517C>T	c.(14515-14517)tcC>tcT	p.S4839S	PCLO_ENST00000423517.2_Silent_p.S4839S|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S4839S(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCTCTGACTGGAATGAGACT	0.423																																						uc003uhx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)	7						c.(14515-14517)TCC>TCT		piccolo isoform 1							101.0	100.0	100.0					7																	82453631		2003	4188	6191	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82453631G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.14517C>T	7.37:g.82453631G>A						PCLO_uc003uhv.2_Silent_p.S4839S|PCLO_uc003uht.1_Silent_p.S281S|PCLO_uc003uhu.1_Silent_p.S260S	p.S4839S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			19	14806	-			4701			Ser-rich.			Silent	SNP	ENST00000333891.9	37	c.14517C>T	CCDS47630.1																																																																																				PASS	0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		12	65	12	65	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82580618	82580618	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:82580618G>C	ENST00000333891.9	-	6	9623	c.9286C>G	c.(9286-9288)Cca>Gca	p.P3096A	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.P3096A	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.P3096A(2)|p.P3027A(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGGGTGTTGGAGTTGCTACT	0.473																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(9286-9288)CCA>GCA		piccolo isoform 1							104.0	104.0	104.0					7																	82580618		2009	4181	6190	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82580618G>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9286C>G	7.37:g.82580618G>C	ENSP00000334319:p.Pro3096Ala					PCLO_uc003uhv.2_Missense_Mutation_p.P3096A|PCLO_uc010lec.2_Missense_Mutation_p.P61A	p.P3096A	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	9575	-			3027						Missense_Mutation	SNP	ENST00000333891.9	37	c.9286C>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	9.031	0.987247	0.18889	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.55930	0.49;0.53	5.37	5.37	0.77165	.	.	.	.	.	T	0.72407	0.3456	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.75059	-0.3451	9	0.87932	D	0	.	18.705	0.91633	0.0:0.0:1.0:0.0	.	3027;3096;3096	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	A	3027;3096;3096	ENSP00000334319:P3096A;ENSP00000388393:P3096A	ENSP00000334319:P3096A	P	-	1	0	PCLO	82418554	1.000000	0.71417	0.995000	0.50966	0.684000	0.39900	9.789000	0.99068	2.524000	0.85096	0.563000	0.77884	CCA		PASS	0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		3	47	3	47	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82785233	82785233	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:82785233G>C	ENST00000333891.9	-	2	1061	c.724C>G	c.(724-726)Caa>Gaa	p.Q242E	PCLO_ENST00000423517.2_Missense_Mutation_p.Q242E	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.Q242E(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTGGTTGTTGAGAAGATATT	0.478																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(724-726)CAA>GAA		piccolo isoform 1							109.0	96.0	100.0					7																	82785233		1921	4150	6071	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82785233G>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.724C>G	7.37:g.82785233G>C	ENSP00000334319:p.Gln242Glu					PCLO_uc003uhv.2_Missense_Mutation_p.Q242E	p.Q242E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	1013	-			242			Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.724C>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855129	0.51376	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.28255	1.62;1.64	5.63	5.63	0.86233	.	.	.	.	.	T	0.52175	0.1718	L	0.52573	1.65	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.51012	-0.8759	9	0.87932	D	0	.	18.4651	0.90752	0.0:0.0:1.0:0.0	.	242;242	Q9Y6V0-5;Q9Y6V0-6	.;.	E	242	ENSP00000334319:Q242E;ENSP00000388393:Q242E	ENSP00000334319:Q242E	Q	-	1	0	PCLO	82623169	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	6.286000	0.72665	2.665000	0.90641	0.655000	0.94253	CAA		PASS	0.478	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		3	115	3	115	---	---	---	---
KIAA1324L	222223	broad.mit.edu	37	7	86539300	86539300	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:86539300G>A	ENST00000450689.2	-	16	2372	c.2187C>T	c.(2185-2187)ctC>ctT	p.L729L	KIAA1324L_ENST00000416314.1_Silent_p.L562L|KIAA1324L_ENST00000297222.6_Silent_p.L489L|KIAA1324L_ENST00000444627.1_Silent_p.L658L	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	729			L -> V (in dbSNP:rs34412146).			integral component of membrane (GO:0016021)		p.L729L(1)|p.L489L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TGTTGGTACAGAGAGCCATCT	0.363																																						uc011kha.1																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(1)	7						c.(2185-2187)CTC>CTT		hypothetical protein LOC222223 isoform 1							79.0	79.0	79.0					7																	86539300		2203	4299	6502	SO:0001819	synonymous_variant	222223					integral to membrane		g.chr7:86539300G>A	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2187C>T	7.37:g.86539300G>A						KIAA1324L_uc003uif.1_Silent_p.L489L|KIAA1324L_uc011kgz.1_Silent_p.L615L|KIAA1324L_uc003uie.2_Silent_p.L562L	p.L729L	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN			16	2372	-	Esophageal squamous(14;0.0058)		729			Extracellular (Potential).		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Silent	SNP	ENST00000450689.2	37	c.2187C>T	CCDS47632.1																																																																																				PASS	0.363	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		9	140	9	140	---	---	---	---
CROT	54677	broad.mit.edu	37	7	86990850	86990850	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:86990850C>T	ENST00000331536.3	+	5	570	c.385C>T	c.(385-387)Ctt>Ttt	p.L129F	CROT_ENST00000442291.1_Missense_Mutation_p.L129F|CROT_ENST00000419147.2_Missense_Mutation_p.L157F	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	129					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.L129F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AAGTATAACTCTTTGGCATAA	0.413																																						uc003uit.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(385-387)CTT>TTT		peroxisomal carnitine O-octanoyltransferase	L-Carnitine(DB00583)						89.0	86.0	87.0					7																	86990850		2203	4300	6503	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:86990850C>T		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.385C>T	7.37:g.86990850C>T	ENSP00000331981:p.Leu129Phe					CROT_uc003uiu.2_Missense_Mutation_p.L157F	p.L129F	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN			5	630	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		129					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.385C>T	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216813	0.58452	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.90444	-2.67;-2.67;-2.67	5.86	5.86	0.93980	.	0.297857	0.36268	N	0.002695	D	0.95089	0.8409	M	0.86420	2.815	0.37379	D	0.911971	D;D	0.67145	0.992;0.996	D;D	0.71414	0.973;0.956	D	0.96263	0.9192	10	0.87932	D	0	-25.3894	10.1902	0.43021	0.144:0.6218:0.2342:0.0	.	157;129	E7EQF2;Q9UKG9	.;OCTC_HUMAN	F	157;129;129	ENSP00000413575:L157F;ENSP00000331981:L129F;ENSP00000411983:L129F	ENSP00000331981:L129F	L	+	1	0	CROT	86828786	0.738000	0.28186	0.967000	0.41034	0.979000	0.70002	1.224000	0.32539	2.776000	0.95493	0.655000	0.94253	CTT		PASS	0.413	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		11	203	11	203	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87174204	87174204	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:87174204A>T	ENST00000265724.3	-	17	2416	c.1999T>A	c.(1999-2001)Tca>Aca	p.S667T	ABCB1_ENST00000543898.1_Missense_Mutation_p.S603T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	667					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.S667T(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CTACGAGTTGATCTTTTTCTT	0.393																																						uc003uiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1999-2001)TCA>ACA		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						143.0	130.0	135.0					7																	87174204		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87174204A>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1999T>A	7.37:g.87174204A>T	ENSP00000265724:p.Ser667Thr					ABCB1_uc011khc.1_Missense_Mutation_p.S603T	p.S667T	NM_000927	NP_000918	P08183	MDR1_HUMAN			17	2417	-	Esophageal squamous(14;0.00164)		667			Cytoplasmic (Potential).		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.1999T>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.767610	0.49574	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.88124	-2.34;-2.32	5.75	5.75	0.90469	.	8.119930	0.00166	N	0.000000	D	0.92642	0.7662	L	0.51914	1.62	0.58432	D	0.999995	B;D	0.69078	0.004;0.997	B;D	0.69654	0.005;0.965	T	0.79057	-0.1959	10	0.29301	T	0.29	-11.0289	14.6208	0.68582	1.0:0.0:0.0:0.0	.	603;667	B5AK60;P08183	.;MDR1_HUMAN	T	448;667;603	ENSP00000265724:S667T;ENSP00000444095:S603T	ENSP00000265724:S667T	S	-	1	0	ABCB1	87012140	1.000000	0.71417	0.993000	0.49108	0.545000	0.35147	3.843000	0.55865	2.205000	0.71048	0.528000	0.53228	TCA		PASS	0.393	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		7	290	7	290	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87190643	87190643	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:87190643C>G	ENST00000265724.3	-	9	1180	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q	ABCB1_ENST00000543898.1_Missense_Mutation_p.E191Q	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	255	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.E255Q(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AAGACCTCTTCAGCTACTGCT	0.328																																						uc003uiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(763-765)GAA>CAA		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						75.0	75.0	75.0					7																	87190643		2203	4299	6502	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87190643C>G	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.763G>C	7.37:g.87190643C>G	ENSP00000265724:p.Glu255Gln					ABCB1_uc011khc.1_Missense_Mutation_p.E191Q	p.E255Q	NM_000927	NP_000918	P08183	MDR1_HUMAN			9	1181	-	Esophageal squamous(14;0.00164)		255			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.763G>C	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395736	0.83011	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.91180	-2.8;-2.8	5.74	5.74	0.90152	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.097141	0.64402	D	0.000002	D	0.95878	0.8658	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.97110	0.495;1.0	D	0.95641	0.8698	10	0.62326	D	0.03	-31.6155	19.9145	0.97053	0.0:1.0:0.0:0.0	.	191;255	B5AK60;P08183	.;MDR1_HUMAN	Q	36;255;191	ENSP00000265724:E255Q;ENSP00000444095:E191Q	ENSP00000265724:E255Q	E	-	1	0	ABCB1	87028579	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.531000	0.67148	2.709000	0.92574	0.655000	0.94253	GAA		PASS	0.328	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		19	88	19	88	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87195509	87195509	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:87195509G>C	ENST00000265724.3	-	8	996	c.579C>G	c.(577-579)ttC>ttG	p.F193L	ABCB1_ENST00000543898.1_Missense_Mutation_p.F129L	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	193	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.F193L(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TTGACTGAAAGAACATTCCAA	0.368																																						uc003uiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(577-579)TTC>TTG		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						153.0	141.0	145.0					7																	87195509		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87195509G>C	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.579C>G	7.37:g.87195509G>C	ENSP00000265724:p.Phe193Leu					ABCB1_uc011khc.1_Missense_Mutation_p.F129L	p.F193L	NM_000927	NP_000918	P08183	MDR1_HUMAN			8	997	-	Esophageal squamous(14;0.00164)		193			Helical; (Potential).|ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.579C>G	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580206	0.28180	.	.	ENSG00000085563	ENST00000265724;ENST00000543898	D;D	0.89810	-2.57;-2.57	5.86	2.99	0.34606	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.357878	0.33457	N	0.004900	T	0.80199	0.4579	L	0.33710	1.025	0.45172	D	0.998186	B;B	0.17852	0.024;0.005	B;B	0.22386	0.039;0.022	T	0.67499	-0.5655	10	0.29301	T	0.29	-5.7663	5.195	0.15232	0.0692:0.1194:0.4423:0.369	.	129;193	B5AK60;P08183	.;MDR1_HUMAN	L	193;129	ENSP00000265724:F193L;ENSP00000444095:F129L	ENSP00000265724:F193L	F	-	3	2	ABCB1	87033445	0.833000	0.29383	0.999000	0.59377	0.978000	0.69477	0.079000	0.14782	0.341000	0.23771	-0.165000	0.13383	TTC		PASS	0.368	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		41	162	41	162	---	---	---	---
SLC25A40	55972	broad.mit.edu	37	7	87470972	87470972	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:87470972G>C	ENST00000341119.5	-	10	1145	c.799C>G	c.(799-801)Ctt>Gtt	p.L267V		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	267					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.L267V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TATGTCCAAAGTTGTGTCTGC	0.264																																						uc003uje.2																			1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(799-801)CTT>GTT		mitochondrial carrier family protein							39.0	36.0	37.0					7																	87470972		2184	4250	6434	SO:0001583	missense	55972				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr7:87470972G>C	AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.799C>G	7.37:g.87470972G>C	ENSP00000344831:p.Leu267Val						p.L267V	NM_018843	NP_061331	Q8TBP6	S2540_HUMAN			10	1150	-	Esophageal squamous(14;0.00202)		267			Solcar 3.		A8K483|D6W5P6|Q53GB1|Q9UHR1	Missense_Mutation	SNP	ENST00000341119.5	37	c.799C>G	CCDS5610.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624189	0.46840	.	.	ENSG00000075303	ENST00000341119	T	0.78126	-1.15	5.73	5.73	0.89815	Mitochondrial carrier domain (2);	0.129986	0.53938	D	0.000050	T	0.71533	0.3351	L	0.33189	0.99	0.32544	N	0.533268	B	0.24576	0.106	B	0.34931	0.192	T	0.71251	-0.4648	10	0.21540	T	0.41	.	15.0271	0.71677	0.0:0.142:0.858:0.0	.	267	Q8TBP6	S2540_HUMAN	V	267	ENSP00000344831:L267V	ENSP00000344831:L267V	L	-	1	0	SLC25A40	87308908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.547000	0.53663	2.704000	0.92352	0.585000	0.79938	CTT		PASS	0.264	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5	NM_018843		6	29	6	29	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88963232	88963232	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:88963232G>C	ENST00000333190.4	+	4	1545	c.936G>C	c.(934-936)gaG>gaC	p.E312D		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	312							metal ion binding (GO:0046872)	p.E312D(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTATTGATGAGACACTAGAAG	0.343										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(934-936)GAG>GAC		zinc finger protein 804B							47.0	48.0	48.0					7																	88963232		2203	4298	6501	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963232G>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.936G>C	7.37:g.88963232G>C	ENSP00000329638:p.Glu312Asp	HNSCC(36;0.09)					p.E312D	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1474	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		312					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.936G>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	0.595	-0.831363	0.02713	.	.	ENSG00000182348	ENST00000333190	T	0.05382	3.45	5.14	1.99	0.26369	.	0.744576	0.12339	N	0.477642	T	0.06416	0.0165	L	0.44542	1.39	0.09310	N	1	P	0.38922	0.651	B	0.35859	0.212	T	0.30650	-0.9971	10	0.44086	T	0.13	-3.6751	9.0122	0.36148	0.6317:0.0:0.3683:0.0	.	312	A4D1E1	Z804B_HUMAN	D	312	ENSP00000329638:E312D	ENSP00000329638:E312D	E	+	3	2	ZNF804B	88801168	0.962000	0.33011	0.359000	0.25824	0.048000	0.14542	0.994000	0.29693	0.192000	0.20272	-0.982000	0.02568	GAG		PASS	0.343	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		10	116	10	116	---	---	---	---
CLDN12	9069	broad.mit.edu	37	7	90042442	90042442	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:90042442C>G	ENST00000287916.4	+	3	739	c.452C>G	c.(451-453)tCt>tGt	p.S151C	CLDN12_ENST00000535571.1_Missense_Mutation_p.S151C|CTB-13L3.1_ENST00000480135.1_RNA|CLDN12_ENST00000394605.2_Missense_Mutation_p.S151C	NM_001185073.2|NM_012129.4	NP_001172002.1|NP_036261.1	P56749	CLD12_HUMAN	claudin 12	151					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.S151C(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						CTCTCCCCATCTATCTGGGTC	0.483																																						uc003ukp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(451-453)TCT>TGT		claudin 12							165.0	156.0	159.0					7																	90042442		2203	4300	6503	SO:0001583	missense	9069				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:90042442C>G	AJ250713	CCDS5618.1	7q21	2008-07-18			ENSG00000157224	ENSG00000157224		"""Claudins"""	2034	protein-coding gene	gene with protein product		611232					Standard	NM_001185072		Approved		uc003ukr.3	P56749	OTTHUMG00000156612	ENST00000287916.4:c.452C>G	7.37:g.90042442C>G	ENSP00000287916:p.Ser151Cys					CLDN12_uc003ukq.2_Missense_Mutation_p.S151C|CLDN12_uc010leq.2_Missense_Mutation_p.S151C|CLDN12_uc003ukr.2_Missense_Mutation_p.S151C|CLDN12_uc003uks.2_Missense_Mutation_p.S151C	p.S151C	NM_012129	NP_036261	P56749	CLD12_HUMAN			5	1088	+			151			Helical; (Potential).		D6W5Q4|Q7LDZ0	Missense_Mutation	SNP	ENST00000287916.4	37	c.452C>G	CCDS5618.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117405	0.56505	.	.	ENSG00000157224	ENST00000422604;ENST00000416322;ENST00000496677;ENST00000287916;ENST00000535571;ENST00000394604;ENST00000394605	T;T;T;T;T;T	0.74842	-0.68;-0.88;-0.88;-0.88;-0.65;-0.88	5.45	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	L	0.29908	0.895	0.80722	D	1	B	0.23735	0.09	B	0.23419	0.046	T	0.65627	-0.6122	10	0.72032	D	0.01	-19.0732	16.4858	0.84183	0.0:0.869:0.131:0.0	.	151	P56749	CLD12_HUMAN	C	151	ENSP00000411399:S151C;ENSP00000419053:S151C;ENSP00000287916:S151C;ENSP00000443476:S151C;ENSP00000378102:S151C;ENSP00000378103:S151C	ENSP00000287916:S151C	S	+	2	0	CLDN12	89880378	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	5.501000	0.66950	1.527000	0.49086	-0.165000	0.13383	TCT		PASS	0.483	CLDN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059221.1	NM_012129		21	383	21	383	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91736685	91736685	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:91736685G>T	ENST00000359028.2	+	48	11732	c.11507G>T	c.(11506-11508)cGc>cTc	p.R3836L	AKAP9_ENST00000358100.2_Missense_Mutation_p.R3782L|AKAP9_ENST00000356239.3_Missense_Mutation_p.R3832L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3836					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.R3832L(1)|p.R3836L(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACTACGTATCGCTCAAGATCA	0.363			T	BRAF	papillary thyroid																																	uc003ulg.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(11494-11496)CGC>CTC		A-kinase anchor protein 9 isoform 2							141.0	136.0	138.0					7																	91736685		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91736685G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11507G>T	7.37:g.91736685G>T	ENSP00000351922:p.Arg3836Leu					AKAP9_uc003ulf.2_Missense_Mutation_p.R3824L|AKAP9_uc003uli.2_Missense_Mutation_p.R3455L|AKAP9_uc003ulj.2_Missense_Mutation_p.R1602L|AKAP9_uc003ull.2_Missense_Mutation_p.R728L	p.R3832L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		48	11720	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3836					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.11495G>T		.	.	.	.	.	.	.	.	.	.	G	18.63	3.665511	0.67700	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03745	3.9;3.9;3.97;3.82	5.41	5.41	0.78517	.	0.000000	0.37906	N	0.001899	T	0.15478	0.0373	L	0.50333	1.59	0.58432	D	0.999993	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.999	T	0.00068	-1.2141	10	0.59425	D	0.04	.	19.3887	0.94570	0.0:0.0:1.0:0.0	.	1107;3836;3836;3832;3824	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	L	3832;3836;3782;3836;1678	ENSP00000348573:R3832L;ENSP00000351922:R3836L;ENSP00000350813:R3782L;ENSP00000378042:R1678L	ENSP00000348573:R3832L	R	+	2	0	AKAP9	91574621	1.000000	0.71417	0.942000	0.38095	0.835000	0.47333	6.492000	0.73654	2.826000	0.97356	0.655000	0.94253	CGC		PASS	0.363	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		5	249	5	249	---	---	---	---
CYP51A1	1595	broad.mit.edu	37	7	91755662	91755662	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:91755662G>C	ENST00000003100.8	-	5	840	c.675C>G	c.(673-675)ctC>ctG	p.L225L	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Silent_p.L120L	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	219					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)	p.L225L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	CCTTTTCATTGAGTTGACTTC	0.423																																					GBM(70;1100 1190 11592 25836 51397)	uc003ulm.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(673-675)CTC>CTG		cytochrome P450, family 51, subfamily A,	Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)						51.0	45.0	47.0					7																	91755662		2203	4300	6503	SO:0001819	synonymous_variant	1595				cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity	g.chr7:91755662G>C	U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"""Cytochrome P450s"""	2649	protein-coding gene	gene with protein product		601637	"""cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"""	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.675C>G	7.37:g.91755662G>C						CYP51A1_uc011khn.1_Silent_p.L120L|CYP51A1_uc003uln.3_Silent_p.L162L	p.L225L	NM_000786	NP_000777	Q16850	CP51A_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		5	837	-	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		219					A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Silent	SNP	ENST00000003100.8	37	c.675C>G	CCDS5623.1																																																																																				PASS	0.423	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4			27	62	27	62	---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92764686	92764686	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:92764686T>A	ENST00000318238.4	-	5	1815	c.599A>T	c.(598-600)aAa>aTa	p.K200I	SAMD9L_ENST00000411955.1_Missense_Mutation_p.K200I|SAMD9L_ENST00000437805.1_Missense_Mutation_p.K200I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	200					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.K200I(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGTGAGAGCTTTGAACTCATG	0.413																																						uc003umh.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(598-600)AAA>ATA		sterile alpha motif domain containing 9-like							166.0	160.0	162.0					7																	92764686		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92764686T>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.599A>T	7.37:g.92764686T>A	ENSP00000326247:p.Lys200Ile					SAMD9L_uc003umj.1_Missense_Mutation_p.K200I|SAMD9L_uc003umi.1_Missense_Mutation_p.K200I|SAMD9L_uc010lfb.1_Missense_Mutation_p.K200I|SAMD9L_uc003umk.1_Missense_Mutation_p.K200I|SAMD9L_uc010lfc.1_Missense_Mutation_p.K200I|SAMD9L_uc010lfd.1_Missense_Mutation_p.K200I|SAMD9L_uc011khx.1_Intron	p.K200I	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	1815	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		200					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.599A>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.422942	0.62733	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.15139	2.45;2.45;2.45	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	M	0.66939	2.045	0.42398	D	0.99255	D	0.76494	0.999	D	0.72982	0.979	T	0.31641	-0.9936	10	0.87932	D	0	-24.0202	14.425	0.67210	0.0:0.0:0.0:1.0	.	200	Q8IVG5	SAM9L_HUMAN	I	200	ENSP00000326247:K200I;ENSP00000405760:K200I;ENSP00000408796:K200I	ENSP00000326247:K200I	K	-	2	0	SAMD9L	92602622	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	5.986000	0.70563	2.078000	0.62432	0.377000	0.23210	AAA		PASS	0.413	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		112	261	112	261	---	---	---	---
NPTX2	4885	broad.mit.edu	37	7	98254457	98254457	+	Silent	SNP	C	C	T	rs369073829	byFrequency	TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:98254457C>T	ENST00000265634.3	+	3	1032	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	289	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.I289I(2)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACAACCCCATCGAGCTGCTCA	0.662													C|||	2	0.000399361	0.0008	0.0	5008	,	,		14279	0.0		0.001	False		,,,				2504	0.0					uc003upl.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	central_nervous_system(2)|skin(1)	3						c.(865-867)ATC>ATT		neuronal pentraxin II precursor		C		1,4405	2.1+/-5.4	0,1,2202	72.0	60.0	64.0		867	-5.3	0.9	7		64	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	NPTX2	NM_002523.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		289/432	98254457	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254457C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.867C>T	7.37:g.98254457C>T							p.I289I	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	1044	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		289			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.867C>T	CCDS5657.1																																																																																				PASS	0.662	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		12	103	12	103	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98554094	98554094	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:98554094C>A	ENST00000359863.4	+	42	6357	c.6148C>A	c.(6148-6150)Ctg>Atg	p.L2050M	TRRAP_ENST00000355540.3_Missense_Mutation_p.L2032M|TRRAP_ENST00000446306.3_Missense_Mutation_p.L2031M	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2050	Interaction with TP53.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.L2050M(1)|p.L2032M(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TAAGAGAGGCCTGTCCGTGGA	0.502																																						uc003upp.2																			2	Substitution - Missense(2)		lung(2)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(6148-6150)CTG>ATG		transformation/transcription domain-associated							106.0	101.0	103.0					7																	98554094		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98554094C>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.6148C>A	7.37:g.98554094C>A	ENSP00000352925:p.Leu2050Met					TRRAP_uc011kis.1_Missense_Mutation_p.L2032M|TRRAP_uc003upr.2_Missense_Mutation_p.L1749M	p.L2050M	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		42	6357	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2050			Interaction with TP53.|Bipartite nuclear localization signal (Potential).		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.6148C>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.469438	0.26423	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03152	4.03;4.03	5.69	3.88	0.44766	.	0.000000	0.64402	D	0.000001	T	0.02455	0.0075	N	0.11201	0.11	0.53005	D	0.99996	B;B;B	0.13145	0.007;0.001;0.007	B;B;B	0.09377	0.004;0.003;0.003	T	0.53954	-0.8365	10	0.27785	T	0.31	.	11.3385	0.49518	0.0:0.7964:0.0:0.2036	.	2032;1771;2050	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	M	2050;2032;2030	ENSP00000352925:L2050M;ENSP00000347733:L2032M	ENSP00000347733:L2032M	L	+	1	2	TRRAP	98392030	0.223000	0.23663	1.000000	0.80357	0.929000	0.56500	0.645000	0.24782	0.747000	0.32809	0.655000	0.94253	CTG		PASS	0.502	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		4	231	4	231	---	---	---	---
CYP3A5	1577	broad.mit.edu	37	7	99250244	99250244	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:99250244C>T	ENST00000222982.4	-	11	1284	c.1185G>A	c.(1183-1185)gtG>gtA	p.V395V	CYP3A5_ENST00000343703.5_Silent_p.V385V|CYP3A5_ENST00000339843.2_3'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	395					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)	p.V395V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	AAGTTGGAATCACCACCATTG	0.458																																						uc003urq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1183-1185)GTG>GTA		cytochrome P450, family 3, subfamily A,	Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)						161.0	136.0	144.0					7																	99250244		2203	4300	6503	SO:0001819	synonymous_variant	1577				alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99250244C>T	L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"""Cytochrome P450s"""	2638	protein-coding gene	gene with protein product		605325	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"""				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.1185G>A	7.37:g.99250244C>T						ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_Silent_p.V215V|CYP3A5_uc003urr.2_Silent_p.V282V|CYP3A5_uc011kiy.1_Silent_p.V385V|CYP3A5_uc003urs.2_Silent_p.V43V|CYP3A5_uc010lgg.2_Intron	p.V395V	NM_000777	NP_000768	P20815	CP3A5_HUMAN			11	1272	-	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)		395					A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Silent	SNP	ENST00000222982.4	37	c.1185G>A	CCDS5672.1																																																																																				PASS	0.458	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1			50	162	50	162	---	---	---	---
MBLAC1	255374	broad.mit.edu	37	7	99725743	99725743	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:99725743C>T	ENST00000398075.2	+	2	1124	c.725C>T	c.(724-726)tCg>tTg	p.S242L	AC073842.19_ENST00000376482.3_RNA|RP11-506M12.1_ENST00000494221.1_RNA	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	242							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.S242L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						AGGGAAGCCTCGCAGCCCGAG	0.677																																						uc003utp.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(724-726)TCG>TTG		metallo-beta-lactamase domain containing 1							18.0	23.0	21.0					7																	99725743		1957	4127	6084	SO:0001583	missense	255374						hydrolase activity|metal ion binding	g.chr7:99725743C>T	BC031288	CCDS43620.1	7q22	2014-02-12	2009-04-08		ENSG00000214309	ENSG00000214309			22180	protein-coding gene	gene with protein product							Standard	XM_005250250		Approved	MGC49416	uc003utp.3	A4D2B0	OTTHUMG00000154846	ENST00000398075.2:c.725C>T	7.37:g.99725743C>T	ENSP00000381150:p.Ser242Leu						p.S242L	NM_203397	NP_981942	A4D2B0	MBLC1_HUMAN			2	1124	+			242					Q8N5X8	Missense_Mutation	SNP	ENST00000398075.2	37	c.725C>T	CCDS43620.1	.	.	.	.	.	.	.	.	.	.	C	4.820	0.152543	0.09185	.	.	ENSG00000214309	ENST00000398075	T	0.30981	1.51	3.33	-1.18	0.09617	.	3.691790	0.01401	U	0.013610	T	0.17959	0.0431	N	0.19112	0.55	0.09310	N	1	B	0.27117	0.168	B	0.12837	0.008	T	0.09818	-1.0657	10	0.28530	T	0.3	.	4.5373	0.12040	0.0:0.3604:0.4033:0.2363	.	242	A4D2B0	MBLC1_HUMAN	L	242	ENSP00000381150:S242L	ENSP00000381150:S242L	S	+	2	0	MBLAC1	99563679	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.212000	0.17497	-0.138000	0.11434	-0.215000	0.12644	TCG		PASS	0.677	MBLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337353.1	NM_203397		7	16	7	16	---	---	---	---
STAG3	10734	broad.mit.edu	37	7	99780374	99780374	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:99780374G>A	ENST00000426455.1	+	4	655	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	STAG3_ENST00000317296.5_Missense_Mutation_p.R83Q|STAG3_ENST00000394018.2_Missense_Mutation_p.R83Q	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	83					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.R83Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAAGGGTCCCGAGTGGTACAT	0.403																																						uc003utx.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(247-249)CGA>CAA		stromal antigen 3							159.0	167.0	164.0					7																	99780374		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99780374G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.248G>A	7.37:g.99780374G>A	ENSP00000400359:p.Arg83Gln					STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Missense_Mutation_p.R83Q	p.R83Q	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN			4	403	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		83					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.248G>A	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	G	0.657	-0.807355	0.02819	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000416412;ENST00000339784;ENST00000317296;ENST00000422690;ENST00000439782	T;T;T	0.25414	1.8;1.92;1.8	5.32	-10.6	0.00265	.	2.277770	0.02158	N	0.058587	T	0.12220	0.0297	N	0.05510	-0.035	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.0;0.002	T	0.10222	-1.0639	10	0.22706	T	0.39	7.4521	13.9845	0.64326	0.2773:0.0:0.6265:0.0961	.	83;83	B4DZ10;Q9UJ98	.;STAG3_HUMAN	Q	83	ENSP00000400359:R83Q;ENSP00000377586:R83Q;ENSP00000319318:R83Q	ENSP00000319318:R83Q	R	+	2	0	STAG3	99618310	0.000000	0.05858	0.000000	0.03702	0.284000	0.27059	-3.320000	0.00513	-2.237000	0.00712	-0.482000	0.04802	CGA		PASS	0.403	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		23	455	23	455	---	---	---	---
GATS	352954	broad.mit.edu	37	7	99869507	99869507	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:99869507A>T	ENST00000436886.2	-	1	348	c.100T>A	c.(100-102)Tca>Aca	p.S34T	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand	34								p.S34T(1)		endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCGTAGGTGAACAGCGGGAT	0.667																																						uc003uua.3																			1	Substitution - Missense(1)		lung(1)		0						c.(100-102)TCA>ACA		GATS, stromal antigen 3 opposite strand							74.0	87.0	83.0					7																	99869507		1941	4134	6075	SO:0001583	missense	352954							g.chr7:99869507A>T	AK095056	CCDS43621.1	7q22.1	2014-08-13	2009-04-08	2009-04-08	ENSG00000160844	ENSG00000239521			29954	protein-coding gene	gene with protein product	"""stromal antigen 3 opposite strand"""					12477932	Standard	NM_178831		Approved	DKFZp686B07267, STAG3OS	uc003uua.4	Q8NAP1	OTTHUMG00000155289	ENST00000436886.2:c.100T>A	7.37:g.99869507A>T	ENSP00000389760:p.Ser34Thr					GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc010lgt.2_RNA|GATS_uc010lgu.2_RNA	p.S34T	NM_178831	NP_849153	Q8NAP1	GATS_HUMAN			1	349	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		34					D6W5V0|Q68D93|Q6P198|Q6PII7|Q7Z720|Q86UK9	Missense_Mutation	SNP	ENST00000436886.2	37	c.100T>A	CCDS43621.1	.	.	.	.	.	.	.	.	.	.	A	5.233	0.228403	0.09916	.	.	ENSG00000160844	ENST00000436886	.	.	.	0.87	0.87	0.19102	.	0.073477	0.52532	N	0.000066	T	0.14098	0.0341	N	0.08118	0	0.20926	N	0.999823	B	0.12013	0.005	B	0.04013	0.001	T	0.21449	-1.0245	9	0.16896	T	0.51	.	5.9595	0.19291	1.0:0.0:0.0:0.0	.	34	Q8NAP1	GATS_HUMAN	T	34	.	ENSP00000389760:S34T	S	-	1	0	GATS	99707443	1.000000	0.71417	0.994000	0.49952	0.104000	0.19210	2.944000	0.49034	0.637000	0.30526	0.145000	0.16022	TCA		PASS	0.667	GATS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178831		24	55	24	55	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100606800	100606800	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:100606800G>A	ENST00000319509.7	+	4	1890	c.1890G>A	c.(1888-1890)ctG>ctA	p.L630L	RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2295	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)	p.L630L(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCCTGTCCCTGAGGTAGGAGA	0.498																																						uc003uxk.1																			2	Substitution - coding silent(2)		lung(2)										Homo sapiens MUC3B mRNA for intestinal mucin, partial cds.							29.0	25.0	26.0					7																	100606800		876	1989	2865	SO:0001819	synonymous_variant	0							g.chr7:100606800G>A	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.1890G>A	7.37:g.100606800G>A						uc003uxl.1_Silent_p.L530L|uc010lhn.1_5'Flank								3		+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	RNA	SNP	ENST00000319509.7	37	c.2274G>A																																																																																					PASS	0.498	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		12	12	12	12	---	---	---	---
KMT2E	55904	broad.mit.edu	37	7	104752711	104752711	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:104752711C>T	ENST00000311117.3	+	27	5053	c.4508C>T	c.(4507-4509)gCa>gTa	p.A1503V	KMT2E_ENST00000257745.4_Missense_Mutation_p.A1503V|KMT2E_ENST00000334914.7_Missense_Mutation_p.A558V|KMT2E_ENST00000334877.4_Missense_Mutation_p.A1461V|SRPK2_ENST00000493638.1_Intron	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1503	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.A1503V(1)									TATCCAGCAGCACAGAACCTT	0.463																																						uc003vcm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(4507-4509)GCA>GTA		myeloid/lymphoid or mixed-lineage leukemia 5							99.0	102.0	101.0					7																	104752711		2203	4300	6503	SO:0001583	missense	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104752711C>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4508C>T	7.37:g.104752711C>T	ENSP00000312379:p.Ala1503Val					MLL5_uc010ljc.2_Missense_Mutation_p.A1503V|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.A237V	p.A1503V	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			27	5042	+			1503			Pro-rich.		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.4508C>T	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090423	0.55968	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.92647	-3.08;-2.9;-3.08;0.67	3.62	3.62	0.41486	.	0.000000	0.46145	D	0.000313	D	0.83220	0.5207	N	0.14661	0.345	0.80722	D	1	B;B	0.21452	0.035;0.056	B;B	0.18871	0.023;0.014	T	0.80446	-0.1379	10	0.56958	D	0.05	.	9.547	0.39286	0.0:0.9003:0.0:0.0997	.	1423;1503	F8W6H1;Q8IZD2	.;MLL5_HUMAN	V	1503;1503;1461;1423;1503;558	ENSP00000312379:A1503V;ENSP00000335599:A1461V;ENSP00000257745:A1503V;ENSP00000333986:A558V	ENSP00000257745:A1503V	A	+	2	0	MLL5	104539947	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	3.821000	0.55700	1.729000	0.51567	0.455000	0.32223	GCA		PASS	0.463	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			11	71	11	71	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106513217	106513217	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:106513217A>T	ENST00000359195.3	+	4	2431	c.2121A>T	c.(2119-2121)agA>agT	p.R707S	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R707S|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R707S	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	707	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R707S(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCCAGTCCAGACACTATCAGC	0.443																																						uc003vdv.3																			1	Substitution - Missense(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(2119-2121)AGA>AGT		phosphoinositide-3-kinase, catalytic, gamma							108.0	107.0	107.0					7																	106513217		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106513217A>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2121A>T	7.37:g.106513217A>T	ENSP00000352121:p.Arg707Ser					PIK3CG_uc003vdu.2_Missense_Mutation_p.R707S|PIK3CG_uc003vdw.2_Missense_Mutation_p.R707S	p.R707S	NM_002649	NP_002640	P48736	PK3CG_HUMAN			4	2206	+			707					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.2121A>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308345	0.60305	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.62364	0.03;0.03;0.03	5.92	1.46	0.22682	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.084265	0.85682	D	0.000000	T	0.32102	0.0818	N	0.03029	-0.43	0.41564	D	0.988644	B	0.06786	0.001	B	0.04013	0.001	T	0.03641	-1.1017	10	0.26408	T	0.33	-28.1858	8.6932	0.34280	0.371:0.0:0.629:0.0	.	707	P48736	PK3CG_HUMAN	S	707	ENSP00000392258:R707S;ENSP00000419260:R707S;ENSP00000352121:R707S	ENSP00000352121:R707S	R	+	3	2	PIK3CG	106300453	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.810000	0.47979	0.218000	0.20820	0.533000	0.62120	AGA		PASS	0.443	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			50	106	50	106	---	---	---	---
ASZ1	136991	broad.mit.edu	37	7	117003719	117003719	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:117003719C>T	ENST00000284629.2	-	13	1421	c.1359G>A	c.(1357-1359)agG>agA	p.R453R		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1									p.R453R(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TAATAGCTGTCCTCTTCAAAA	0.313																																						uc003vjb.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1357-1359)AGG>AGA		ankyrin repeat, SAM and basic leucine zipper							116.0	115.0	116.0					7																	117003719		2203	4300	6503	SO:0001819	synonymous_variant	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117003719C>T	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.1359G>A	7.37:g.117003719C>T						ASZ1_uc011kno.1_Silent_p.R444R|ASZ1_uc011knp.1_Silent_p.R245R	p.R453R	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		13	1422	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		453						Silent	SNP	ENST00000284629.2	37	c.1359G>A	CCDS5772.1																																																																																				PASS	0.313	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		49	103	49	103	---	---	---	---
CFTR	1080	broad.mit.edu	37	7	117175451	117175451	+	Missense_Mutation	SNP	G	G	A	rs121908804		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:117175451G>A	ENST00000003084.6	+	6	861	c.729G>A	c.(727-729)atG>atA	p.M243I	CFTR_ENST00000454343.1_Missense_Mutation_p.M243I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	243	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.M243I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TAGGGAGAATGATGATGAAGT	0.423									Cystic Fibrosis																													uc003vjd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(727-729)ATG>ATA		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						106.0	99.0	101.0					7																	117175451		2203	4300	6503	SO:0001583	missense	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117175451G>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.729G>A	7.37:g.117175451G>A	ENSP00000003084:p.Met243Ile					CFTR_uc011knq.1_5'UTR	p.M243I	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		6	861	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		243			Cytoplasmic (Potential).|ABC transmembrane type-1 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.729G>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652221	0.67472	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.88124	-2.34;-2.34;-2.34	5.37	4.49	0.54785	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.124323	0.64402	D	0.000001	D	0.84032	0.5383	N	0.22421	0.69	0.35470	D	0.797232	B	0.30439	0.279	P	0.44394	0.448	D	0.83530	0.0090	10	0.23302	T	0.38	-18.8997	13.9163	0.63899	0.0731:0.0:0.9269:0.0	.	243	P13569	CFTR_HUMAN	I	243;243;213	ENSP00000003084:M243I;ENSP00000403677:M243I;ENSP00000389119:M213I	ENSP00000003084:M243I	M	+	3	0	CFTR	116962687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.276000	0.65580	1.270000	0.44297	0.650000	0.86243	ATG		PASS	0.423	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		9	210	9	210	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121652898	121652898	+	Silent	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:121652898T>C	ENST00000393386.2	+	12	4209	c.3798T>C	c.(3796-3798)agT>agC	p.S1266S	PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1266					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S1266S(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCTATGCAAGTGAGAAATATG	0.398																																						uc003vjy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(3796-3798)AGT>AGC		protein tyrosine phosphatase, receptor-type,							95.0	95.0	95.0					7																	121652898		2203	4300	6503	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121652898T>C	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3798T>C	7.37:g.121652898T>C						PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	p.S1266S	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	4193	+			1266			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.3798T>C	CCDS34740.1																																																																																				PASS	0.398	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		55	223	55	223	---	---	---	---
AASS	10157	broad.mit.edu	37	7	121756770	121756770	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:121756770G>C	ENST00000393376.1	-	7	906	c.811C>G	c.(811-813)Ctt>Gtt	p.L271V	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.L271V			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	271	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.L271V(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TTCCTGACAAGATGATGATGA	0.373																																						uc003vka.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(811-813)CTT>GTT		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						88.0	77.0	81.0					7																	121756770		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121756770G>C	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.811C>G	7.37:g.121756770G>C	ENSP00000377040:p.Leu271Val					AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.L271V|AASS_uc011knw.1_Intron	p.L271V	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			7	907	-			271			Lysine-ketoglutarate reductase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.811C>G	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314316	0.81358	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	D;D	0.82344	-1.6;-1.6	5.82	5.82	0.92795	Alanine dehydrogenase/PNT, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81375	0.4809	L	0.39397	1.21	0.80722	D	1	P	0.44816	0.844	P	0.45610	0.487	T	0.76735	-0.2850	10	0.18276	T	0.48	-22.5136	20.0953	0.97838	0.0:0.0:1.0:0.0	.	271	Q9UDR5	AASS_HUMAN	V	271	ENSP00000377040:L271V;ENSP00000403768:L271V	ENSP00000351834:L271V	L	-	1	0	AASS	121544006	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.010000	0.88615	2.767000	0.95098	0.655000	0.94253	CTT		PASS	0.373	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		20	109	20	109	---	---	---	---
SLC13A1	6561	broad.mit.edu	37	7	122765725	122765725	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:122765725G>A	ENST00000194130.2	-	11	1177	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	380					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.P380S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GCAAAACCAGGGTACCTGTAA	0.338																																						uc003vkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1138-1140)CCT>TCT		solute carrier family 13 (sodium/sulfate	Succinic acid(DB00139)						111.0	116.0	115.0					7																	122765725		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122765725G>A		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1138C>T	7.37:g.122765725G>A	ENSP00000194130:p.Pro380Ser					SLC13A1_uc010lks.2_Missense_Mutation_p.P256S	p.P380S	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN			11	1163	-			380					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.1138C>T	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	G	6.279	0.419630	0.11928	.	.	ENSG00000081800	ENST00000194130	T	0.02916	4.11	6.07	2.06	0.26882	.	0.614170	0.18175	N	0.149334	T	0.01940	0.0061	N	0.21240	0.645	0.19300	N	0.999976	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.46884	-0.9159	10	0.22706	T	0.39	.	4.744	0.13028	0.2355:0.0:0.519:0.2455	.	380;380	A4D0X1;Q9BZW2	.;S13A1_HUMAN	S	380	ENSP00000194130:P380S	ENSP00000194130:P380S	P	-	1	0	SLC13A1	122552961	0.955000	0.32602	0.770000	0.31555	0.526000	0.34562	0.618000	0.24373	0.914000	0.36822	-0.136000	0.14681	CCT		PASS	0.338	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		44	219	44	219	---	---	---	---
HYAL4	23553	broad.mit.edu	37	7	123509056	123509056	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:123509056G>A	ENST00000223026.4	+	3	1367	c.729G>A	c.(727-729)ttG>ttA	p.L243L	HYAL4_ENST00000476325.1_Silent_p.L243L	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	243					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)	p.L243L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						ACGAAGTCTTGAGGAACAATG	0.448																																						uc003vlc.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(727-729)TTG>TTA		hyaluronoglucosaminidase 4							87.0	90.0	89.0					7																	123509056		2203	4300	6503	SO:0001819	synonymous_variant	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123509056G>A	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.729G>A	7.37:g.123509056G>A						HYAL4_uc011knz.1_Silent_p.L243L	p.L243L	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN			3	1367	+			243			Extracellular (Potential).		D0VXG1|Q9UL99|Q9Y6T9	Silent	SNP	ENST00000223026.4	37	c.729G>A	CCDS5789.1																																																																																				PASS	0.448	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		4	160	4	160	---	---	---	---
PAX4	5078	broad.mit.edu	37	7	127254951	127254951	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:127254951G>T	ENST00000341640.2	-	2	524	c.319C>A	c.(319-321)Cag>Aag	p.Q107K	PAX4_ENST00000338516.3_Missense_Mutation_p.Q115K|PAX4_ENST00000463946.1_Missense_Mutation_p.Q105K|PAX4_ENST00000378740.2_Missense_Mutation_p.Q107K	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	115	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.Q107K(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GTCTTGTCCTGGGTGCAAAGC	0.552																																					Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(319-321)CAG>AAG		paired box 4							41.0	40.0	40.0					7																	127254951		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127254951G>T		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.319C>A	7.37:g.127254951G>T	ENSP00000339906:p.Gln107Lys					PAX4_uc003vmf.2_Missense_Mutation_p.Q105K|PAX4_uc003vmg.1_Missense_Mutation_p.Q107K|PAX4_uc003vmh.2_Missense_Mutation_p.Q105K	p.Q107K	NM_006193	NP_006184	O43316	PAX4_HUMAN			2	525	-			115			Paired.		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.319C>A	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857814	0.32791	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.99207	-5.56;-5.56;-5.56	5.48	4.57	0.56435	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.333536	0.32687	N	0.005773	D	0.96219	0.8767	N	0.11064	0.09	0.33859	D	0.63355	B;B;B;B	0.24651	0.035;0.061;0.108;0.072	B;B;B;B	0.31751	0.034;0.064;0.135;0.062	D	0.96322	0.9237	10	0.16896	T	0.51	.	11.5562	0.50750	0.0:0.0:0.6934:0.3066	.	107;105;115;105	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	K	107;115;115;105	ENSP00000339906:Q107K;ENSP00000344297:Q115K;ENSP00000451923:Q105K	ENSP00000344297:Q115K	Q	-	1	0	PAX4	127042187	0.950000	0.32346	0.995000	0.50966	0.979000	0.70002	2.303000	0.43646	2.566000	0.86566	0.655000	0.94253	CAG		PASS	0.552	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			23	80	23	80	---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	133622811	133622811	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:133622811C>T	ENST00000253861.4	+	14	2224	c.2195C>T	c.(2194-2196)tCt>tTt	p.S732F	EXOC4_ENST00000541309.1_Missense_Mutation_p.S20F|EXOC4_ENST00000545148.1_Missense_Mutation_p.S342F|EXOC4_ENST00000539845.1_Missense_Mutation_p.S631F	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	732					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)	p.S732F(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TCCAATCTTTCTACATCCCAG	0.463																																						uc003vrk.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(2194-2196)TCT>TTT		SEC8 protein isoform a							85.0	72.0	76.0					7																	133622811		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133622811C>T	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2195C>T	7.37:g.133622811C>T	ENSP00000253861:p.Ser732Phe					EXOC4_uc011kpo.1_Missense_Mutation_p.S631F|EXOC4_uc003vrl.2_Missense_Mutation_p.S342F|EXOC4_uc011kpp.1_Missense_Mutation_p.S264F|EXOC4_uc011kpq.1_Missense_Mutation_p.S20F	p.S732F	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			14	2230	+		Esophageal squamous(399;0.129)	732					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.2195C>T	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824640	0.71143	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.87	5.87	0.94306	.	0.119182	0.64402	D	0.000013	T	0.55481	0.1923	N	0.08118	0	0.58432	D	0.99999	P;D;P	0.54047	0.904;0.964;0.761	B;P;B	0.55161	0.439;0.77;0.123	T	0.62732	-0.6792	9	0.59425	D	0.04	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	264;342;732	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	F	732;351;631;342;20	.	ENSP00000253861:S732F	S	+	2	0	EXOC4	133273351	1.000000	0.71417	0.921000	0.36526	0.676000	0.39594	5.882000	0.69714	2.941000	0.99782	0.655000	0.94253	TCT		PASS	0.463	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		20	116	20	116	---	---	---	---
LRGUK	136332	broad.mit.edu	37	7	133812168	133812168	+	Silent	SNP	C	C	A	rs568627931	byFrequency	TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:133812168C>A	ENST00000285928.2	+	1	117	c.48C>A	c.(46-48)ctC>ctA	p.L16L	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	16						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.L16L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CTGCCTCTCTCCTGAGAGGCT	0.597													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16930	0.0		0.0	False		,,,				2504	0.0					uc003vrm.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|kidney(1)	5						c.(46-48)CTC>CTA		leucine-rich repeats and guanylate kinase domain							87.0	92.0	90.0					7																	133812168		2203	4300	6503	SO:0001819	synonymous_variant	136332						ATP binding|kinase activity	g.chr7:133812168C>A	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.48C>A	7.37:g.133812168C>A							p.L16L	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			1	64	+			16					Q2M3I1	Silent	SNP	ENST00000285928.2	37	c.48C>A	CCDS5830.1																																																																																				PASS	0.597	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		32	118	32	118	---	---	---	---
AKR1B10	57016	broad.mit.edu	37	7	134221806	134221806	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:134221806G>C	ENST00000359579.4	+	6	876	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	186					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)	p.E186Q(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GTTGCAGGTTGAGTGTCACCC	0.527																																						uc003vrr.2																			1	Substitution - Missense(1)		lung(1)	skin(5)	5						c.(556-558)GAG>CAG		aldo-keto reductase family 1, member B10							27.0	42.0	37.0					7																	134221806		2169	4281	6450	SO:0001583	missense	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134221806G>C	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.556G>C	7.37:g.134221806G>C	ENSP00000352584:p.Glu186Gln						p.E186Q	NM_020299	NP_064695	O60218	AK1BA_HUMAN			6	876	+			186					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Missense_Mutation	SNP	ENST00000359579.4	37	c.556G>C	CCDS5832.1	.	.	.	.	.	.	.	.	.	.	-	19.70	3.876705	0.72180	.	.	ENSG00000198074	ENST00000359579	T	0.20738	2.05	4.53	4.53	0.55603	NADP-dependent oxidoreductase domain (3);	0.049412	0.85682	D	0.000000	T	0.55577	0.1929	M	0.93016	3.37	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.69518	-0.5124	10	0.87932	D	0	.	16.6644	0.85248	0.0:0.0:1.0:0.0	.	186	O60218	AK1BA_HUMAN	Q	186	ENSP00000352584:E186Q	ENSP00000352584:E186Q	E	+	1	0	AKR1B10	133872346	1.000000	0.71417	0.909000	0.35828	0.601000	0.36947	9.100000	0.94213	2.241000	0.73720	0.556000	0.70494	GAG		PASS	0.527	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		31	60	31	60	---	---	---	---
ATP6V0A4	50617	broad.mit.edu	37	7	138447711	138447711	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:138447711C>G	ENST00000310018.2	-	6	633	c.351G>C	c.(349-351)ttG>ttC	p.L117F	ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.L117F|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.L117F	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	117					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.L117F(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGCTTTGTTTCAAGGCCTGCT	0.463																																						uc003vuf.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(349-351)TTG>TTC		ATPase, H+ transporting, lysosomal V0 subunit							192.0	174.0	180.0					7																	138447711		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138447711C>G	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.351G>C	7.37:g.138447711C>G	ENSP00000308122:p.Leu117Phe					ATP6V0A4_uc003vug.2_Missense_Mutation_p.L117F|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.L117F	p.L117F	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			5	589	-			117			Cytoplasmic (Potential).		A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.351G>C	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124827	0.77436	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.91996	-2.95;-2.95;-2.95	5.21	3.41	0.39046	.	0.154984	0.36444	N	0.002582	D	0.96241	0.8774	M	0.92555	3.32	0.58432	D	0.99999	D	0.63880	0.993	D	0.65773	0.938	D	0.96063	0.9040	10	0.72032	D	0.01	-26.1136	11.3732	0.49713	0.0:0.8512:0.0:0.1488	.	117	Q9HBG4	VPP4_HUMAN	F	117	ENSP00000308122:L117F;ENSP00000376774:L117F;ENSP00000253856:L117F	ENSP00000308122:L117F	L	-	3	2	ATP6V0A4	138098251	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.985000	0.40668	0.865000	0.35603	0.655000	0.94253	TTG		PASS	0.463	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		49	200	49	200	---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141740571	141740571	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:141740571G>T	ENST00000549489.2	+	21	2518	c.2423G>T	c.(2422-2424)gGa>gTa	p.G808V	MGAM_ENST00000475668.2_Missense_Mutation_p.G808V	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	808	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.G808V(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAACTTCCTGGAGACAAAATT	0.483																																						uc003vwy.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(2422-2424)GGA>GTA		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						115.0	117.0	117.0					7																	141740571		1991	4170	6161	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141740571G>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2423G>T	7.37:g.141740571G>T	ENSP00000447378:p.Gly808Val						p.G808V	NM_004668	NP_004659	O43451	MGA_HUMAN			21	2477	+	Melanoma(164;0.0272)		808			Lumenal (Potential).|Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.2423G>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499293	0.44455	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.90504	-2.68	5.48	-0.44	0.12261	.	1.428110	0.04617	N	0.401267	D	0.83501	0.5268	L	0.28608	0.87	0.46356	D	0.999009	B	0.32071	0.355	B	0.38378	0.272	T	0.72107	-0.4390	10	0.15499	T	0.54	.	1.6684	0.02807	0.2976:0.3302:0.2535:0.1187	.	808	O43451	MGA_HUMAN	V	808;808;685	ENSP00000447378:G808V	ENSP00000316431:G685V	G	+	2	0	MGAM	141387040	0.181000	0.23161	0.993000	0.49108	0.998000	0.95712	-0.331000	0.07914	0.135000	0.18707	0.650000	0.86243	GGA		PASS	0.483	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			27	45	27	45	---	---	---	---
CASP2	835	broad.mit.edu	37	7	143000960	143000960	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:143000960G>T	ENST00000310447.5	+	9	1292	c.1051G>T	c.(1051-1053)Gaa>Taa	p.E351*	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	351					aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.E351*(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					TGCCGGTAAAGAAAAGTTGCC	0.507																																						uc003wco.2																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|ovary(1)	3						c.(1051-1053)GAA>TAA		caspase 2 isoform 1 preproprotein							106.0	90.0	96.0					7																	143000960		2203	4300	6503	SO:0001587	stop_gained	835				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding	g.chr7:143000960G>T	AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.1051G>T	7.37:g.143000960G>T	ENSP00000312664:p.Glu351*					CASP2_uc003wcp.2_3'UTR|CASP2_uc011kta.1_Nonsense_Mutation_p.E235*|CASP2_uc003wcq.2_RNA|CASP2_uc011ktb.1_Nonsense_Mutation_p.E101*	p.E351*	NM_032982	NP_116764	P42575	CASP2_HUMAN			9	1198	+	Melanoma(164;0.059)		351					A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Nonsense_Mutation	SNP	ENST00000310447.5	37	c.1051G>T	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168205	0.94768	.	.	ENSG00000106144	ENST00000310447	.	.	.	5.56	4.67	0.58626	.	0.507584	0.24381	N	0.039008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	10.7823	0.46384	0.0708:0.1328:0.7964:0.0	.	.	.	.	X	351	.	ENSP00000312664:E351X	E	+	1	0	CASP2	142711082	1.000000	0.71417	0.010000	0.14722	0.209000	0.24338	6.082000	0.71318	1.334000	0.45468	0.644000	0.83932	GAA		PASS	0.507	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	NM_032982		16	30	16	30	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146805423	146805423	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:146805423G>A	ENST00000361727.3	+	5	1251	c.735G>A	c.(733-735)ctG>ctA	p.L245L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	245	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.L245L(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAGCCAAGCTGGTCCTCAGTT	0.398										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(733-735)CTG>CTA		cell recognition molecule Caspr2 precursor							106.0	97.0	100.0					7																	146805423		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146805423G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.735G>A	7.37:g.146805423G>A		HNSCC(39;0.1)					p.L245L	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		5	1251	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	245			Laminin G-like 1.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.735G>A	CCDS5889.1																																																																																				PASS	0.398	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			11	72	11	72	---	---	---	---
KRBA1	84626	broad.mit.edu	37	7	149418625	149418625	+	Splice_Site	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:149418625C>T	ENST00000485033.2	+	4	465	c.465C>T	c.(463-465)atC>atT	p.I155I	KRBA1_ENST00000255992.10_Splice_Site_p.I155I|KRBA1_ENST00000319551.8_Splice_Site_p.I155I|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	155								p.I155I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCTCCCCATCAGTGAGTCTG	0.602																																						uc003wfz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(463-465)ATC>ATT		KRAB A domain containing 1							18.0	21.0	20.0					7																	149418625		2059	4202	6261	SO:0001630	splice_region_variant	84626							g.chr7:149418625C>T	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.466+1C>T	7.37:g.149418625C>T						KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'Flank	p.I155I	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	864	+	Melanoma(164;0.165)|Ovarian(565;0.177)		155					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Silent	SNP	ENST00000485033.2	37	c.465C>T		.	.	.	.	.	.	.	.	.	.	C	1.320	-0.599755	0.03744	.	.	ENSG00000133619	ENST00000467333	.	.	.	2.87	-0.0687	0.13755	.	.	.	.	.	.	.	.	.	.	.	0.23988	N	0.996253	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.2119	5.1174	0.14843	0.0:0.5513:0.0:0.4487	.	.	.	.	X	65	.	.	Q	+	1	0	KRBA1	149049558	0.107000	0.21998	0.105000	0.21289	0.095000	0.18619	0.322000	0.19576	-0.020000	0.14032	0.591000	0.81541	CAG		PASS	0.602	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534	Silent	7	22	7	22	---	---	---	---
ZNF467	168544	broad.mit.edu	37	7	149467534	149467534	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:149467534C>G	ENST00000302017.3	-	3	559	c.146G>C	c.(145-147)tGc>tCc	p.C49S	ZNF467_ENST00000484747.1_Missense_Mutation_p.C49S	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	49					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.C49S(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTACCTGAGCACACCCCCAG	0.607																																						uc003wgd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(145-147)TGC>TCC		zinc finger protein 467							60.0	60.0	60.0					7																	149467534		2203	4300	6503	SO:0001583	missense	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149467534C>G	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.146G>C	7.37:g.149467534C>G	ENSP00000304769:p.Cys49Ser					ZNF467_uc003wgc.2_Missense_Mutation_p.C49S	p.C49S	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		3	287	-	Melanoma(164;0.165)|Ovarian(565;0.177)		49						Missense_Mutation	SNP	ENST00000302017.3	37	c.146G>C	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	c	3.234	-0.156838	0.06544	.	.	ENSG00000181444	ENST00000484747;ENST00000302017	T	0.06371	3.31	3.92	1.9	0.25705	.	.	.	.	.	T	0.03608	0.0103	N	0.17082	0.46	0.24087	N	0.995928	B;B	0.18013	0.0;0.025	B;B	0.14023	0.0;0.01	T	0.45542	-0.9254	9	0.21540	T	0.41	-5.2601	4.7563	0.13086	0.0:0.7016:0.0:0.2984	.	49;49	Q7Z7K2;C9JAX3	ZN467_HUMAN;.	S	49	ENSP00000304769:C49S	ENSP00000304769:C49S	C	-	2	0	ZNF467	149098467	0.188000	0.23250	0.345000	0.25642	0.147000	0.21601	0.483000	0.22292	0.846000	0.35142	0.651000	0.88453	TGC		PASS	0.607	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		6	122	6	122	---	---	---	---
RARRES2	5919	broad.mit.edu	37	7	150037244	150037244	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:150037244G>C	ENST00000466675.1	-	2	1257	c.224C>G	c.(223-225)aCa>aGa	p.T75R	RARRES2_ENST00000223271.3_Missense_Mutation_p.T75R|RARRES2_ENST00000482669.1_Missense_Mutation_p.T75R|RP4-584D14.7_ENST00000563946.1_RNA			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	75					brown fat cell differentiation (GO:0050873)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of protein phosphorylation (GO:0001934)|regulation of lipid catabolic process (GO:0050994)|retinoid metabolic process (GO:0001523)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.T75R(1)		endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCGGCAGCTTGTCTGCTGCAG	0.587																																						uc003wha.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(223-225)ACA>AGA		chemerin preproprotein							300.0	315.0	310.0					7																	150037244		2203	4300	6503	SO:0001583	missense	5919				embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding	g.chr7:150037244G>C	U77594	CCDS5902.1	7q36.1	2013-02-25			ENSG00000106538	ENSG00000106538		"""Endogenous ligands"""	9868	protein-coding gene	gene with protein product	"""chemerin"""	601973				9270552, 17767914	Standard	NM_002889		Approved	TIG2, HP10433	uc003wha.3	Q99969	OTTHUMG00000158325	ENST00000466675.1:c.224C>G	7.37:g.150037244G>C	ENSP00000418009:p.Thr75Arg					RARRES2_uc010lpp.1_Missense_Mutation_p.T75R	p.T75R	NM_002889	NP_002880	Q99969	RARR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		3	341	-			75					Q7LE02	Missense_Mutation	SNP	ENST00000466675.1	37	c.224C>G	CCDS5902.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022144	0.54576	.	.	ENSG00000106538	ENST00000223271;ENST00000467793;ENST00000466675;ENST00000482669	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000010	T	0.57169	0.2035	M	0.74258	2.255	0.40037	D	0.975604	D	0.89917	1.0	D	0.87578	0.998	T	0.62435	-0.6855	10	0.87932	D	0	-22.5852	16.5402	0.84383	0.0:0.0:1.0:0.0	.	75	Q99969	RARR2_HUMAN	R	75	ENSP00000223271:T75R;ENSP00000417669:T75R;ENSP00000418009:T75R;ENSP00000418483:T75R	ENSP00000223271:T75R	T	-	2	0	RARRES2	149668177	1.000000	0.71417	0.947000	0.38551	0.951000	0.60555	5.362000	0.66098	2.490000	0.84030	0.555000	0.69702	ACA		PASS	0.587	RARRES2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350693.1			13	708	13	708	---	---	---	---
GIMAP7	168537	broad.mit.edu	37	7	150217087	150217087	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:150217087C>T	ENST00000313543.4	+	2	182	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	9	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)	p.L9L(1)		breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACCGCTCCCTGAGGATCGT	0.502																																						uc003whk.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(25-27)CTG>TTG		GTPase, IMAP family member 7							65.0	59.0	61.0					7																	150217087		2203	4300	6503	SO:0001819	synonymous_variant	168537						GTP binding	g.chr7:150217087C>T	BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.25C>T	7.37:g.150217087C>T							p.L9L	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	155	+			9						Silent	SNP	ENST00000313543.4	37	c.25C>T	CCDS5903.1																																																																																				PASS	0.502	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236		44	84	44	84	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151921142	151921142	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:151921142T>C	ENST00000262189.6	-	20	3499	c.3281A>G	c.(3280-3282)tAt>tGt	p.Y1094C	KMT2C_ENST00000355193.2_Missense_Mutation_p.Y1094C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1094					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Y1094C(2)									TTCTTCTCTATAGTTTCGATA	0.373																																						uc003wla.2										N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(3280-3282)TAT>TGT		myeloid/lymphoid or mixed-lineage leukemia 3							67.0	60.0	62.0					7																	151921142		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151921142T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3281A>G	7.37:g.151921142T>C	ENSP00000262189:p.Tyr1094Cys					MLL3_uc003wkz.2_Missense_Mutation_p.Y155C	p.Y1094C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	20	3500	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1094			PHD-type 6.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.3281A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311042	0.60414	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.65732	-0.17;-0.17	5.39	5.39	0.77823	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.42294	D	0.000730	T	0.80727	0.4678	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.84048	0.0368	10	0.87932	D	0	.	15.4114	0.74923	0.0:0.0:0.0:1.0	.	1094;155	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	C	1094	ENSP00000262189:Y1094C;ENSP00000347325:Y1094C	ENSP00000262189:Y1094C	Y	-	2	0	MLL3	151552075	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	5.058000	0.64300	2.045000	0.60652	0.528000	0.53228	TAT		PASS	0.373	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			35	93	35	93	---	---	---	---
PTPRN2	5799	broad.mit.edu	37	7	157396756	157396756	+	Missense_Mutation	SNP	G	G	A	rs201790422		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:157396756G>A	ENST00000389418.4	-	16	2365	c.2356C>T	c.(2356-2358)Cgg>Tgg	p.R786W	PTPRN2_ENST00000409483.1_Missense_Mutation_p.R748W|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R809W|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R769W|PTPRN2_ENST00000389413.3_Missense_Mutation_p.R757W	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	786	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R786W(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGCAGGACCCGGGAGTGGTCA	0.642																																						uc003wno.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(2356-2358)CGG>TGG		protein tyrosine phosphatase, receptor type, N							98.0	77.0	84.0					7																	157396756		2203	4300	6503	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157396756G>A	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2356C>T	7.37:g.157396756G>A	ENSP00000374069:p.Arg786Trp					PTPRN2_uc003wnp.2_Missense_Mutation_p.R769W|PTPRN2_uc003wnq.2_Missense_Mutation_p.R757W|PTPRN2_uc003wnr.2_Missense_Mutation_p.R748W|PTPRN2_uc011kwa.1_Missense_Mutation_p.R809W	p.R786W	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	16	2477	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	786			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.2356C>T	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760800	0.49468	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.28	-1.79	0.07932	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.72011	0.3408	H	0.99634	4.67	0.47819	D	0.999526	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.83312	-0.0022	10	0.87932	D	0	.	16.6032	0.84821	0.0:0.0:0.6138:0.3862	.	809;748;757;769;786	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	W	748;757;769;786;809	ENSP00000387114:R748W;ENSP00000374064:R757W;ENSP00000374067:R769W;ENSP00000374069:R786W;ENSP00000385464:R809W	ENSP00000374064:R757W	R	-	1	2	PTPRN2	157089517	1.000000	0.71417	0.981000	0.43875	0.381000	0.30169	2.168000	0.42424	-0.588000	0.05882	-1.014000	0.02459	CGG		PASS	0.642	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			29	52	29	52	---	---	---	---
PTPRN2	5799	broad.mit.edu	37	7	157985113	157985113	+	Missense_Mutation	SNP	C	C	T	rs373081454	byFrequency	TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr7:157985113C>T	ENST00000389418.4	-	5	464	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	PTPRN2_ENST00000409483.1_Missense_Mutation_p.R114Q|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R175Q|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R135Q|PTPRN2_ENST00000389413.3_Missense_Mutation_p.R152Q	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	152					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R152Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CAGGTGGCGTCGGAGGGCGTT	0.652													C|||	2	0.000399361	0.0008	0.0	5008	,	,		14626	0.0		0.001	False		,,,				2504	0.0					uc003wno.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(454-456)CGA>CAA		protein tyrosine phosphatase, receptor type, N			GLN/ARG,GLN/ARG,GLN/ARG	0,4404		0,0,2202	48.0	57.0	54.0		455,404,455	0.2	0.1	7		54	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	43,43,43	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	152/1016,135/999,152/987	157985113	1,13001	2202	4299	6501	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157985113C>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.455G>A	7.37:g.157985113C>T	ENSP00000374069:p.Arg152Gln					PTPRN2_uc003wnp.2_Missense_Mutation_p.R135Q|PTPRN2_uc003wnq.2_Missense_Mutation_p.R152Q|PTPRN2_uc003wnr.2_Missense_Mutation_p.R114Q|PTPRN2_uc011kwa.1_Missense_Mutation_p.R175Q	p.R152Q	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	5	576	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	152			Extracellular (Potential).		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.455G>A	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	0.184	-1.059421	0.01950	0.0	1.16E-4	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.02763	4.23;4.17;4.21;4.21;4.2	4.17	0.243	0.15503	.	1.242070	0.06398	N	0.718296	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.0;0.001;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.001;0.0;0.0	T	0.43925	-0.9361	10	0.02654	T	1	.	6.455	0.21924	0.0:0.3295:0.0:0.6705	.	175;114;152;135;152	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	Q	114;152;135;152;175	ENSP00000387114:R114Q;ENSP00000374064:R152Q;ENSP00000374067:R135Q;ENSP00000374069:R152Q;ENSP00000385464:R175Q	ENSP00000374064:R152Q	R	-	2	0	PTPRN2	157677874	0.150000	0.22732	0.107000	0.21349	0.002000	0.02628	0.037000	0.13840	-0.030000	0.13804	-0.948000	0.02665	CGA		PASS	0.652	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			31	50	31	50	---	---	---	---
FBXO25	26260	broad.mit.edu	37	8	401300	401300	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:401300C>G	ENST00000276326.5	+	7	626	c.507C>G	c.(505-507)atC>atG	p.I169M	RP11-91J19.3_ENST00000607549.1_RNA|FBXO25_ENST00000382824.1_Missense_Mutation_p.I102M|FBXO25_ENST00000352684.2_Missense_Mutation_p.I102M|FBXO25_ENST00000350302.3_Missense_Mutation_p.I169M	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	169					protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.I169M(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		CTCGCTTAATCAAAGATCTTC	0.353																																						uc003wox.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(505-507)ATC>ATG		F-box only protein 25 isoform 1							120.0	114.0	116.0					8																	401300		2203	4300	6503	SO:0001583	missense	26260					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity	g.chr8:401300C>G	AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"""F-boxes /  ""other"""""	13596	protein-coding gene	gene with protein product		609098	"""F-box only protein 25"""			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.507C>G	8.37:g.401300C>G	ENSP00000276326:p.Ile169Met					FBXO25_uc003woy.2_Missense_Mutation_p.I169M|FBXO25_uc003woz.2_Missense_Mutation_p.I102M|FBXO25_uc003wpa.2_Translation_Start_Site	p.I169M	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)	7	773	+		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)	169					Q6PJ83|Q7Z4V4|Q9UKB8	Missense_Mutation	SNP	ENST00000276326.5	37	c.507C>G	CCDS5953.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977752	0.74360	.	.	ENSG00000147364	ENST00000350302;ENST00000352684;ENST00000276326;ENST00000447233;ENST00000382824	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	5.93	4.09	0.47781	.	0.092483	0.64402	D	0.000001	T	0.39489	0.1080	M	0.71581	2.175	0.52099	D	0.999943	D;D;D	0.55800	0.958;0.973;0.973	P;P;P	0.59825	0.748;0.864;0.864	T	0.11591	-1.0581	10	0.40728	T	0.16	-39.0794	12.3243	0.55001	0.4434:0.5566:0.0:0.0	.	102;169;169	Q8TCJ0-3;Q8TCJ0-2;Q8TCJ0	.;.;FBX25_HUMAN	M	169;102;169;169;102	ENSP00000342077:I169M;ENSP00000341345:I102M;ENSP00000276326:I169M;ENSP00000372274:I102M	ENSP00000276326:I169M	I	+	3	3	FBXO25	391300	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	1.848000	0.39309	0.797000	0.33971	0.655000	0.94253	ATC		PASS	0.353	FBXO25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206710.2	NM_012173		38	130	38	130	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2966125	2966125	+	Splice_Site	SNP	C	C	G	rs369177851		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:2966125C>G	ENST00000520002.1	-	45	7312	c.6757G>C	c.(6757-6759)Gca>Cca	p.A2253P	CSMD1_ENST00000602723.1_Splice_Site_p.A2253P|CSMD1_ENST00000602557.1_Splice_Site_p.A2253P|CSMD1_ENST00000537824.1_Splice_Site_p.A2252P|CSMD1_ENST00000542608.1_Splice_Site_p.A2252P|CSMD1_ENST00000400186.3_Splice_Site_p.A2253P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2253	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.A1981P(1)|p.A2252P(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATCAACTGACCGTGGAAATTG	0.473																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(6757-6759)GCA>CCA		CUB and Sushi multiple domains 1 precursor							66.0	66.0	66.0					8																	2966125		1958	4158	6116	SO:0001630	splice_region_variant	64478					integral to membrane		g.chr8:2966125C>G			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6757+1G>C	8.37:g.2966125C>G						CSMD1_uc011kwj.1_Missense_Mutation_p.A1645P|CSMD1_uc010lrg.2_Missense_Mutation_p.A321P	p.A2253P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	44	7147	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2253			Extracellular (Potential).|CUB 13.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.6757G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.03|17.03	3.283530|3.283530	0.59867|0.59867	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.61742|.	0.08;0.08;0.08;0.08|.	4.95|4.95	4.07|4.07	0.47477|0.47477	CUB (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83599|0.83599	0.5289|0.5289	M|M	0.92122|0.92122	3.275|3.275	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.81914|.	0.995;0.995;0.995|.	D|D	0.87253|0.87253	0.2274|0.2274	9|5	.|.	.|.	.|.	.|.	13.5602|13.5602	0.61784|0.61784	0.0:0.9237:0.0:0.0763|0.0:0.9237:0.0:0.0763	.|.	2253;2253;2252|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	P|P	2253;2253;2114;2252;2252|1732	ENSP00000383047:A2253P;ENSP00000430733:A2253P;ENSP00000441462:A2252P;ENSP00000446243:A2252P|.	.|.	A|R	-|-	1|2	0|0	CSMD1|CSMD1	2953532|2953532	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.198000|0.198000	0.23893|0.23893	7.282000|7.282000	0.78630|0.78630	1.197000|1.197000	0.43143|0.43143	0.579000|0.579000	0.79373|0.79373	GCA|CGC		PASS	0.473	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Missense_Mutation	4	24	4	24	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	4495078	4495078	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:4495078G>A	ENST00000520002.1	-	2	643	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Q30*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.Q30*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Q30*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Q30*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Q30*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Q30*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	30						integral component of membrane (GO:0016021)		p.Q30*(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCACAGTTCTGACCTGGAAGA	0.403																																						uc011kwk.1																			1	Substitution - Nonsense(1)		lung(1)	breast(20)|large_intestine(5)	25						c.(88-90)CAG>TAG		CUB and Sushi multiple domains 1 precursor							52.0	50.0	51.0					8																	4495078		1860	4110	5970	SO:0001587	stop_gained	64478					integral to membrane		g.chr8:4495078G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.88C>T	8.37:g.4495078G>A	ENSP00000430733:p.Gln30*						p.Q30*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	2	478	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	30			Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37	c.88C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.326106	0.97476	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	16.4949	0.84237	0.0:0.0:1.0:0.0	.	.	.	.	X	30	.	ENSP00000383047:Q30X	Q	-	1	0	CSMD1	4482486	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	5.196000	0.65136	2.508000	0.84585	0.585000	0.79938	CAG		PASS	0.403	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	66	7	66	---	---	---	---
ANGPT2	285	broad.mit.edu	37	8	6378765	6378765	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:6378765G>A	ENST00000325203.5	-	4	1207	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	ANGPT2_ENST00000523120.1_Nonsense_Mutation_p.Q245*|ANGPT2_ENST00000338312.6_Nonsense_Mutation_p.Q193*|ANGPT2_ENST00000415216.1_Nonsense_Mutation_p.Q245*|MCPH1_ENST00000344683.5_Intron			O15123	ANGP2_HUMAN	angiopoietin 2	245					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)	p.Q245*(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TGCTGCTTCTGAAGAACTGAA	0.358																																						uc003wqj.3																			2	Substitution - Nonsense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(733-735)CAG>TAG		angiopoietin 2 isoform a precursor							158.0	151.0	153.0					8																	6378765		2203	4300	6503	SO:0001587	stop_gained	285				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding	g.chr8:6378765G>A	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.733C>T	8.37:g.6378765G>A	ENSP00000314897:p.Gln245*					MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Nonsense_Mutation_p.Q245*|ANGPT2_uc010lri.2_Nonsense_Mutation_p.Q193*|ANGPT2_uc003wql.3_Nonsense_Mutation_p.Q245*	p.Q245*	NM_001147	NP_001138	O15123	ANGP2_HUMAN		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)	4	1062	-		Hepatocellular(245;0.0663)	245			Potential.		A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Nonsense_Mutation	SNP	ENST00000325203.5	37	c.733C>T	CCDS5958.1	.	.	.	.	.	.	.	.	.	.	G	38	7.153685	0.98099	.	.	ENSG00000091879	ENST00000325203;ENST00000415216;ENST00000338312;ENST00000523120	.	.	.	5.91	5.91	0.95273	.	0.112111	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	17.7923	0.88558	0.0:0.0:1.0:0.0	.	.	.	.	X	245;245;193;245	.	ENSP00000314897:Q245X	Q	-	1	0	ANGPT2	6366173	1.000000	0.71417	0.785000	0.31869	0.694000	0.40290	7.161000	0.77505	2.793000	0.96121	0.655000	0.94253	CAG		PASS	0.358	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147		16	158	16	158	---	---	---	---
RHOBTB2	23221	broad.mit.edu	37	8	22874894	22874894	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:22874894G>A	ENST00000251822.6	+	10	2633	c.2096G>A	c.(2095-2097)cGg>cAg	p.R699Q	RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.R721Q|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.R706Q	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	699					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.R699Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CAGCCCAAACGGCGTTGGCTC	0.607																																						uc003xcq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2095-2097)CGG>CAG		Rho-related BTB domain containing 2 isoform 3							154.0	118.0	130.0					8																	22874894		2203	4300	6503	SO:0001583	missense	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22874894G>A	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.2096G>A	8.37:g.22874894G>A	ENSP00000251822:p.Arg699Gln					RHOBTB2_uc003xcp.2_Missense_Mutation_p.R721Q|RHOBTB2_uc011kzp.1_Missense_Mutation_p.R706Q|uc003xcr.2_Intron	p.R699Q	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	10	2633	+		Prostate(55;0.0513)|Breast(100;0.214)	699					A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	c.2096G>A	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	g	34	5.297892	0.95574	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.10099	2.91;2.92;2.92	5.66	4.78	0.61160	.	0.052529	0.64402	D	0.000001	T	0.29716	0.0742	M	0.63428	1.95	0.49915	D	0.999833	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.01378	-1.1370	10	0.38643	T	0.18	.	14.7836	0.69784	0.0:0.0:0.8546:0.1454	.	706;699;721	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	Q	721;706;699	ENSP00000427926:R721Q;ENSP00000429141:R706Q;ENSP00000251822:R699Q	ENSP00000251822:R699Q	R	+	2	0	RHOBTB2	22930839	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.826000	0.75298	1.378000	0.46305	0.655000	0.94253	CGG		PASS	0.607	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			11	43	11	43	---	---	---	---
LOXL2	4017	broad.mit.edu	37	8	23225700	23225700	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:23225700C>A	ENST00000389131.3	-	2	534	c.165G>T	c.(163-165)aaG>aaT	p.K55N	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	55					aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)	p.K55N(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GCAGCTGAATCTTGGCCACGT	0.627																																						uc003xdh.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(163-165)AAG>AAT		lysyl oxidase-like 2 precursor							54.0	52.0	53.0					8																	23225700		2203	4300	6503	SO:0001583	missense	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23225700C>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.165G>T	8.37:g.23225700C>A	ENSP00000373783:p.Lys55Asn						p.K55N	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	2	504	-		Prostate(55;0.0453)|Breast(100;0.143)	55					B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.165G>T	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911748	0.33721	.	.	ENSG00000134013	ENST00000389131;ENST00000524144;ENST00000520871;ENST00000518083;ENST00000524168;ENST00000519243	T;T;T;T;T;T	0.10288	5.13;4.84;4.84;4.62;4.44;2.89	5.5	3.69	0.42338	Speract/scavenger receptor-related (1);	0.243853	0.47455	D	0.000223	T	0.10465	0.0256	L	0.56769	1.78	0.39035	D	0.960023	B	0.27068	0.167	B	0.26202	0.067	T	0.13899	-1.0492	10	0.21540	T	0.41	.	6.9833	0.24715	0.1432:0.7052:0.0:0.1516	.	55	Q9Y4K0	LOXL2_HUMAN	N	55;136;96;55;55;55	ENSP00000373783:K55N;ENSP00000427883:K136N;ENSP00000429778:K96N;ENSP00000430519:K55N;ENSP00000428497:K55N;ENSP00000428933:K55N	ENSP00000373783:K55N	K	-	3	2	LOXL2	23281645	0.999000	0.42202	0.981000	0.43875	0.066000	0.16364	0.823000	0.27366	0.782000	0.33613	-0.311000	0.09066	AAG		PASS	0.627	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			4	77	4	77	---	---	---	---
ADAM7	8756	broad.mit.edu	37	8	24304766	24304766	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:24304766T>G	ENST00000175238.6	+	3	307	c.224T>G	c.(223-225)cTa>cGa	p.L75R	ADAM7_ENST00000380789.1_Missense_Mutation_p.L75R|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.L75R	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L75R(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CTTCATCTTCTAAGATCCAGG	0.328																																						uc003xeb.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|kidney(1)	5						c.(223-225)CTA>CGA		a disintegrin and metalloproteinase domain 7							94.0	100.0	98.0					8																	24304766		2203	4300	6503	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24304766T>G	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.224T>G	8.37:g.24304766T>G	ENSP00000175238:p.Leu75Arg					ADAM7_uc003xea.1_Missense_Mutation_p.L75R	p.L75R	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	3	337	+		Prostate(55;0.0181)	75			Extracellular (Potential).		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.224T>G	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	T	4.858	0.159537	0.09236	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.05319	3.46;3.46;3.46	4.04	4.04	0.47022	Peptidase M12B, propeptide (1);	1.100870	0.07130	N	0.845410	T	0.11623	0.0283	N	0.17723	0.515	0.80722	D	1	B;D	0.69078	0.094;0.997	B;D	0.68621	0.062;0.959	T	0.31364	-0.9946	10	0.14656	T	0.56	.	9.6329	0.39789	0.0:0.0:0.0:1.0	.	75;75	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	R	75	ENSP00000393073:L75R;ENSP00000175238:L75R;ENSP00000370166:L75R	ENSP00000175238:L75R	L	+	2	0	ADAM7	24360656	0.973000	0.33851	0.920000	0.36463	0.970000	0.65996	1.721000	0.38032	2.050000	0.60909	0.533000	0.62120	CTA		PASS	0.328	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		66	91	66	91	---	---	---	---
DOCK5	80005	broad.mit.edu	37	8	25224446	25224446	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:25224446G>C	ENST00000276440.7	+	31	3228	c.3184G>C	c.(3184-3186)Gaa>Caa	p.E1062Q		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1062					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.E1062Q(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)		CCTTCAGCTTGAAACCTTCTC	0.383																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3184-3186)GAA>CAA		dedicator of cytokinesis 5							92.0	85.0	87.0					8																	25224446		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25224446G>C		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.3184G>C	8.37:g.25224446G>C	ENSP00000276440:p.Glu1062Gln					DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.E776Q|DOCK5_uc003xei.2_Missense_Mutation_p.E632Q|DOCK5_uc003xej.2_RNA	p.E1062Q	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)	31	3321	+		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)	1062					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.3184G>C	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.405043|4.405043	0.83230|0.83230	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.56103|.	0.48|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.051475|.	0.85682|.	D|.	0.000000|.	D|.	0.85362|.	0.5679|.	M|M	0.88979|0.88979	2.995|2.995	0.80722|0.80722	D|D	1|1	P;B;P|.	0.35944|.	0.529;0.386;0.529|.	B;B;B|.	0.38921|.	0.285;0.21;0.285|.	D|.	0.86284|.	0.1669|.	10|.	0.72032|.	D|.	0.01|.	.|.	20.3931|20.3931	0.98965|0.98965	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1052;837;1062|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	Q|S	1062|833	ENSP00000276440:E1062Q|.	ENSP00000276440:E1062Q|.	E|X	+|+	1|2	0|2	DOCK5|DOCK5	25280363|25280363	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.790000|7.790000	0.85794|0.85794	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GAA|TGA		PASS	0.383	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		26	50	26	50	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52258506	52258506	+	Splice_Site	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:52258506G>T	ENST00000356297.4	-	20	4003	c.3903C>A	c.(3901-3903)gaC>gaA	p.D1301E	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1301					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.D1301E(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TACTCCTACAGTCTGTGGGGA	0.433																																						uc003xqu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(3901-3903)GAC>GAA		peroxidasin homolog-like precursor							111.0	104.0	106.0					8																	52258506		1979	4166	6145	SO:0001630	splice_region_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52258506G>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3902-1C>A	8.37:g.52258506G>T						PXDNL_uc003xqt.3_Intron	p.D1301E	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			20	4004	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1301					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3903C>A	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.054|8.054	0.766568|0.766568	0.15983|0.15983	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297|ENST00000522933	T|.	0.64803|.	-0.12|.	4.25|4.25	3.36|3.36	0.38483|0.38483	.|.	.|.	.|.	.|.	.|.	T|T	0.60170|0.60170	0.2248|0.2248	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999999|0.999999	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.58323|0.58323	-0.7656|-0.7656	9|5	0.31617|.	T|.	0.26|.	.|.	8.3725|8.3725	0.32423|0.32423	0.1162:0.0:0.8838:0.0|0.1162:0.0:0.8838:0.0	.|.	1301|.	A1KZ92|.	PXDNL_HUMAN|.	E|N	1301|375	ENSP00000348645:D1301E|.	ENSP00000348645:D1301E|.	D|T	-|-	3|2	2|0	PXDNL|PXDNL	52421059|52421059	1.000000|1.000000	0.71417|0.71417	0.143000|0.143000	0.22291|0.22291	0.078000|0.078000	0.17371|0.17371	0.814000|0.814000	0.27239|0.27239	1.912000|1.912000	0.55364|0.55364	0.655000|0.655000	0.94253|0.94253	GAC|ACT		PASS	0.433	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	Missense_Mutation	42	90	42	90	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55541405	55541405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:55541405C>T	ENST00000220676.1	+	4	5111	c.4963C>T	c.(4963-4965)Cag>Tag	p.Q1655*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1655					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.Q1655*(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCGCAAATCTCAGGTTTGTCC	0.373																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Nonsense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(4963-4965)CAG>TAG		retinitis pigmentosa RP1 protein							111.0	116.0	114.0					8																	55541405		2203	4300	6503	SO:0001587	stop_gained	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541405C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4963C>T	8.37:g.55541405C>T	ENSP00000220676:p.Gln1655*					RP1_uc011ldy.1_Intron	p.Q1655*	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5111	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1655						Nonsense_Mutation	SNP	ENST00000220676.1	37	c.4963C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	41	9.072566	0.99057	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.86	3.86	0.44501	.	0.313649	0.23353	N	0.049116	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-8.2281	10.8021	0.46495	0.2025:0.6833:0.1142:0.0	.	.	.	.	X	1655	.	ENSP00000220676:Q1655X	Q	+	1	0	RP1	55703958	0.855000	0.29742	1.000000	0.80357	0.397000	0.30659	0.737000	0.26144	2.770000	0.95276	0.655000	0.94253	CAG		PASS	0.373	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		72	383	72	383	---	---	---	---
ASPH	444	broad.mit.edu	37	8	62556543	62556543	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:62556543G>A	ENST00000379454.4	-	8	857	c.670C>T	c.(670-672)Cag>Tag	p.Q224*	ASPH_ENST00000518068.1_Nonsense_Mutation_p.Q181*|ASPH_ENST00000541428.1_Nonsense_Mutation_p.Q195*|ASPH_ENST00000522835.1_Nonsense_Mutation_p.Q167*|ASPH_ENST00000517903.1_Nonsense_Mutation_p.Q210*|ASPH_ENST00000517847.2_Nonsense_Mutation_p.Q210*|ASPH_ENST00000445642.3_Nonsense_Mutation_p.Q210*|ASPH_ENST00000522919.1_Nonsense_Mutation_p.Q37*|ASPH_ENST00000356457.5_Nonsense_Mutation_p.Q224*|ASPH_ENST00000523897.1_5'Flank	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	224	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)	p.Q224*(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TCCATATCCTGATTACAGTCT	0.333																																						uc003xuj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(670-672)CAG>TAG		aspartate beta-hydroxylase isoform a	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						70.0	69.0	69.0					8																	62556543		2202	4298	6500	SO:0001587	stop_gained	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62556543G>A	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.670C>T	8.37:g.62556543G>A	ENSP00000368767:p.Gln224*					ASPH_uc011leg.1_Nonsense_Mutation_p.Q195*|ASPH_uc003xuo.2_Intron|ASPH_uc011leh.1_Intron|ASPH_uc003xul.2_Nonsense_Mutation_p.Q210*|ASPH_uc011lei.1_Nonsense_Mutation_p.Q210*|ASPH_uc011lej.1_Nonsense_Mutation_p.Q167*|ASPH_uc003xun.2_Nonsense_Mutation_p.Q181*|ASPH_uc011lek.1_Intron|ASPH_uc003xum.2_Nonsense_Mutation_p.Q224*	p.Q224*	NM_004318	NP_004309	Q12797	ASPH_HUMAN			8	939	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	224			Glu-rich.|Lumenal (Potential).		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Nonsense_Mutation	SNP	ENST00000379454.4	37	c.670C>T	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833036	0.50951	.	.	ENSG00000198363	ENST00000541428;ENST00000379454;ENST00000522919;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835	.	.	.	4.69	2.68	0.31781	.	0.586122	0.16161	N	0.226778	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-6.1819	9.1643	0.37041	0.0:0.0:0.5861:0.4139	.	.	.	.	X	195;224;37;224;239;181;210;210;210;167	.	ENSP00000348841:Q224X	Q	-	1	0	ASPH	62719097	0.009000	0.17119	0.040000	0.18447	0.083000	0.17756	0.516000	0.22817	1.271000	0.44313	0.655000	0.94253	CAG		PASS	0.333	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		23	56	23	56	---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67547206	67547206	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:67547206T>C	ENST00000310421.4	-	3	3457	c.3199A>G	c.(3199-3201)Aca>Gca	p.T1067A		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	1067					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.T1067A(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GAAGGCTCTGTTTTAGTGGAA	0.423																																					NSCLC(179;265 2915 6144 43644)	uc003xwn.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8						c.(3199-3201)ACA>GCA		valosin containing protein (p97)/p47 complex							132.0	131.0	131.0					8																	67547206		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67547206T>C	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.3199A>G	8.37:g.67547206T>C	ENSP00000309031:p.Thr1067Ala						p.T1067A	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		3	3458	-		Lung NSC(129;0.142)|all_lung(136;0.227)	1067					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.3199A>G	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	T	0.572	-0.840592	0.02692	.	.	ENSG00000175073	ENST00000310421	T	0.29397	1.57	6.08	4.88	0.63580	.	0.318671	0.38005	N	0.001844	T	0.19525	0.0469	N	0.24115	0.695	0.26230	N	0.979026	B	0.17038	0.02	B	0.16289	0.015	T	0.08249	-1.0731	10	0.41790	T	0.15	-4.1982	8.4393	0.32805	0.1904:0.0:0.1159:0.6937	.	1067	Q96JH7	VCIP1_HUMAN	A	1067	ENSP00000309031:T1067A	ENSP00000309031:T1067A	T	-	1	0	VCPIP1	67709760	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	1.511000	0.35801	2.333000	0.79357	0.482000	0.46254	ACA		PASS	0.423	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			86	238	86	238	---	---	---	---
C8orf44	56260	broad.mit.edu	37	8	67590034	67590034	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:67590034G>A	ENST00000519561.1	+	2	242	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	C8orf44_ENST00000390159.3_Missense_Mutation_p.E31K|C8orf44-SGK3_ENST00000520044.1_Intron|C8orf44-SGK3_ENST00000519289.1_Intron|C8orf44_ENST00000521889.1_Missense_Mutation_p.E31K	NM_019607.2	NP_062553.1	Q96CB5	CH044_HUMAN	chromosome 8 open reading frame 44	31						nucleus (GO:0005634)		p.E31K(1)|p.E31*(1)		endometrium(1)|kidney(1)|lung(2)	4	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGAGCACTTCGAAAACCACTG	0.557																																						uc003xwo.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(1)|endometrium(1)		0						c.(91-93)GAA>AAA		hypothetical protein LOC56260																																				SO:0001583	missense	56260							g.chr8:67590034G>A	AK002129	CCDS6193.1	8q13.1	2012-05-16		2005-08-09	ENSG00000213865	ENSG00000213865			25646	protein-coding gene	gene with protein product						12477932	Standard	NM_019607		Approved	FLJ11267	uc003xwo.2	Q96CB5	OTTHUMG00000164562	ENST00000519561.1:c.91G>A	8.37:g.67590034G>A	ENSP00000428002:p.Glu31Lys					SGK3_uc003xwp.2_Intron|C8orf44_uc003xwq.1_Missense_Mutation_p.E31K	p.E31K	NM_019607	NP_062553	Q96CB5	CH044_HUMAN	Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)		2	244	+	Breast(64;0.186)		31					Q9NUM6	Missense_Mutation	SNP	ENST00000519561.1	37	c.91G>A	CCDS6193.1	.	.	.	.	.	.	.	.	.	.	G	8.475	0.858371	0.17178	.	.	ENSG00000213865	ENST00000519561;ENST00000521889;ENST00000390159	T;T	0.38077	1.16;1.16	2.3	1.43	0.22495	.	.	.	.	.	T	0.13628	0.0330	N	0.02985	-0.445	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.26430	-1.0103	9	0.24483	T	0.36	.	5.2106	0.15314	0.1697:0.0:0.8303:0.0	.	31	Q96CB5	CH044_HUMAN	K	31	ENSP00000428002:E31K;ENSP00000375087:E31K	ENSP00000375087:E31K	E	+	1	0	C8orf44	67752588	0.624000	0.27102	0.006000	0.13384	0.009000	0.06853	0.369000	0.20416	0.575000	0.29434	-0.203000	0.12734	GAA		PASS	0.557	C8orf44-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379242.2	NM_019607		32	56	32	56	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767033	77767033	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:77767033C>T	ENST00000521891.2	+	10	8324	c.7876C>T	c.(7876-7878)Ctg>Ttg	p.L2626L	ZFHX4_ENST00000518282.1_Silent_p.L2600L|ZFHX4_ENST00000455469.2_Silent_p.L2581L|ZFHX4_ENST00000050961.6_Silent_p.L2581L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2581					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.L2610L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAATACTTGCTGGATTCCAA	0.473										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7741-7743)CTG>TTG		zinc finger homeodomain 4							39.0	39.0	39.0					8																	77767033		1860	4092	5952	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767033C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7876C>T	8.37:g.77767033C>T		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.L2626L|ZFHX4_uc003yaw.1_Silent_p.L2581L	p.L2581L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8128	+			2581			Homeobox 3.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.7741C>T	CCDS47878.2																																																																																				PASS	0.473	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		12	63	12	63	---	---	---	---
IMPA1	3612	broad.mit.edu	37	8	82592931	82592931	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:82592931C>G	ENST00000256108.5	-	3	616	c.151G>C	c.(151-153)Gaa>Caa	p.E51Q	IMPA1_ENST00000449740.2_Missense_Mutation_p.E110Q|IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000311489.4_Missense_Mutation_p.E51Q	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	51					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)	p.E110Q(1)|p.E51Q(1)		NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	AGCATTTTTTCAACTTTTTGG	0.323																																						uc003ych.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(151-153)GAA>CAA		inositol(myo)-1(or 4)-monophosphatase 1 isoform	Lithium(DB01356)						99.0	98.0	98.0					8																	82592931		2202	4300	6502	SO:0001583	missense	3612				inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	g.chr8:82592931C>G		CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.151G>C	8.37:g.82592931C>G	ENSP00000256108:p.Glu51Gln					IMPA1_uc011lfq.1_Missense_Mutation_p.E110Q|IMPA1_uc011lfr.1_Missense_Mutation_p.E51Q	p.E51Q	NM_005536	NP_005527	P29218	IMPA1_HUMAN			3	278	-			51					B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Missense_Mutation	SNP	ENST00000256108.5	37	c.151G>C	CCDS6231.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.495383|4.495383	0.85069|0.85069	.|.	.|.	ENSG00000133731|ENSG00000133731	ENST00000256108;ENST00000311489;ENST00000449740;ENST00000519964;ENST00000521360;ENST00000522997;ENST00000518202|ENST00000523942	T;T;T;T;T;T;T|.	0.52754|.	0.65;0.66;0.65;0.66;0.66;0.66;0.66|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.84243|.	0.5429|.	M|M	0.90145|0.90145	3.09|3.09	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.80764|.	0.994;0.992;0.988|.	D|.	0.87733|.	0.2580|.	10|.	0.87932|.	D|.	0|.	-29.4007|-29.4007	17.6025|17.6025	0.88029|0.88029	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	51;110;51|.	B4DLN3;B7Z6Q4;P29218|.	.;.;IMPA1_HUMAN|.	Q|S	51;51;110;43;51;110;51|75	ENSP00000256108:E51Q;ENSP00000311803:E51Q;ENSP00000408526:E110Q;ENSP00000429322:E43Q;ENSP00000430283:E51Q;ENSP00000430081:E110Q;ENSP00000429516:E51Q|.	ENSP00000256108:E51Q|.	E|X	-|-	1|2	0|2	IMPA1|IMPA1	82755486|82755486	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.245000|7.245000	0.78237|0.78237	2.297000|2.297000	0.77311|0.77311	0.542000|0.542000	0.68232|0.68232	GAA|TGA		PASS	0.323	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379723.1			6	148	6	148	---	---	---	---
LRRCC1	85444	broad.mit.edu	37	8	86047240	86047240	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:86047240G>A	ENST00000360375.3	+	13	2276	c.2127G>A	c.(2125-2127)ttG>ttA	p.L709L	LRRCC1_ENST00000414626.2_Silent_p.L689L	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	709					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L689L(1)|p.L709L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TTTCTAAATTGAAACAAGAAA	0.299																																						uc003ycw.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(2125-2127)TTG>TTA		sodium channel associated protein 2 isoform a							62.0	62.0	62.0					8																	86047240		1792	4052	5844	SO:0001819	synonymous_variant	85444				cell division|mitosis	centriole|nucleus		g.chr8:86047240G>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2127G>A	8.37:g.86047240G>A						LRRCC1_uc010maa.1_Silent_p.L410L|LRRCC1_uc003ycx.2_Silent_p.L616L|LRRCC1_uc003ycy.2_Silent_p.L689L	p.L709L	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			13	2281	+			709					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Silent	SNP	ENST00000360375.3	37	c.2127G>A	CCDS43750.1																																																																																				PASS	0.299	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		12	206	12	206	---	---	---	---
TMEM67	91147	broad.mit.edu	37	8	94777642	94777642	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:94777642G>A	ENST00000453321.3	+	5	573	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	TMEM67_ENST00000409623.3_Missense_Mutation_p.R91Q	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	172			R -> Q (in COACHS). {ECO:0000269|PubMed:19574260}.		cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)	p.R162Q(1)|p.R172Q(1)		breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AGGTGCGTCCGATGTGAGCCA	0.289																																						uc011lgk.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(514-516)CGA>CAA		meckelin isoform 1							67.0	70.0	69.0					8																	94777642		2203	4300	6503	SO:0001583	missense	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94777642G>A	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.515G>A	8.37:g.94777642G>A	ENSP00000389998:p.Arg172Gln					TMEM67_uc010mat.1_Missense_Mutation_p.R87Q|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.3_Missense_Mutation_p.R91Q	p.R172Q	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		5	586	+	Breast(36;4.14e-07)		172		R -> Q (in COACHS).			B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	c.515G>A	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381922	0.82792	.	.	ENSG00000164953	ENST00000452276;ENST00000453321;ENST00000518319;ENST00000409623	D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27	5.82	4.02	0.46733	Growth factor, receptor (1);	0.058894	0.64402	D	0.000003	D	0.97511	0.9185	L	0.56769	1.78	0.51012	D	0.9999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.96704	0.9520	10	0.49607	T	0.09	-1.7628	10.9205	0.47161	0.148:0.0:0.852:0.0	.	172;91	Q5HYA8;G5E9H2	MKS3_HUMAN;.	Q	69;172;12;91	ENSP00000388671:R69Q;ENSP00000389998:R172Q;ENSP00000430289:R12Q;ENSP00000386966:R91Q	ENSP00000314488:R162Q	R	+	2	0	TMEM67	94846818	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.295000	0.43576	0.790000	0.33803	0.655000	0.94253	CGA		PASS	0.289	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		5	111	5	111	---	---	---	---
GEM	2669	broad.mit.edu	37	8	95272461	95272461	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:95272461G>A	ENST00000297596.2	-	2	535	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	GEM_ENST00000396194.2_Silent_p.L91L	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	91					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.L91L(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			ATGTTGGCCAGAGTGGACTTG	0.597																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	uc003ygj.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(271-273)CTG>TTG		GTP-binding mitogen-induced T-cell protein							101.0	95.0	97.0					8																	95272461		2203	4300	6503	SO:0001819	synonymous_variant	2669				cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	g.chr8:95272461G>A		CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"""kinase-inducible Ras-like protein"""	600164	"""GTP-binding protein overexpressed in skeletal muscle"""			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.271C>T	8.37:g.95272461G>A						GEM_uc003ygi.2_Silent_p.L91L	p.L91L	NM_005261	NP_005252	P55040	GEM_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		2	520	-	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	91					B2RA31	Silent	SNP	ENST00000297596.2	37	c.271C>T	CCDS6261.1																																																																																				PASS	0.597	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702		33	112	33	112	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110420406	110420406	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:110420406C>A	ENST00000378402.5	+	18	2046	c.1942C>A	c.(1942-1944)Cca>Aca	p.P648T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	648					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P650T(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CGCTTCTAAGCCACTCACTCT	0.443										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(1942-1944)CCA>ACA		fibrocystin L precursor							113.0	114.0	113.0					8																	110420406		1960	4156	6116	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110420406C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1942C>A	8.37:g.110420406C>A	ENSP00000367655:p.Pro648Thr	HNSCC(38;0.096)					p.P648T	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		18	2046	+			648			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1942C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005427	0.35415	.	.	ENSG00000205038	ENST00000378402	D	0.86865	-2.18	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.87042	0.6079	M	0.76002	2.32	0.47994	D	0.999561	B	0.31837	0.342	B	0.25884	0.064	D	0.86186	0.1609	10	0.72032	D	0.01	.	17.9326	0.89002	0.0:1.0:0.0:0.0	.	648	Q86WI1	PKHL1_HUMAN	T	648	ENSP00000367655:P648T	ENSP00000367655:P648T	P	+	1	0	PKHD1L1	110489582	0.998000	0.40836	0.881000	0.34555	0.011000	0.07611	4.945000	0.63568	2.836000	0.97738	0.655000	0.94253	CCA		PASS	0.443	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		33	98	33	98	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113275877	113275877	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:113275877G>T	ENST00000297405.5	-	61	10097	c.9853C>A	c.(9853-9855)Cag>Aag	p.Q3285K	CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3245K|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3215K|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3116K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3285	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q3285K(1)|p.Q3245K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGTAAGCACTGCGGTACTTCA	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9853-9855)CAG>AAG		CUB and Sushi multiple domains 3 isoform 1							85.0	72.0	76.0					8																	113275877		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113275877G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9853C>A	8.37:g.113275877G>T	ENSP00000297405:p.Gln3285Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.Q2487K|CSMD3_uc003ynt.2_Missense_Mutation_p.Q3245K|CSMD3_uc011lhx.1_Missense_Mutation_p.Q3116K	p.Q3285K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			61	10012	-			3285			Sushi 25.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9853C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874231	0.91664	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.73385	0.3580	L	0.43646	1.37	0.80722	D	1	D;D;D	0.58268	0.976;0.981;0.982	P;D;D	0.70227	0.897;0.928;0.968	T	0.67059	-0.5766	10	0.26408	T	0.33	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	3116;3285;3245	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	3245;3285;2555;3116;3215	ENSP00000345799:Q3245K;ENSP00000297405:Q3285K;ENSP00000341558:Q2555K;ENSP00000412263:Q3116K;ENSP00000343124:Q3215K	ENSP00000297405:Q3285K	Q	-	1	0	CSMD3	113345053	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.860000	0.99555	2.713000	0.92767	0.655000	0.94253	CAG		PASS	0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		26	41	26	41	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113569139	113569139	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:113569139C>A	ENST00000297405.5	-	25	4331	c.4087G>T	c.(4087-4089)Gga>Tga	p.G1363*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G1323*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G1363*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G1259*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1363	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1323*(1)|p.G1363*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCTTGTATCCAAATTGTGGA	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(4087-4089)GGA>TGA		CUB and Sushi multiple domains 3 isoform 1							92.0	84.0	87.0					8																	113569139		2203	4299	6502	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113569139C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4087G>T	8.37:g.113569139C>A	ENSP00000297405:p.Gly1363*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.G635*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.G1323*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.G1259*	p.G1363*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			25	4246	-			1363			Extracellular (Potential).|Sushi 7.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.4087G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	46	12.230080	0.99648	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	18.4062	0.90536	0.0:1.0:0.0:0.0	.	.	.	.	X	1323;1363;703;1259;1363	.	ENSP00000297405:G1363X	G	-	1	0	CSMD3	113638315	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.579000	0.87056	0.655000	0.94253	GGA		PASS	0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		36	106	36	106	---	---	---	---
COL14A1	7373	broad.mit.edu	37	8	121322262	121322262	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:121322262C>T	ENST00000297848.3	+	37	4686	c.4416C>T	c.(4414-4416)ctC>ctT	p.L1472L	COL14A1_ENST00000309791.4_Silent_p.L1472L|COL14A1_ENST00000247781.3_Silent_p.L1377L	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.L1472L(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GTCCAGGACTCCGAGGACCAA	0.423																																						uc003yox.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(4414-4416)CTC>CTT		collagen, type XIV, alpha 1 precursor							151.0	140.0	144.0					8																	121322262		2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121322262C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4416C>T	8.37:g.121322262C>T						COL14A1_uc003yoz.2_Silent_p.L437L	p.L1472L	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		37	4681	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1472			Triple-helical region 1 (COL2).			Silent	SNP	ENST00000297848.3	37	c.4416C>T	CCDS34938.1																																																																																				PASS	0.423	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		45	116	45	116	---	---	---	---
ZHX2	22882	broad.mit.edu	37	8	123964707	123964707	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:123964707C>T	ENST00000314393.4	+	3	1792	c.957C>T	c.(955-957)atC>atT	p.I319I		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	319	Required for homodimerization.|Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.I319I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AGCATGGCATCAGCTGGTCCC	0.597																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	uc003ypk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(955-957)ATC>ATT		zinc fingers and homeoboxes 2							94.0	85.0	88.0					8																	123964707		2203	4300	6503	SO:0001819	synonymous_variant	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123964707C>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.957C>T	8.37:g.123964707C>T							p.I319I	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1524	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		319			Required for interaction with NFYA.|Required for homodimerization.|Required for repressor activity.|Required for nuclear localization.|Homeobox 1.			Silent	SNP	ENST00000314393.4	37	c.957C>T	CCDS6336.1																																																																																				PASS	0.597	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		12	198	12	198	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124359338	124359338	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:124359338C>G	ENST00000287394.5	-	16	2313	c.2206G>C	c.(2206-2208)Gac>Cac	p.D736H	ATAD2_ENST00000521903.1_Missense_Mutation_p.D54H|MIR548AA1_ENST00000384971.2_RNA	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	736					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D736H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATACCTGAGTCTAATGTTTTA	0.318																																						uc003yqh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2206-2208)GAC>CAC		ATPase family, AAA domain containing 2							79.0	80.0	80.0					8																	124359338		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124359338C>G	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2206G>C	8.37:g.124359338C>G	ENSP00000287394:p.Asp736His					ATAD2_uc011lii.1_Missense_Mutation_p.D527H|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.D736H	p.D736H	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		16	2314	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		736					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.2206G>C	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239131	0.22711	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;T	0.91894	-2.93;1.48	5.49	1.53	0.23141	.	0.702581	0.14043	N	0.345265	D	0.83229	0.5209	N	0.19112	0.55	0.19300	N	0.999976	B	0.02656	0.0	B	0.04013	0.001	T	0.71784	-0.4488	10	0.45353	T	0.12	-4.6246	6.6664	0.23042	0.0:0.42:0.3448:0.2352	.	736	Q6PL18	ATAD2_HUMAN	H	736;54	ENSP00000287394:D736H;ENSP00000429213:D54H	ENSP00000287394:D736H	D	-	1	0	ATAD2	124428519	0.237000	0.23815	0.849000	0.33467	0.955000	0.61496	0.629000	0.24538	0.326000	0.23384	0.591000	0.81541	GAC		PASS	0.318	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		34	161	34	161	---	---	---	---
WDYHV1	55093	broad.mit.edu	37	8	124453564	124453564	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:124453564A>G	ENST00000287387.2	+	6	652	c.527A>G	c.(526-528)aAc>aGc	p.N176S	WDYHV1_ENST00000518125.1_Missense_Mutation_p.N28S|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523984.1_Missense_Mutation_p.N116S|WDYHV1_ENST00000523356.1_3'UTR	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	176					cellular protein modification process (GO:0006464)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein-N-terminal glutamine amidohydrolase activity (GO:0070773)	p.N176S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						ATGAACCTGAACGATTTCATC	0.368																																						uc003yqn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(526-528)AAC>AGC		WDYHV motif containing 1							55.0	47.0	50.0					8																	124453564		2203	4300	6503	SO:0001583	missense	55093				protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	g.chr8:124453564A>G	AK001066	CCDS6344.1, CCDS64965.1	8q24.13	2008-10-01	2008-10-01	2008-10-01		ENSG00000156795			25490	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 32"""	C8orf32		12477932	Standard	NM_018024		Approved	FLJ10204	uc003yqn.1	Q96HA8		ENST00000287387.2:c.527A>G	8.37:g.124453564A>G	ENSP00000287387:p.Asn176Ser					WDYHV1_uc011lij.1_Missense_Mutation_p.N116S|WDYHV1_uc003yqo.1_RNA	p.N176S	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN			6	652	+			176					B4DE68|Q9NW95	Missense_Mutation	SNP	ENST00000287387.2	37	c.527A>G	CCDS6344.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.566319	0.45694	.	.	ENSG00000156795	ENST00000287387;ENST00000523984;ENST00000518125	T;T;T	0.16457	2.34;2.34;2.34	6.02	6.02	0.97574	Protein N-terminal glutamine amidohydrolase, alpha beta roll (1);Protein N-terminal glutamine amidohydrolase (1);	0.143174	0.64402	D	0.000010	T	0.13286	0.0322	L	0.31578	0.945	0.51767	D	0.999939	B	0.11235	0.004	B	0.10450	0.005	T	0.07347	-1.0777	10	0.40728	T	0.16	-36.0153	9.9402	0.41576	0.9238:0.0:0.0762:0.0	.	176	Q96HA8	NTAQ1_HUMAN	S	176;116;28	ENSP00000287387:N176S;ENSP00000430427:N116S;ENSP00000429258:N28S	ENSP00000287387:N176S	N	+	2	0	WDYHV1	124522745	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.097000	0.71452	2.311000	0.77944	0.533000	0.62120	AAC		PASS	0.368	WDYHV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381772.1	NM_018024		12	27	12	27	---	---	---	---
FAM91A1	157769	broad.mit.edu	37	8	124818395	124818395	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:124818395G>A	ENST00000334705.7	+	20	2204	c.1958G>A	c.(1957-1959)tGt>tAt	p.C653Y	FAM91A1_ENST00000521166.1_Missense_Mutation_p.C653Y	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	653								p.C653Y(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CAGCATCTCTGTGGATATGTC	0.418																																						uc003yqv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1957-1959)TGT>TAT		hypothetical protein LOC157769							186.0	163.0	170.0					8																	124818395		1913	4131	6044	SO:0001583	missense	157769							g.chr8:124818395G>A	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.1958G>A	8.37:g.124818395G>A	ENSP00000335082:p.Cys653Tyr					FAM91A1_uc011lik.1_Missense_Mutation_p.C653Y|FAM91A1_uc011lil.1_Missense_Mutation_p.C411Y	p.C653Y	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		20	2019	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		653					B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	c.1958G>A	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572612	0.86542	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.36878	1.23;1.23	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.64371	0.2592	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.994;0.999	T	0.66626	-0.5876	10	0.66056	D	0.02	.	19.6685	0.95901	0.0:0.0:1.0:0.0	.	653;653	E7ER68;Q658Y4	.;F91A1_HUMAN	Y	653	ENSP00000429491:C653Y;ENSP00000335082:C653Y	ENSP00000335082:C653Y	C	+	2	0	FAM91A1	124887576	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.240000	0.95396	2.639000	0.89480	0.655000	0.94253	TGT		PASS	0.418	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		18	389	18	389	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	124992974	124992974	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:124992974G>A	ENST00000522917.1	+	11	1539	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N	FER1L6_ENST00000399018.1_Missense_Mutation_p.D445N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	445						integral component of membrane (GO:0016021)		p.D445N(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)			CAAAACTGAAGATGGAAAATC	0.468											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003yqw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(1333-1335)GAT>AAT		fer-1-like 6							45.0	46.0	46.0					8																	124992974		1863	4102	5965	SO:0001583	missense	654463					integral to membrane		g.chr8:124992974G>A	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.1333G>A	8.37:g.124992974G>A	ENSP00000428280:p.Asp445Asn		OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1538		p.D445N	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		11	1539	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		445			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.1333G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	7.745	0.702154	0.15172	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.83075	-1.68;-1.68	5.53	3.73	0.42828	.	0.414784	0.18961	U	0.126387	T	0.70465	0.3227	L	0.44542	1.39	0.35920	D	0.83172	P	0.38922	0.651	B	0.25140	0.058	T	0.69439	-0.5145	10	0.17832	T	0.49	.	11.2805	0.49192	0.0686:0.1275:0.8039:0.0	.	445	Q2WGJ9	FR1L6_HUMAN	N	445	ENSP00000428280:D445N;ENSP00000381982:D445N	ENSP00000381982:D445N	D	+	1	0	FER1L6	125062155	1.000000	0.71417	0.001000	0.08648	0.042000	0.13812	5.385000	0.66231	0.697000	0.31718	0.655000	0.94253	GAT		PASS	0.468	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		26	101	26	101	---	---	---	---
MYC	4609	broad.mit.edu	37	8	128750739	128750739	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:128750739C>G	ENST00000259523.6	+	2	1436	c.231C>G	c.(229-231)gtC>gtG	p.V77V	MYC_ENST00000377970.2_Silent_p.V92V|MYC_ENST00000524013.1_Silent_p.V91V			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	77					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.V77V(1)|p.V92V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	ACGTTGCGGTCACACCCTTCT	0.672		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ysh.1		3		Dom	yes		8	8q24.12-q24.13	4609	A|T	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@		Burkitt lymphoma| amplified in other cancers|B-CLL		2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6						c.(229-231)GTC>GTG		myc proto-oncogene protein							25.0	26.0	25.0					8																	128750739		2203	4300	6503	SO:0001819	synonymous_variant	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128750739C>G		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.231C>G	8.37:g.128750739C>G			OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567	MYC_uc003ysi.2_Silent_p.V92V	p.V77V	NM_002467	NP_002458	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	3	744	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	77					A8WFE7|P01107|Q14026	Silent	SNP	ENST00000259523.6	37	c.231C>G																																																																																					PASS	0.672	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			3	43	3	43	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131826458	131826458	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:131826458G>A	ENST00000286355.5	-	14	4862	c.2770C>T	c.(2770-2772)Cgc>Tgc	p.R924C	ADCY8_ENST00000377928.3_Missense_Mutation_p.R793C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	924					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|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)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.R924C(1)|p.R924G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGTCCAGGCGGGCTGTGTAC	0.507										HNSCC(32;0.087)																												uc003ytd.3																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2770-2772)CGC>TGC		adenylate cyclase 8							135.0	108.0	117.0					8																	131826458		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131826458G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2770C>T	8.37:g.131826458G>A	ENSP00000286355:p.Arg924Cys	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.R793C	p.R924C	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		14	3026	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		924			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.2770C>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079468	0.76528	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.86097	-2.07;-1.72	5.87	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.92938	0.7753	M	0.90650	3.135	0.45330	D	0.99832	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.93269	0.6650	10	0.87932	D	0	.	12.0088	0.53276	0.0:0.0:0.7613:0.2387	.	793;924	E7EVL1;P40145	.;ADCY8_HUMAN	C	924;793	ENSP00000286355:R924C;ENSP00000367161:R793C	ENSP00000286355:R924C	R	-	1	0	ADCY8	131895640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.532000	0.45659	2.941000	0.99782	0.655000	0.94253	CGC		PASS	0.507	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			36	159	36	159	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139164351	139164351	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:139164351C>A	ENST00000395297.1	-	13	2537	c.2367G>T	c.(2365-2367)aaG>aaT	p.K789N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	789								p.K789N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATCTTGCTGCTTGGTGTCCG	0.522										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(2365-2367)AAG>AAT		hypothetical protein LOC51059							50.0	49.0	49.0					8																	139164351		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139164351C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2367G>T	8.37:g.139164351C>A	ENSP00000378710:p.Lys789Asn	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.K690N|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.K351N|FAM135B_uc003yvb.2_Missense_Mutation_p.K351N	p.K789N	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2538	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		789					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2367G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	10.04	1.240242	0.22711	.	.	ENSG00000147724	ENST00000395297	T	0.14022	2.54	5.43	-1.41	0.08941	.	1.629790	0.02444	N	0.084885	T	0.07007	0.0178	N	0.14661	0.345	0.09310	N	1	B;B;B	0.29805	0.257;0.157;0.057	B;B;B	0.29077	0.098;0.069;0.023	T	0.20638	-1.0269	10	0.16896	T	0.51	0.2306	1.8792	0.03225	0.1076:0.2622:0.2534:0.3768	.	789;789;789	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	N	789	ENSP00000378710:K789N	ENSP00000276737:K789N	K	-	3	2	FAM135B	139233533	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.484000	0.22308	0.012000	0.14892	-0.169000	0.13324	AAG		PASS	0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		37	76	37	76	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139165196	139165196	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:139165196G>A	ENST00000395297.1	-	13	1692	c.1522C>T	c.(1522-1524)Caa>Taa	p.Q508*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	508								p.Q508*(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCTTTGTTTTGAAATTCACCA	0.438										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(7)|skin(2)	9						c.(1522-1524)CAA>TAA		hypothetical protein LOC51059							133.0	127.0	129.0					8																	139165196		1953	4147	6100	SO:0001587	stop_gained	51059							g.chr8:139165196G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1522C>T	8.37:g.139165196G>A	ENSP00000378710:p.Gln508*	HNSCC(54;0.14)				FAM135B_uc003yux.2_Nonsense_Mutation_p.Q409*|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Nonsense_Mutation_p.Q70*|FAM135B_uc003yvb.2_Nonsense_Mutation_p.Q70*	p.Q508*	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1693	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		508					B5MDB3|O95879|Q2WGJ7|Q3KP46	Nonsense_Mutation	SNP	ENST00000395297.1	37	c.1522C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	37	6.133164	0.97310	.	.	ENSG00000147724	ENST00000395297	.	.	.	5.22	5.22	0.72569	.	0.790166	0.11921	N	0.516705	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-9.2218	13.6659	0.62396	0.0:0.1545:0.8455:0.0	.	.	.	.	X	508	.	ENSP00000276737:Q508X	Q	-	1	0	FAM135B	139234378	1.000000	0.71417	0.631000	0.29282	0.210000	0.24377	4.418000	0.59828	2.725000	0.93324	0.655000	0.94253	CAA		PASS	0.438	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		14	253	14	253	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139675958	139675958	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:139675958T>C	ENST00000303045.6	-	42	3622	c.3176A>G	c.(3175-3177)aAa>aGa	p.K1059R	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.K1039R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1059	Collagen-like 9.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.K1059R(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CGGGGATCCTTTGTCTCCTGG	0.423										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(3175-3177)AAA>AGA		collagen, type XXII, alpha 1							120.0	120.0	120.0					8																	139675958		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139675958T>C	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3176A>G	8.37:g.139675958T>C	ENSP00000303153:p.Lys1059Arg	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.K339R	p.K1059R	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		42	3623	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1059			Pro-rich.|Gly-rich.|Collagen-like 9.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3176A>G	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	T	7.886	0.731266	0.15507	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.97831	-4.56;-4.56	4.5	1.95	0.26073	.	0.257500	0.26788	U	0.022482	D	0.95903	0.8666	L	0.35854	1.095	0.26033	N	0.981718	P;D	0.55605	0.906;0.972	P;P	0.57425	0.52;0.82	D	0.90213	0.4266	10	0.10636	T	0.68	.	8.581	0.33628	0.0:0.0:0.3812:0.6188	.	1039;1059	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	R	1059;1039;752	ENSP00000303153:K1059R;ENSP00000387655:K1039R	ENSP00000303153:K1059R	K	-	2	0	COL22A1	139745140	1.000000	0.71417	0.952000	0.39060	0.702000	0.40608	0.700000	0.25601	0.293000	0.22520	0.482000	0.46254	AAA		PASS	0.423	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		8	168	8	168	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139890135	139890135	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:139890135G>C	ENST00000303045.6	-	3	962	c.516C>G	c.(514-516)atC>atG	p.I172M	COL22A1_ENST00000435777.1_Missense_Mutation_p.I172M	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	172	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.I172M(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCACGGCAAAGATGCGGATGC	0.682										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(514-516)ATC>ATG		collagen, type XXII, alpha 1							17.0	18.0	18.0					8																	139890135		2201	4299	6500	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890135G>C	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.516C>G	8.37:g.139890135G>C	ENSP00000303153:p.Ile172Met	HNSCC(7;0.00092)					p.I172M	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	963	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		172			VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.516C>G	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389011	0.25118	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.84298	-1.83;-1.83	5.3	0.00712	0.14070	von Willebrand factor, type A (3);	0.406531	0.20128	N	0.098656	T	0.75049	0.3797	L	0.43757	1.38	0.34637	D	0.72022	B	0.24186	0.099	B	0.27887	0.084	T	0.64296	-0.6441	9	.	.	.	.	5.3583	0.16073	0.1982:0.0:0.3605:0.4413	.	172	Q8NFW1	COMA1_HUMAN	M	172	ENSP00000303153:I172M;ENSP00000387655:I172M	.	I	-	3	3	COL22A1	139959317	1.000000	0.71417	0.983000	0.44433	0.180000	0.23129	0.771000	0.26633	-0.036000	0.13669	-2.051000	0.00406	ATC		PASS	0.682	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		4	9	4	9	---	---	---	---
ZC3H3	23144	broad.mit.edu	37	8	144620616	144620616	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:144620616C>T	ENST00000262577.5	-	2	952	c.921G>A	c.(919-921)cgG>cgA	p.R307R		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	307					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.R307R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			AGTTGTTTTTCCGGAACTTGT	0.632																																						uc003yyd.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(919-921)CGG>CGA		zinc finger CCCH-type containing 3							95.0	102.0	100.0					8																	144620616		2203	4299	6502	SO:0001819	synonymous_variant	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144620616C>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.921G>A	8.37:g.144620616C>T							p.R307R	NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	950	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		307					Q14163|Q8N4E2|Q9BUS4	Silent	SNP	ENST00000262577.5	37	c.921G>A	CCDS6402.1																																																																																				PASS	0.632	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		13	274	13	274	---	---	---	---
MROH1	727957	broad.mit.edu	37	8	145246714	145246714	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:145246714C>T	ENST00000528919.1	+	8	932	c.811C>T	c.(811-813)Ctc>Ttc	p.L271F	MROH1_ENST00000326134.5_Missense_Mutation_p.L271F|MROH1_ENST00000534366.1_Missense_Mutation_p.L271F|MROH1_ENST00000398656.4_Missense_Mutation_p.L271F|MROH1_ENST00000423230.2_Missense_Mutation_p.L271F	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1	271								p.L271F(1)									CCCTGGGATTCTCGCCCTCTA	0.607																																						uc003zbk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(811-813)CTC>TTC		HEAT repeat containing 7A isoform 1							50.0	55.0	53.0					8																	145246714		2072	4205	6277	SO:0001583	missense	727957						binding	g.chr8:145246714C>T		CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"""maestro heat-like repeat containing"""	26958	protein-coding gene	gene with protein product			"""HEAT repeat containing 7A"""	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.811C>T	8.37:g.145246714C>T	ENSP00000435565:p.Leu271Phe					HEATR7A_uc003zbg.2_Missense_Mutation_p.L271F|HEATR7A_uc003zbh.3_Missense_Mutation_p.L271F|HEATR7A_uc003zbi.3_Missense_Mutation_p.L271F|HEATR7A_uc011lla.1_Missense_Mutation_p.L271F|HEATR7A_uc010mft.2_Missense_Mutation_p.L271F	p.L271F	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN			9	1048	+			271					C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Missense_Mutation	SNP	ENST00000528919.1	37	c.811C>T	CCDS47938.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747793	0.49257	.	.	ENSG00000179832	ENST00000423230;ENST00000398656;ENST00000534366;ENST00000528919;ENST00000326134;ENST00000356585	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	5.17	3.13	0.36017	Armadillo-like helical (1);Armadillo-type fold (1);	0.352949	0.21458	U	0.074211	T	0.47875	0.1469	M	0.86740	2.835	0.47698	D	0.999498	D;D;D;D;D	0.69078	0.995;0.981;0.993;0.973;0.997	D;P;P;D;D	0.67900	0.951;0.708;0.796;0.94;0.954	T	0.48864	-0.8997	10	0.72032	D	0.01	.	4.5772	0.12240	0.1653:0.6021:0.142:0.0906	.	271;271;271;271;271	Q8NDA8-2;E9PHY8;Q8NDA8;Q8NDA8-4;Q8NDA8-5	.;.;HTR7A_HUMAN;.;.	F	271;271;271;271;271;203	ENSP00000388174:L271F;ENSP00000381649:L271F;ENSP00000436636:L271F;ENSP00000435565:L271F;ENSP00000321737:L271F	ENSP00000321737:L271F	L	+	1	0	HEATR7A	145318702	0.808000	0.29022	0.013000	0.15412	0.782000	0.44232	1.359000	0.34113	1.169000	0.42739	0.563000	0.77884	CTC		PASS	0.607	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386183.1	NM_032450		10	24	10	24	---	---	---	---
ZNF250	58500	broad.mit.edu	37	8	146108105	146108105	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:146108105C>T	ENST00000292579.7	-	6	594	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	ZNF250_ENST00000417550.2_Missense_Mutation_p.E155K|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	160					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.E160K(1)		endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TGCTTTGTTTCATTATTTTCT	0.458																																					NSCLC(16;520 556 24096 40084 43446)	uc003zeq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(478-480)GAA>AAA		zinc finger protein 250 isoform a							198.0	195.0	196.0					8																	146108105		2203	4300	6503	SO:0001583	missense	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146108105C>T	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.478G>A	8.37:g.146108105C>T	ENSP00000292579:p.Glu160Lys					COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Missense_Mutation_p.E155K|ZNF250_uc010mgg.2_Missense_Mutation_p.E155K	p.E160K	NM_021061	NP_066405	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	6	595	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		160					D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	ENST00000292579.7	37	c.478G>A	CCDS34972.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564933	0.45694	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912;ENST00000533622	T;T;T	0.07444	3.21;3.19;5.82	3.7	-0.275	0.12906	.	0.863648	0.09944	N	0.735529	T	0.08447	0.0210	M	0.64997	1.995	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40251	-0.9573	10	0.27082	T	0.32	-0.2935	4.1458	0.10215	0.0:0.3322:0.3376:0.3301	.	155;160	D3DWP1;P15622	.;ZN250_HUMAN	K	160;155;155;155	ENSP00000292579:E160K;ENSP00000393442:E155K;ENSP00000433387:E155K	ENSP00000292579:E160K	E	-	1	0	ZNF250	146078909	0.000000	0.05858	0.000000	0.03702	0.864000	0.49448	-1.396000	0.02513	-0.051000	0.13334	0.313000	0.20887	GAA		PASS	0.458	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		42	327	42	327	---	---	---	---
JAK2	3717	broad.mit.edu	37	9	5126787	5126787	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:5126787G>C	ENST00000381652.3	+	25	3889	c.3395G>C	c.(3394-3396)gGa>gCa	p.G1132A	JAK2_ENST00000487310.1_3'UTR|JAK2_ENST00000544510.1_Missense_Mutation_p.G983A|JAK2_ENST00000539801.1_Missense_Mutation_p.G1132A	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	1132					actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.G1132A(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AACATGGCTGGATGAAAGAAA	0.343		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													uc010mhm.2		1		Dom	yes		9	9p24	3717	T|Mis|O	Janus kinase 2			L	ETV6|PCM1|BCR		ALL|AML|MPD| CML	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641						c.(3394-3396)GGA>GCA		Janus kinase 2							58.0	55.0	56.0					9																	5126787		2203	4300	6503	SO:0001583	missense	3717	Polycythemia_Vera_Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5126787G>C		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.3395G>C	9.37:g.5126787G>C	ENSP00000371067:p.Gly1132Ala					JAK2_uc003ziw.2_Missense_Mutation_p.G1132A	p.G1132A	NM_004972	NP_004963	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	24	3508	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	1132					O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.3395G>C	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	9.025	0.985915	0.18889	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.78595	-1.1;-1.1;-1.19	5.27	1.25	0.21368	.	0.402294	0.26307	N	0.025124	T	0.55955	0.1953	N	0.11845	0.185	0.34968	D	0.752819	B	0.02656	0.0	B	0.01281	0.0	T	0.49652	-0.8917	10	0.46703	T	0.11	.	6.4868	0.22093	0.2001:0.2495:0.5504:0.0	.	1132	O60674	JAK2_HUMAN	A	1132;1132;983	ENSP00000440387:G1132A;ENSP00000371067:G1132A;ENSP00000443103:G983A	ENSP00000371067:G1132A	G	+	2	0	JAK2	5116787	1.000000	0.71417	0.939000	0.37840	0.780000	0.44128	2.505000	0.45424	0.027000	0.15297	-0.794000	0.03295	GGA		PASS	0.343	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			4	112	4	112	---	---	---	---
RIC1	57589	broad.mit.edu	37	9	5756368	5756368	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:5756368G>A	ENST00000414202.2	+	16	2040	c.1849G>A	c.(1849-1851)Gat>Aat	p.D617N	KIAA1432_ENST00000381532.2_Missense_Mutation_p.D538N|KIAA1432_ENST00000251879.6_Missense_Mutation_p.D617N|KIAA1432_ENST00000449720.2_Missense_Mutation_p.D501N|KIAA1432_ENST00000418622.3_Missense_Mutation_p.D538N	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.D538N(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AAGAAAATCTGATGGGTAAGT	0.348																																						uc003zji.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1612-1614)GAT>AAT		connexin 43-interacting protein 150 isoform a							125.0	125.0	125.0					9																	5756368		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5756368G>A																												ENST00000414202.2:c.1849G>A	9.37:g.5756368G>A	ENSP00000416696:p.Asp617Asn					KIAA1432_uc003zjh.2_Missense_Mutation_p.D538N|KIAA1432_uc003zjl.3_Missense_Mutation_p.D501N|KIAA1432_uc003zjj.1_Missense_Mutation_p.D80N	p.D538N	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	15	1705	+		Acute lymphoblastic leukemia(23;0.154)	617						Missense_Mutation	SNP	ENST00000414202.2	37	c.1612G>A	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516555	0.64634	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.	.	.	5.89	5.89	0.94794	.	0.197521	0.53938	D	0.000047	T	0.52273	0.1724	L	0.29908	0.895	0.54753	D	0.999983	B;B;B;B	0.26258	0.026;0.026;0.112;0.145	B;B;B;B	0.24006	0.015;0.01;0.047;0.05	T	0.46034	-0.9220	9	0.14656	T	0.56	-15.7674	20.2566	0.98424	0.0:0.0:1.0:0.0	.	501;538;617;617	B7ZM67;B2RN24;Q4ADV7;G5E932	.;.;RIC1_HUMAN;.	N	617;617;538;538;501	.	ENSP00000251879:D617N	D	+	1	0	KIAA1432	5746368	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.632000	0.83247	2.793000	0.96121	0.561000	0.74099	GAT		PASS	0.348	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			58	96	58	96	---	---	---	---
PSIP1	11168	broad.mit.edu	37	9	15468837	15468837	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:15468837C>G	ENST00000380733.4	-	14	1554	c.1211G>C	c.(1210-1212)cGg>cCg	p.R404P	PSIP1_ENST00000380738.4_Missense_Mutation_p.R404P			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	404					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)	p.R404Q(1)|p.R404P(1)		breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTTGAATCGCCGTATCTGAGA	0.303																																						uc003zlv.3																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	breast(1)	1						c.(1210-1212)CGG>CCG		PC4 and SFRS1 interacting protein 1 isoform 2							74.0	71.0	72.0					9																	15468837		2203	4300	6503	SO:0001583	missense	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15468837C>G	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1211G>C	9.37:g.15468837C>G	ENSP00000370109:p.Arg404Pro					PSIP1_uc003zlw.3_Missense_Mutation_p.R404P	p.R404P	NM_033222	NP_150091	O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	14	1541	-			404					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	ENST00000380733.4	37	c.1211G>C	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447592	0.63178	.	.	ENSG00000164985	ENST00000380733;ENST00000380738	T;T	0.69040	-0.37;-0.37	5.55	4.65	0.58169	.	0.053624	0.85682	D	0.000000	T	0.75686	0.3883	L	0.55990	1.75	0.80722	D	1	D	0.67145	0.996	P	0.59595	0.86	T	0.79191	-0.1905	10	0.87932	D	0	.	16.066	0.80870	0.1354:0.8646:0.0:0.0	.	404	O75475	PSIP1_HUMAN	P	404	ENSP00000370109:R404P;ENSP00000370114:R404P	ENSP00000370109:R404P	R	-	2	0	PSIP1	15458837	1.000000	0.71417	0.951000	0.38953	0.764000	0.43329	7.232000	0.78116	1.456000	0.47831	-0.188000	0.12872	CGG		PASS	0.303	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		38	58	38	58	---	---	---	---
IFNB1	3456	broad.mit.edu	37	9	21077455	21077455	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:21077455C>G	ENST00000380232.2	-	1	488	c.414G>C	c.(412-414)atG>atC	p.M138I		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	138					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.M138I(1)		breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		GCAGACTGCTCATGAGTTTTC	0.448																																						uc003zok.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|kidney(1)	3						c.(412-414)ATG>ATC		interferon, beta 1, fibroblast precursor	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)						187.0	191.0	190.0					9																	21077455		2203	4300	6503	SO:0001583	missense	3456				activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	g.chr9:21077455C>G		CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"""Interferons"""	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.414G>C	9.37:g.21077455C>G	ENSP00000369581:p.Met138Ile						p.M138I	NM_002176	NP_002167	P01574	IFNB_HUMAN		GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	1	489	-			138					Q5VWC9	Missense_Mutation	SNP	ENST00000380232.2	37	c.414G>C	CCDS6495.1	.	.	.	.	.	.	.	.	.	.	C	4.598	0.111171	0.08831	.	.	ENSG00000171855	ENST00000380232	T	0.16597	2.33	5.01	2.1	0.27182	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	2.614120	0.01275	N	0.009545	T	0.15782	0.0380	N	0.13098	0.295	0.09310	N	1	P	0.35468	0.503	B	0.40782	0.34	T	0.31943	-0.9925	10	0.72032	D	0.01	3.1688	7.5304	0.27679	0.0:0.7267:0.0:0.2733	.	138	P01574	IFNB_HUMAN	I	138	ENSP00000369581:M138I	ENSP00000369581:M138I	M	-	3	0	IFNB1	21067455	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.128000	0.15810	0.274000	0.22072	-0.145000	0.13849	ATG		PASS	0.448	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051881.1	NM_002176		50	327	50	327	---	---	---	---
IFNA14	3448	broad.mit.edu	37	9	21239788	21239788	+	Silent	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:21239788A>T	ENST00000380222.2	-	1	190	c.147T>A	c.(145-147)ccT>ccA	p.P49P		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	49					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.P49P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGCAGGAGAAAGGAGAGATTC	0.483																																						uc010mis.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(145-147)CCT>CCA		interferon, alpha 14 precursor							127.0	127.0	127.0					9																	21239788		2203	4300	6503	SO:0001819	synonymous_variant	3448				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21239788A>T		CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"""Interferons"""	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.147T>A	9.37:g.21239788A>T						IFNA14_uc003zoo.1_RNA	p.P49P	NM_002172	NP_002163	P01570	IFN14_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	191	-			49					Q5VZ56|Q7M4S1	Silent	SNP	ENST00000380222.2	37	c.147T>A	CCDS6501.1																																																																																				PASS	0.483	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051894.1	NM_002172		79	121	79	121	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21970910	21970910	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:21970910C>T	ENST00000304494.5	-	2	718	c.448G>A	c.(448-450)Ggt>Agt	p.G150S	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.G150S|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000578845.2_Missense_Mutation_p.G99S|CDKN2A_ENST00000494262.1_Missense_Mutation_p.G99S|CDKN2A_ENST00000498628.2_Missense_Mutation_p.G99S|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000479692.2_Missense_Mutation_p.G99S|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000497750.1_Missense_Mutation_p.G99S|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.G150S	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	150			G -> V (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(13)|p.R128fs*12(3)|p.G150S(2)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTGAGGGACCTTCCGCGGCA	0.597		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1334	Whole gene deletion(1316)|Unknown(13)|Deletion - Frameshift(3)|Substitution - Missense(2)	p.0?(1112)|p.?(13)|p.R128fs*12(3)|p.G150V(1)|p.G150G(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(163)|lung(145)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|upper_aerodigestive_tract(49)|oesophagus(48)|ovary(34)|kidney(30)|breast(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(448-450)GGT>AGT		cyclin-dependent kinase inhibitor 2A isoform 1							35.0	36.0	36.0					9																	21970910		2203	4300	6503	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21970910C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.448G>A	9.37:g.21970910C>T	ENSP00000307101:p.Gly150Ser	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR	p.G150S	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	660	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	150		G -> V (in non-small cell lung carcinoma).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.448G>A	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300356	0.23650	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.76578	-0.9;-1.03	4.92	0.903	0.19296	.	.	.	.	.	T	0.58963	0.2159	N	0.20685	0.6	0.09310	N	1	B	0.17038	0.02	B	0.10450	0.005	T	0.44832	-0.9302	9	0.39692	T	0.17	.	4.1267	0.10131	0.0:0.5387:0.1726:0.2887	.	150	P42771	CD2A1_HUMAN	S	150	ENSP00000307101:G150S;ENSP00000394932:G150S	ENSP00000307101:G150S	G	-	1	0	CDKN2A	21960910	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.790000	0.04604	0.005000	0.14708	-0.140000	0.14226	GGT		PASS	0.597	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		25	44	25	44	---	---	---	---
SMC5	23137	broad.mit.edu	37	9	72961531	72961531	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:72961531C>T	ENST00000361138.5	+	19	2592	c.2534C>T	c.(2533-2535)aCc>aTc	p.T845I	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	845					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.T845I(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						CAAGTACCCACCATTCCAAAT	0.438																																						uc004ahr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2533-2535)ACC>ATC		SMC5 protein							280.0	250.0	260.0					9																	72961531		2203	4300	6503	SO:0001583	missense	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72961531C>T	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2534C>T	9.37:g.72961531C>T	ENSP00000354957:p.Thr845Ile					SMC5_uc011lry.1_5'UTR	p.T845I	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN			19	2651	+			845					A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	c.2534C>T	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	C	4.569	0.105721	0.08780	.	.	ENSG00000198887	ENST00000361138	T	0.17854	2.25	4.58	3.67	0.42095	RecF/RecN/SMC (1);	1.014650	0.07832	N	0.961535	T	0.15696	0.0378	N	0.08118	0	0.24933	N	0.991908	P	0.49783	0.928	P	0.51895	0.683	T	0.30679	-0.9970	10	0.36615	T	0.2	-4.0532	10.1731	0.42922	0.1984:0.8016:0.0:0.0	.	845	Q8IY18	SMC5_HUMAN	I	845	ENSP00000354957:T845I	ENSP00000354957:T845I	T	+	2	0	SMC5	72151351	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.695000	0.37763	1.503000	0.48686	0.591000	0.81541	ACC		PASS	0.438	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		30	267	30	267	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79875048	79875048	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:79875048G>C	ENST00000360280.3	+	23	2595	c.2335G>C	c.(2335-2337)Gat>Cat	p.D779H	VPS13A_ENST00000376636.3_Missense_Mutation_p.D779H|VPS13A_ENST00000357409.5_Missense_Mutation_p.D779H|VPS13A_ENST00000376634.4_Missense_Mutation_p.D779H	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	779					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.D779H(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACGAATCTCAGATAAAAAACT	0.299																																						uc004akr.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(2335-2337)GAT>CAT		vacuolar protein sorting 13A isoform A							49.0	50.0	49.0					9																	79875048		2203	4299	6502	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79875048G>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2335G>C	9.37:g.79875048G>C	ENSP00000353422:p.Asp779His					VPS13A_uc004akp.3_Missense_Mutation_p.D779H|VPS13A_uc004akq.3_Missense_Mutation_p.D779H|VPS13A_uc004aks.2_Missense_Mutation_p.D779H	p.D779H	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			23	2595	+			779					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.2335G>C	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132239	0.77662	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.81088	0.4750	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.987;0.976;0.992;0.992	T	0.82682	-0.0336	10	0.87932	D	0	.	18.0904	0.89474	0.0:0.0:1.0:0.0	.	779;779;779;779	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	H	779	ENSP00000365821:D779H;ENSP00000365823:D779H;ENSP00000353422:D779H;ENSP00000349985:D779H	ENSP00000349985:D779H	D	+	1	0	VPS13A	79064868	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	7.100000	0.76989	2.566000	0.86566	0.591000	0.81541	GAT		PASS	0.299	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		18	94	18	94	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79933188	79933188	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:79933188C>A	ENST00000360280.3	+	41	5254	c.4994C>A	c.(4993-4995)aCt>aAt	p.T1665N	VPS13A_ENST00000376636.3_Missense_Mutation_p.T1626N|VPS13A_ENST00000357409.5_Missense_Mutation_p.T1665N|VPS13A_ENST00000376634.4_Missense_Mutation_p.T1665N|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1665					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.T1665N(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTACCATAACTTCAGCACTG	0.313																																						uc004akr.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(4993-4995)ACT>AAT		vacuolar protein sorting 13A isoform A							65.0	69.0	67.0					9																	79933188		2203	4299	6502	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79933188C>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.4994C>A	9.37:g.79933188C>A	ENSP00000353422:p.Thr1665Asn					VPS13A_uc004akp.3_Missense_Mutation_p.T1665N|VPS13A_uc004akq.3_Missense_Mutation_p.T1665N|VPS13A_uc004aks.2_Missense_Mutation_p.T1626N|VPS13A_uc004akt.2_Missense_Mutation_p.T5N|VPS13A_uc010mpo.1_Missense_Mutation_p.T261N	p.T1665N	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			41	5254	+			1665					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.4994C>A	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	9.489	1.100113	0.20552	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.3	4.39	0.52855	.	0.195762	0.46145	D	0.000318	T	0.62368	0.2422	M	0.65498	2.005	0.80722	D	1	P;D;D;D	0.69078	0.575;0.991;0.997;0.997	B;P;P;P	0.60949	0.312;0.701;0.881;0.881	T	0.62001	-0.6946	10	0.31617	T	0.26	.	15.5716	0.76341	0.1392:0.8608:0.0:0.0	.	1626;1665;1665;1665	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	N	1665;1626;1665;1665	ENSP00000365821:T1665N;ENSP00000365823:T1626N;ENSP00000353422:T1665N;ENSP00000349985:T1665N	ENSP00000349985:T1665N	T	+	2	0	VPS13A	79123008	1.000000	0.71417	1.000000	0.80357	0.147000	0.21601	2.642000	0.46596	1.351000	0.45789	-0.535000	0.04281	ACT		PASS	0.313	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		35	110	35	110	---	---	---	---
FRMD3	257019	broad.mit.edu	37	9	85862922	85862922	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:85862922C>G	ENST00000304195.3	-	14	1911	c.1705G>C	c.(1705-1707)Gag>Cag	p.E569Q	FRMD3_ENST00000376434.1_Intron|FRMD3_ENST00000328788.1_Intron|FRMD3_ENST00000376438.1_Intron|FRMD3_ENST00000465485.1_5'UTR	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	569						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)		p.E569Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TGAAACTGCTCAAACTCTGGT	0.493																																						uc004ams.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1705-1707)GAG>CAG		FERM domain containing 3							100.0	102.0	102.0					9																	85862922		1919	4123	6042	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85862922C>G	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1705G>C	9.37:g.85862922C>G	ENSP00000303508:p.Glu569Gln					FRMD3_uc004amr.1_Intron|FRMD3_uc004amq.1_Intron	p.E569Q	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN			14	1907	-			569					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.1705G>C	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881138	0.33255	.	.	ENSG00000172159	ENST00000304195	D	0.84370	-1.84	5.42	5.42	0.78866	.	0.052470	0.85682	D	0.000000	T	0.77191	0.4094	L	0.28115	0.83	0.58432	D	0.999996	B	0.19445	0.036	B	0.15870	0.014	T	0.71715	-0.4509	10	0.31617	T	0.26	.	15.1212	0.72443	0.0:0.8176:0.1824:0.0	.	569	A2A2Y4	FRMD3_HUMAN	Q	569	ENSP00000303508:E569Q	ENSP00000303508:E569Q	E	-	1	0	FRMD3	85052742	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.739000	0.62080	2.550000	0.86006	0.655000	0.94253	GAG		PASS	0.493	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		6	188	6	188	---	---	---	---
C9orf64	84267	broad.mit.edu	37	9	86559728	86559728	+	Silent	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:86559728T>A	ENST00000376344.3	-	3	990	c.774A>T	c.(772-774)ctA>ctT	p.L258L	C9orf64_ENST00000314700.1_Silent_p.L117L	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	258								p.L258L(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GCTTCTTCAGTAGGTCATCAG	0.388																																						uc004anb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(772-774)CTA>CTT		hypothetical protein LOC84267							91.0	89.0	89.0					9																	86559728		2203	4300	6503	SO:0001819	synonymous_variant	84267							g.chr9:86559728T>A	AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.774A>T	9.37:g.86559728T>A						C9orf64_uc004anc.2_Silent_p.L117L	p.L258L	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN			3	1022	-			258					B2RPI6|Q8N2B1|Q9BT18	Silent	SNP	ENST00000376344.3	37	c.774A>T	CCDS6666.2																																																																																				PASS	0.388	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	NM_032307		31	121	31	121	---	---	---	---
CTSL	1514	broad.mit.edu	37	9	90345939	90345939	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:90345939G>A	ENST00000343150.5	+	8	1809	c.919G>A	c.(919-921)Ggc>Agc	p.G307S	CTSL_ENST00000495822.1_3'UTR|CTSL_ENST00000340342.6_Missense_Mutation_p.G307S			P07711	CATL1_HUMAN	cathepsin L	307					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)	p.G307S(1)									TGAAGAATGGGGCATGGGTGG	0.488																																						uc004aph.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(919-921)GGC>AGC		cathepsin L1 preproprotein	Glucagon recombinant(DB00040)						86.0	74.0	78.0					9																	90345939		2203	4300	6503	SO:0001583	missense	1514				macrophage apoptosis|proteolysis	extracellular region|lysosome|nucleus	cysteine-type endopeptidase activity|histone binding	g.chr9:90345939G>A	X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.919G>A	9.37:g.90345939G>A	ENSP00000345344:p.Gly307Ser					CTSL1_uc004api.2_Missense_Mutation_p.G307S|CTSL1_uc004apj.2_Missense_Mutation_p.G252S|CTSL1_uc010mqh.2_Missense_Mutation_p.G125S|CTSL1_uc004apk.2_Missense_Mutation_p.G307S|CTSL1_uc004apl.2_Missense_Mutation_p.G307S	p.G307S	NM_001912	NP_001903	P07711	CATL1_HUMAN			8	1269	+			307					Q6IAV1|Q96QJ0	Missense_Mutation	SNP	ENST00000343150.5	37	c.919G>A	CCDS6675.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.625730	0.66901	.	.	ENSG00000135047	ENST00000343150;ENST00000340342	T;T	0.77877	-1.13;-1.13	4.24	4.24	0.50183	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94706	0.8292	H	0.99988	5.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97698	1.0183	10	0.87932	D	0	.	16.4008	0.83640	0.0:0.0:1.0:0.0	.	307	P07711	CATL1_HUMAN	S	307	ENSP00000345344:G307S;ENSP00000365061:G307S	ENSP00000365061:G307S	G	+	1	0	CTSL1	89535759	1.000000	0.71417	0.993000	0.49108	0.041000	0.13682	8.594000	0.90836	2.175000	0.68902	0.591000	0.81541	GGC		PASS	0.488	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912		6	55	6	55	---	---	---	---
GADD45G	10912	broad.mit.edu	37	9	92220039	92220039	+	Start_Codon_SNP	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:92220039G>A	ENST00000252506.6	+	1	112	c.3G>A	c.(1-3)atG>atA	p.M1I	GADD45G_ENST00000494726.1_3'UTR|GADD45G_ENST00000375769.1_5'UTR	NM_006705.3	NP_006696.1	O95257	GA45G_HUMAN	growth arrest and DNA-damage-inducible, gamma	1					activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M1I(1)		lung(2)	2						ATCGCACTATGACTCTGGAAG	0.642																																					Colon(131;320 2336 18973 23919)	uc004aqq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ATA		growth arrest and DNA-damage-inducible, gamma							51.0	51.0	51.0					9																	92220039		2203	4300	6503	SO:0001582	initiator_codon_variant	10912				activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development		protein binding	g.chr9:92220039G>A	D83023	CCDS6686.1	9q22.1-q22.2	2008-07-21			ENSG00000130222	ENSG00000130222			4097	protein-coding gene	gene with protein product	"""gadd-related protein, 17 kD"", ""growth arrest and DNA-damage-inducible gamma"""	604949				9827804, 10496071	Standard	NM_006705		Approved	DDIT2, GADD45gamma, GRP17, CR6	uc004aqq.3	O95257	OTTHUMG00000020187	ENST00000252506.6:c.3G>A	9.37:g.92220039G>A	ENSP00000252506:p.Met1Ile					GADD45G_uc004aqr.2_5'Flank	p.M1I	NM_006705	NP_006696	O95257	GA45G_HUMAN			1	113	+			1					Q5VZ87|Q9C076	Missense_Mutation	SNP	ENST00000252506.6	37	c.3G>A	CCDS6686.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843411	0.71488	.	.	ENSG00000130222	ENST00000252506	T	0.52295	0.67	4.06	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.41143	0.1146	.	.	.	0.80722	D	1	B	0.30406	0.278	B	0.24974	0.057	T	0.49551	-0.8928	9	0.87932	D	0	.	16.0404	0.80679	0.0:0.0:1.0:0.0	.	1	O95257	GA45G_HUMAN	I	1	ENSP00000252506:M1I	ENSP00000252506:M1I	M	+	3	0	GADD45G	91409859	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	5.785000	0.68998	2.557000	0.86248	0.561000	0.74099	ATG		PASS	0.642	GADD45G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053000.1	NM_006705	Missense_Mutation	4	27	4	27	---	---	---	---
CENPP	401541	broad.mit.edu	37	9	95107999	95107999	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:95107999T>A	ENST00000375587.3	+	4	912	c.397T>A	c.(397-399)Tct>Act	p.S133T		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	133					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.S133T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						GAGATTATCTTCTGCTGTTAC	0.289																																						uc004arz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(397-399)TCT>ACT		centromere protein P							58.0	58.0	58.0					9																	95107999		2203	4294	6497	SO:0001583	missense	401541				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr9:95107999T>A	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.397T>A	9.37:g.95107999T>A	ENSP00000364737:p.Ser133Thr					CENPP_uc010mqx.2_Missense_Mutation_p.S21T|CENPP_uc004ary.1_Missense_Mutation_p.S133T	p.S133T	NM_001012267	NP_001012267	Q6IPU0	CENPP_HUMAN			4	937	+			133					B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	c.397T>A	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.449044	0.26074	.	.	ENSG00000188312	ENST00000375587;ENST00000402724	.	.	.	3.81	3.81	0.43845	.	0.443776	0.21920	N	0.067165	T	0.53254	0.1785	L	0.38531	1.155	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.70227	0.952;0.968	T	0.49799	-0.8901	9	0.09338	T	0.73	.	7.4589	0.27283	0.0:0.0:0.2209:0.7791	.	133;92	Q6IPU0;Q7Z672	CENPP_HUMAN;.	T	133;92	.	ENSP00000364737:S133T	S	+	1	0	CENPP	94147820	1.000000	0.71417	0.985000	0.45067	0.861000	0.49209	2.406000	0.44557	1.983000	0.57843	0.477000	0.44152	TCT		PASS	0.289	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267		14	73	14	73	---	---	---	---
ZNF169	169841	broad.mit.edu	37	9	97062288	97062288	+	Missense_Mutation	SNP	G	G	A	rs536175880		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:97062288G>A	ENST00000395395.2	+	5	538	c.448G>A	c.(448-450)Gac>Aac	p.D150N	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	150					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.D150N(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				AGAAGGCCCCGACAGCTCATT	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		19286	0.0		0.001	False		,,,				2504	0.0					uc004aum.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(448-450)GAC>AAC		zinc finger protein 169							51.0	49.0	50.0					9																	97062288		2203	4300	6503	SO:0001583	missense	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97062288G>A	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.448G>A	9.37:g.97062288G>A	ENSP00000378792:p.Asp150Asn						p.D150N	NM_194320	NP_919301	Q14929	ZN169_HUMAN			5	553	+		Acute lymphoblastic leukemia(62;0.136)	150					A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	ENST00000395395.2	37	c.448G>A	CCDS6709.2	.	.	.	.	.	.	.	.	.	.	G	2.855	-0.237530	0.05944	.	.	ENSG00000175787	ENST00000395395	T	0.06294	3.32	2.44	-2.4	0.06583	.	.	.	.	.	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.46762	-0.9168	9	0.11794	T	0.64	.	0.7534	0.00994	0.4191:0.1701:0.2386:0.1722	.	150	Q14929	ZN169_HUMAN	N	150	ENSP00000378792:D150N	ENSP00000378792:D150N	D	+	1	0	ZNF169	96102109	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.664000	0.25068	-0.635000	0.05531	-0.306000	0.09157	GAC		PASS	0.488	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		20	56	20	56	---	---	---	---
NCBP1	4686	broad.mit.edu	37	9	100416152	100416152	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:100416152G>A	ENST00000375147.3	+	11	1388	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	378					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)	p.E378K(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				ACTCCTCATTGAACTGTGCAA	0.378																																					Ovarian(36;879 898 2893 44212 50307)	uc004axq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1132-1134)GAA>AAA		nuclear cap binding protein subunit 1, 80kDa							188.0	174.0	179.0					9																	100416152		2203	4300	6503	SO:0001583	missense	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100416152G>A	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.1132G>A	9.37:g.100416152G>A	ENSP00000364289:p.Glu378Lys						p.E378K	NM_002486	NP_002477	Q09161	NCBP1_HUMAN			11	1591	+		Acute lymphoblastic leukemia(62;0.158)	378					B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	ENST00000375147.3	37	c.1132G>A	CCDS6728.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894764	0.72639	.	.	ENSG00000136937	ENST00000375147	.	.	.	5.08	5.08	0.68730	MIF4G-like, type 1 (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.86772	0.6013	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90009	0.4120	9	0.66056	D	0.02	-18.9724	18.4495	0.90697	0.0:0.0:1.0:0.0	.	378	Q09161	NCBP1_HUMAN	K	378	.	ENSP00000364289:E378K	E	+	1	0	NCBP1	99455973	1.000000	0.71417	0.997000	0.53966	0.073000	0.16967	9.378000	0.97191	2.519000	0.84933	0.650000	0.86243	GAA		PASS	0.378	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		12	150	12	150	---	---	---	---
GALNT12	79695	broad.mit.edu	37	9	101611249	101611249	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:101611249C>T	ENST00000375011.3	+	10	1621	c.1621C>T	c.(1621-1623)Cac>Tac	p.H541Y	GALNT12_ENST00000470473.1_3'UTR|RP11-92C4.3_ENST00000589257.1_RNA|RP11-92C4.3_ENST00000433997.1_RNA	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	541	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.H541N(1)|p.H541Y(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				ATCTTTATTTCACGAACAGTC	0.423											OREG0019361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004ayz.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1621-1623)CAC>TAC		N-acetylgalactosaminyltransferase 12							109.0	92.0	98.0					9																	101611249		2203	4300	6503	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101611249C>T	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1621C>T	9.37:g.101611249C>T	ENSP00000364150:p.His541Tyr		OREG0019361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360		p.H541Y	NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN			10	1621	+		Acute lymphoblastic leukemia(62;0.0559)	541			Ricin B-type lectin.|Lumenal (Potential).		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.1621C>T	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535299	0.64972	.	.	ENSG00000119514	ENST00000375011	T	0.30981	1.51	5.74	5.74	0.90152	Ricin B-related lectin (1);Ricin B lectin (3);	0.045054	0.85682	D	0.000000	T	0.46288	0.1385	M	0.91510	3.215	0.58432	D	0.999999	B	0.25772	0.134	B	0.25884	0.064	T	0.52275	-0.8597	10	0.72032	D	0.01	.	15.433	0.75116	0.0:1.0:0.0:0.0	.	541	Q8IXK2	GLT12_HUMAN	Y	541	ENSP00000364150:H541Y	ENSP00000364150:H541Y	H	+	1	0	GALNT12	100651070	1.000000	0.71417	0.860000	0.33809	0.985000	0.73830	5.960000	0.70348	2.714000	0.92807	0.650000	0.86243	CAC		PASS	0.423	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		16	75	16	75	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101751484	101751484	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:101751484C>T	ENST00000375001.3	+	5	1171	c.748C>T	c.(748-750)Cag>Tag	p.Q250*		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	250	Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.Q250*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CAGTGGGCTGCAGGAGGCAGA	0.552																																						uc004azb.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)	6						c.(748-750)CAG>TAG		alpha 1 type XV collagen precursor							124.0	92.0	103.0					9																	101751484		2203	4300	6503	SO:0001587	stop_gained	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101751484C>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.748C>T	9.37:g.101751484C>T	ENSP00000364140:p.Gln250*						p.Q250*	NM_001855	NP_001846	P39059	COFA1_HUMAN			5	954	+		Acute lymphoblastic leukemia(62;0.0562)	250			Nonhelical region 1 (NC1).		Q5T6J4|Q9UDC5|Q9Y4W4	Nonsense_Mutation	SNP	ENST00000375001.3	37	c.748C>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	41	8.697177	0.98918	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	.	.	.	5.07	3.05	0.35203	.	0.823661	0.11107	N	0.599025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-1.4086	11.2865	0.49224	0.0:0.6432:0.3568:0.0	.	.	.	.	X	250;220	.	ENSP00000364140:Q250X	Q	+	1	0	COL15A1	100791305	0.997000	0.39634	0.999000	0.59377	0.936000	0.57629	1.488000	0.35551	1.241000	0.43820	0.563000	0.77884	CAG		PASS	0.552	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		14	93	14	93	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101832050	101832050	+	Missense_Mutation	SNP	C	C	T	rs374842979		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:101832050C>T	ENST00000375001.3	+	42	4472	c.4049C>T	c.(4048-4050)aCg>aTg	p.T1350M		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1350	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.T1350M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ACAGCGGTCACGGGACTTGCC	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16771	0.0		0.0	False		,,,				2504	0.0					uc004azb.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(4048-4050)ACG>ATG		alpha 1 type XV collagen precursor		C	MET/THR	0,4406		0,0,2203	102.0	97.0	99.0		4049	4.3	0.3	9		99	2,8598	2.2+/-6.3	0,2,4298	no	missense	COL15A1	NM_001855.3	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	1350/1389	101832050	2,13004	2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101832050C>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.4049C>T	9.37:g.101832050C>T	ENSP00000364140:p.Thr1350Met						p.T1350M	NM_001855	NP_001846	P39059	COFA1_HUMAN			42	4255	+		Acute lymphoblastic leukemia(62;0.0562)	1350			Nonhelical region 10 (NC10).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.4049C>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	9.646	1.140402	0.21205	0.0	2.33E-4	ENSG00000204291	ENST00000375001	T	0.54279	0.58	6.17	4.26	0.50523	Collagenase NC10/endostatin (1);C-type lectin fold (1);C-type lectin-like (1);	0.142492	0.64402	N	0.000005	T	0.36138	0.0956	L	0.37850	1.14	0.42030	D	0.991028	D	0.52996	0.957	B	0.35510	0.204	T	0.17715	-1.0360	10	0.44086	T	0.13	-5.2795	10.0811	0.42391	0.0:0.7737:0.0:0.2263	.	1350	P39059	COFA1_HUMAN	M	1350	ENSP00000364140:T1350M	ENSP00000364140:T1350M	T	+	2	0	COL15A1	100871871	0.262000	0.24073	0.342000	0.25602	0.058000	0.15608	0.869000	0.27996	0.852000	0.35287	0.655000	0.94253	ACG		PASS	0.542	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		46	154	46	154	---	---	---	---
OR13D1	286365	broad.mit.edu	37	9	107456754	107456754	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:107456754C>A	ENST00000318763.5	+	1	95	c.52C>A	c.(52-54)Cat>Aat	p.H18N		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H18N(1)		large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TTACCTGAATCATGTCCTTTT	0.363																																						uc011lvs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(52-54)CAT>AAT		olfactory receptor, family 13, subfamily D,							67.0	62.0	63.0					9																	107456754		2202	4300	6502	SO:0001583	missense	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107456754C>A		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.52C>A	9.37:g.107456754C>A	ENSP00000317357:p.His18Asn						p.H18N	NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN			1	52	+			18			Extracellular (Potential).		B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	c.52C>A	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.257148	0.22965	.	.	ENSG00000179055	ENST00000318763	T	0.00001	9.9	3.86	1.87	0.25490	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	P	0.40476	0.718	B	0.27500	0.08	T	0.00146	-1.1991	9	0.66056	D	0.02	.	4.1004	0.10010	0.3819:0.4991:0.0:0.119	.	18	Q8NGV5	O13D1_HUMAN	N	18	ENSP00000317357:H18N	ENSP00000317357:H18N	H	+	1	0	OR13D1	106496575	0.001000	0.12720	0.008000	0.14137	0.487000	0.33371	0.788000	0.26872	1.993000	0.58246	0.655000	0.94253	CAT		PASS	0.363	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			18	76	18	76	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109687003	109687003	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:109687003C>G	ENST00000277225.5	+	3	1099	c.810C>G	c.(808-810)gtC>gtG	p.V270V	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Silent_p.V270V			Q96JM2	ZN462_HUMAN	zinc finger protein 462	270					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V270V(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCAGTATGGTCAAGATCCTTT	0.522																																						uc004bcz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(808-810)GTC>GTG		zinc finger protein 462							98.0	93.0	95.0					9																	109687003		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109687003C>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.810C>G	9.37:g.109687003C>G						ZNF462_uc010mto.2_Silent_p.V118V|ZNF462_uc004bda.2_Silent_p.V118V	p.V270V	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	1099	+			270					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.810C>G	CCDS35096.1																																																																																				PASS	0.522	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		30	91	30	91	---	---	---	---
AKAP2	11217	broad.mit.edu	37	9	112899041	112899041	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:112899041A>T	ENST00000259318.7	+	2	731	c.524A>T	c.(523-525)aAg>aTg	p.K175M	AKAP2_ENST00000510514.5_Missense_Mutation_p.K406M|AKAP2_ENST00000434623.2_Missense_Mutation_p.K264M|AKAP2_ENST00000374525.1_Missense_Mutation_p.K264M|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.K406M|AKAP2_ENST00000555236.1_Missense_Mutation_p.K406M|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.K406M	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	175								p.K406M(1)|p.K264M(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						ACACTGAAAAAGGAGGCCAAG	0.537																																						uc004bei.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1912-1914)AAG>ATG		A kinase (PRKA) anchor protein 2 isoform 2							86.0	80.0	82.0					9																	112899041		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112899041A>T	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.524A>T	9.37:g.112899041A>T	ENSP00000259318:p.Lys175Met					PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.K406M|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.K406M|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.K216M|AKAP2_uc011lwi.1_Missense_Mutation_p.K264M|AKAP2_uc004bem.2_Missense_Mutation_p.K264M|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.K224M|AKAP2_uc011lwj.1_Missense_Mutation_p.K175M|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.K175M	p.K638M	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			9	2105	+			175					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.1913A>T	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.897818	0.72639	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.72407	0.3456	M	0.70275	2.135	0.58432	D	0.999998	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.968;0.999;0.996;0.999;0.998;0.999;0.999;0.998	T	0.75091	-0.3440	10	0.87932	D	0	-46.4079	16.0034	0.80327	1.0:0.0:0.0:0.0	.	175;264;258;264;265;406;406;224	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	M	406;406;406;406;264;264;224;175	ENSP00000363654:K406M;ENSP00000305861:K406M;ENSP00000451476:K406M;ENSP00000421522:K406M;ENSP00000404782:K264M;ENSP00000363649:K264M;ENSP00000419268:K224M;ENSP00000259318:K175M	ENSP00000259318:K175M	K	+	2	0	PALM2-AKAP2;AKAP2	111938862	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.086000	0.71352	2.371000	0.80710	0.533000	0.62120	AAG		PASS	0.537	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		15	55	15	55	---	---	---	---
MUSK	4593	broad.mit.edu	37	9	113550000	113550000	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:113550000C>T	ENST00000374448.4	+	14	1943	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	MUSK_ENST00000374438.1_Silent_p.F119F|MUSK_ENST00000416899.2_Silent_p.F595F|MUSK_ENST00000189978.5_Silent_p.F603F	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	603	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F603F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ATGAACCTTTCACTATGGTGG	0.438																																						uc004bey.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(1807-1809)TTC>TTT		skeletal muscle receptor tyrosine kinase							83.0	75.0	77.0					9																	113550000		1876	4102	5978	SO:0001819	synonymous_variant	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113550000C>T	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1809C>T	9.37:g.113550000C>T						MUSK_uc004bez.1_Silent_p.F183F	p.F603F	NM_005592	NP_005583	O15146	MUSK_HUMAN			13	1907	+			603			Protein kinase.|Cytoplasmic (Potential).		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP	ENST00000374448.4	37	c.1809C>T	CCDS48005.1																																																																																				PASS	0.438	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	87	4	87	---	---	---	---
KIAA1958	158405	broad.mit.edu	37	9	115336509	115336509	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:115336509G>A	ENST00000337530.6	+	2	445	c.149G>A	c.(148-150)tGt>tAt	p.C50Y	KIAA1958_ENST00000374244.3_Missense_Mutation_p.C50Y|KIAA1958_ENST00000536272.1_Missense_Mutation_p.C50Y	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	50								p.C50Y(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						ATGTGGGGCTGTAGTGCTGGC	0.502																																						uc004bgf.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(148-150)TGT>TAT		hypothetical protein LOC158405							56.0	52.0	53.0					9																	115336509		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115336509G>A	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.149G>A	9.37:g.115336509G>A	ENSP00000336940:p.Cys50Tyr					KIAA1958_uc011lwx.1_Missense_Mutation_p.C50Y	p.C50Y	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN			2	324	+			50					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.149G>A	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.720733	0.68959	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	L	0.49126	1.545	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.76830	-0.2814	9	0.87932	D	0	-22.8623	20.6243	0.99512	0.0:0.0:1.0:0.0	.	50;50	B7ZKW6;Q8N8K9	.;K1958_HUMAN	Y	50	.	ENSP00000336940:C50Y	C	+	2	0	KIAA1958	114376330	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	8.385000	0.90163	2.879000	0.98667	0.650000	0.86243	TGT		PASS	0.502	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		14	48	14	48	---	---	---	---
KIAA1958	158405	broad.mit.edu	37	9	115336775	115336775	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:115336775G>A	ENST00000337530.6	+	2	711	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	KIAA1958_ENST00000374244.3_Missense_Mutation_p.E139K|KIAA1958_ENST00000536272.1_Missense_Mutation_p.E139K	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	139								p.E139K(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TGAAGAATATGAAGATGAGAA	0.453																																						uc004bgf.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(415-417)GAA>AAA		hypothetical protein LOC158405							190.0	186.0	188.0					9																	115336775		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115336775G>A	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.415G>A	9.37:g.115336775G>A	ENSP00000336940:p.Glu139Lys					KIAA1958_uc011lwx.1_Missense_Mutation_p.E139K	p.E139K	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN			2	590	+			139					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.415G>A	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643077	0.87859	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	T;T;T	0.39787	1.06;1.06;1.06	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	T	0.48857	0.1523	N	0.19112	0.55	0.51767	D	0.999935	D;D	0.67145	0.996;0.99	P;P	0.60415	0.874;0.824	T	0.35425	-0.9789	10	0.34782	T	0.22	-19.606	20.6439	0.99570	0.0:0.0:1.0:0.0	.	139;139	B7ZKW6;Q8N8K9	.;K1958_HUMAN	K	139	ENSP00000336940:E139K;ENSP00000363362:E139K;ENSP00000440504:E139K	ENSP00000336940:E139K	E	+	1	0	KIAA1958	114376596	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.970000	0.70431	2.884000	0.98904	0.655000	0.94253	GAA		PASS	0.453	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		56	157	56	157	---	---	---	---
SLC46A2	57864	broad.mit.edu	37	9	115649615	115649615	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:115649615G>C	ENST00000374228.4	-	2	1439	c.1208C>G	c.(1207-1209)tCt>tGt	p.S403C	RP11-408O19.5_ENST00000605480.1_RNA	NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	403					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.S403C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CTCACCATAAGAGGAGCCCTT	0.502																																						uc004bgk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1207-1209)TCT>TGT		solute carrier family 46, member 2							125.0	108.0	114.0					9																	115649615		2203	4300	6503	SO:0001583	missense	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115649615G>C	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.1208C>G	9.37:g.115649615G>C	ENSP00000363345:p.Ser403Cys						p.S403C	NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN			2	1440	-			403			Cytoplasmic (Potential).		B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	ENST00000374228.4	37	c.1208C>G	CCDS6786.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099463	0.76983	.	.	ENSG00000119457	ENST00000374228	T	0.58358	0.34	5.47	5.47	0.80525	Major facilitator superfamily domain, general substrate transporter (1);	0.245378	0.43416	D	0.000571	T	0.69726	0.3143	L	0.53249	1.67	0.58432	D	0.999995	D	0.89917	1.0	D	0.72338	0.977	T	0.71731	-0.4504	10	0.87932	D	0	-17.8342	18.9971	0.92818	0.0:0.0:1.0:0.0	.	403	Q9BY10	TSCOT_HUMAN	C	403	ENSP00000363345:S403C	ENSP00000363345:S403C	S	-	2	0	SLC46A2	114689436	1.000000	0.71417	0.994000	0.49952	0.832000	0.47134	7.426000	0.80270	2.578000	0.87016	0.650000	0.86243	TCT		PASS	0.502	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		7	18	7	18	---	---	---	---
TRAF1	7185	broad.mit.edu	37	9	123675837	123675837	+	Silent	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:123675837C>A	ENST00000373887.3	-	5	2919	c.474G>T	c.(472-474)ggG>ggT	p.G158G	TRAF1_ENST00000546084.1_Silent_p.G36G|TRAF1_ENST00000540010.1_Silent_p.G158G	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	158					apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G158G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						CCTCCAGGTCCCCCGCCACTT	0.662																																						uc004bku.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(472-474)GGG>GGT		TNF receptor-associated factor 1							34.0	35.0	35.0					9																	123675837		2202	4300	6502	SO:0001819	synonymous_variant	7185				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	g.chr9:123675837C>A	AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.474G>T	9.37:g.123675837C>A						TRAF1_uc011lyg.1_Silent_p.G36G|TRAF1_uc010mvl.1_Silent_p.G158G	p.G158G	NM_005658	NP_005649	Q13077	TRAF1_HUMAN			5	1046	-			158					B4DJ77|Q658U1|Q8NF13	Silent	SNP	ENST00000373887.3	37	c.474G>T	CCDS6825.1																																																																																				PASS	0.662	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053843.1	NM_005658		11	85	11	85	---	---	---	---
GSN	2934	broad.mit.edu	37	9	124074660	124074660	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:124074660G>C	ENST00000373818.4	+	5	779	c.710G>C	c.(709-711)aGa>aCa	p.R237T	GSN_ENST00000485767.1_3'UTR|GSN_ENST00000373808.2_Missense_Mutation_p.R186T|GSN_ENST00000373823.3_Missense_Mutation_p.R186T|GSN_ENST00000341272.2_Missense_Mutation_p.R186T|GSN_ENST00000412819.1_Missense_Mutation_p.R186T|GSN_ENST00000449733.1_Missense_Mutation_p.R186T|GSN_ENST00000436847.1_Missense_Mutation_p.R197T|GSN_ENST00000545652.1_Missense_Mutation_p.R194T|GSN_ENST00000394353.2_Missense_Mutation_p.R197T|GSN_ENST00000373807.1_5'UTR	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	237					actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)	p.R237T(1)|p.R186T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CGGTATGAAAGACTGAAGGCC	0.617																																						uc004blf.1																			2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(1)	3						c.(709-711)AGA>ACA		gelsolin isoform a precursor							101.0	102.0	102.0					9																	124074660		2203	4300	6503	SO:0001583	missense	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124074660G>C	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.710G>C	9.37:g.124074660G>C	ENSP00000362924:p.Arg237Thr					GSN_uc004bld.1_Missense_Mutation_p.R186T|GSN_uc010mvq.1_Missense_Mutation_p.R197T|GSN_uc010mvr.1_Missense_Mutation_p.R197T|GSN_uc010mvu.1_Missense_Mutation_p.R186T|GSN_uc010mvt.1_Missense_Mutation_p.R186T|GSN_uc010mvs.1_Missense_Mutation_p.R186T|GSN_uc004ble.1_Missense_Mutation_p.R186T|GSN_uc010mvv.1_Missense_Mutation_p.R186T|GSN_uc011lyh.1_Missense_Mutation_p.R203T|GSN_uc011lyi.1_Missense_Mutation_p.R186T|GSN_uc011lyj.1_Missense_Mutation_p.R210T|GSN_uc004blg.1_5'UTR	p.R237T	NM_000177	NP_000168	P06396	GELS_HUMAN			5	771	+			237			Gelsolin-like 2.		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	c.710G>C	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608562	0.66558	.	.	ENSG00000148180	ENST00000373823;ENST00000432226;ENST00000449773;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818	T;T;T;T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.93	3.15	0.36227	Gelsolin domain (1);	0.149811	0.56097	D	0.000029	T	0.70596	0.3242	H	0.95982	3.75	0.33564	D	0.597708	P;B;P;P	0.49185	0.883;0.031;0.487;0.92	P;B;B;P	0.50860	0.652;0.022;0.306;0.628	T	0.79685	-0.1700	10	0.51188	T	0.08	-10.9923	8.8058	0.34936	0.2828:0.0:0.7172:0.0	.	210;194;197;237	B7Z9A0;F5H1A8;B7Z373;P06396	.;.;.;GELS_HUMAN	T	186;186;197;197;197;186;186;186;186;170;160;194;237	ENSP00000362929:R186T;ENSP00000404226:R186T;ENSP00000410657:R197T;ENSP00000411293:R197T;ENSP00000377882:R197T;ENSP00000409358:R186T;ENSP00000416586:R186T;ENSP00000340888:R186T;ENSP00000362914:R186T;ENSP00000445823:R194T;ENSP00000362924:R237T	ENSP00000340888:R186T	R	+	2	0	GSN	123114481	0.999000	0.42202	0.994000	0.49952	0.567000	0.35839	1.085000	0.30840	0.439000	0.26476	0.655000	0.94253	AGA		PASS	0.617	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		29	225	29	225	---	---	---	---
OR1B1	347169	broad.mit.edu	37	9	125391335	125391335	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:125391335C>A	ENST00000304833.3	-	1	517	c.480G>T	c.(478-480)ttG>ttT	p.L160F	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L160F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GTCCCACACGCAACATGGTGT	0.557																																						uc011lyz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(478-480)TTG>TTT		olfactory receptor, family 1, subfamily B,							86.0	65.0	72.0					9																	125391335		2203	4300	6503	SO:0001583	missense	347169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125391335C>A	AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"""GPCR / Class A : Olfactory receptors"""	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.480G>T	9.37:g.125391335C>A	ENSP00000303151:p.Leu160Phe						p.L160F	NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN			1	480	-			160			Helical; Name=4; (Potential).		Q6IFN3	Missense_Mutation	SNP	ENST00000304833.3	37	c.480G>T	CCDS35126.1	.	.	.	.	.	.	.	.	.	.	C	9.108	1.005880	0.19199	.	.	ENSG00000171484	ENST00000304833	T	0.39592	1.07	4.26	-1.35	0.09114	GPCR, rhodopsin-like superfamily (1);	0.494197	0.14984	N	0.287049	T	0.37320	0.0999	L	0.48935	1.535	0.19945	N	0.999946	P	0.46578	0.88	P	0.49047	0.599	T	0.23297	-1.0192	10	0.51188	T	0.08	-5.2607	4.6247	0.12472	0.3687:0.4223:0.0:0.2091	.	160	Q8NGR6	OR1B1_HUMAN	F	160	ENSP00000303151:L160F	ENSP00000303151:L160F	L	-	3	2	OR1B1	124431156	0.000000	0.05858	0.822000	0.32727	0.070000	0.16714	-0.460000	0.06720	-0.378000	0.07918	0.644000	0.83932	TTG		PASS	0.557	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2	NM_001004450		13	40	13	40	---	---	---	---
OR1L4	254973	broad.mit.edu	37	9	125486533	125486533	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:125486533G>C	ENST00000259466.1	+	1	265	c.265G>C	c.(265-267)Gag>Cag	p.E89Q		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E89Q(1)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TTTTCTATCAGAGACAAAGAT	0.448																																						uc004bmu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(265-267)GAG>CAG		olfactory receptor, family 1, subfamily L,							130.0	126.0	127.0					9																	125486533		2203	4300	6503	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486533G>C		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.265G>C	9.37:g.125486533G>C	ENSP00000259466:p.Glu89Gln						p.E89Q	NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN			1	265	+			89			Extracellular (Potential).		Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.265G>C	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.995579	0.00435	.	.	ENSG00000136939	ENST00000259466	T	0.10192	2.9	4.01	-0.314	0.12750	GPCR, rhodopsin-like superfamily (1);	0.390991	0.22113	N	0.064459	T	0.04227	0.0117	N	0.13299	0.325	0.25998	N	0.982154	B	0.17268	0.021	B	0.12156	0.007	T	0.45175	-0.9279	10	0.02654	T	1	-7.3533	7.5977	0.28058	0.1786:0.5273:0.2941:0.0	.	89	Q8NGR5	OR1L4_HUMAN	Q	89	ENSP00000259466:E89Q	ENSP00000259466:E89Q	E	+	1	0	OR1L4	124526354	0.001000	0.12720	0.839000	0.33178	0.531000	0.34715	-0.065000	0.11617	-0.255000	0.09486	0.298000	0.19748	GAG		PASS	0.448	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			6	180	6	180	---	---	---	---
LMX1B	4010	broad.mit.edu	37	9	129455528	129455528	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:129455528C>G	ENST00000373474.4	+	4	674	c.667C>G	c.(667-669)Cgg>Ggg	p.R223G	LMX1B_ENST00000561065.1_Missense_Mutation_p.R200G|LMX1B_ENST00000355497.5_Missense_Mutation_p.R223G|LMX1B_ENST00000526117.1_Missense_Mutation_p.R223G|LMX1B_ENST00000425646.2_Missense_Mutation_p.R200G			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	223			R -> Q (in NPS; dbSNP:rs28939692). {ECO:0000269|PubMed:11668639, ECO:0000269|PubMed:9837817}.		cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R223G(1)|p.R200G(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CAAGCGACCCCGGACCATCCT	0.682									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	uc004bqj.2																			2	Substitution - Missense(2)		lung(2)		0						c.(598-600)CGG>GGG		LIM homeobox transcription factor 1, beta							37.0	40.0	39.0					9																	129455528		2200	4297	6497	SO:0001583	missense	4010	Nail-Patella_Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129455528C>G	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.667C>G	9.37:g.129455528C>G	ENSP00000362573:p.Arg223Gly					LMX1B_uc004bqi.2_Missense_Mutation_p.R200G|LMX1B_uc011maa.1_Missense_Mutation_p.R200G	p.R200G	NM_002316	NP_002307	O60663	LMX1B_HUMAN			4	648	+			200			Homeobox.		F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	ENST00000373474.4	37	c.598C>G	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837016	0.71373	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52	4.97	4.03	0.46877	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99510	0.9825	H	0.98721	4.31	0.80722	D	1	D;P;P	0.60575	0.988;0.753;0.709	D;B;B	0.63877	0.919;0.356;0.242	D	0.97905	1.0305	10	0.87932	D	0	.	11.8308	0.52295	0.3754:0.6246:0.0:0.0	.	200;200;223	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	G	223;223;223;200	ENSP00000436930:R223G;ENSP00000362573:R223G;ENSP00000347684:R223G;ENSP00000390923:R200G	ENSP00000347684:R223G	R	+	1	2	LMX1B	128495349	0.173000	0.23056	0.999000	0.59377	0.996000	0.88848	0.757000	0.26433	2.299000	0.77371	0.462000	0.41574	CGG		PASS	0.682	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			5	16	5	16	---	---	---	---
GARNL3	84253	broad.mit.edu	37	9	130100413	130100413	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:130100413G>A	ENST00000373387.4	+	12	1353	c.1001G>A	c.(1000-1002)aGa>aAa	p.R334K	GARNL3_ENST00000435213.2_Missense_Mutation_p.R312K|GARNL3_ENST00000314904.5_Missense_Mutation_p.R334K	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	334	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)	p.R316K(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GCCTTAGTGAGATACAATCAA	0.383																																						uc011mae.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1000-1002)AGA>AAA		GTPase activating Rap/RanGAP domain-like 3							243.0	215.0	225.0					9																	130100413		2202	4300	6502	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130100413G>A	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1001G>A	9.37:g.130100413G>A	ENSP00000362485:p.Arg334Lys					GARNL3_uc011mad.1_Missense_Mutation_p.R312K|GARNL3_uc004bqt.1_Missense_Mutation_p.R115K	p.R334K	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			12	1402	+			334			Rap-GAP.		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.1001G>A	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766862	0.49574	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	D;D;D	0.93426	-3.22;-3.22;-3.22	5.51	5.51	0.81932	Rap/ran-GAP (2);	0.127712	0.64402	D	0.000001	D	0.90817	0.7116	N	0.24115	0.695	0.49687	D	0.999816	P;P;B	0.38223	0.623;0.623;0.32	P;B;B	0.45167	0.472;0.253;0.193	D	0.88793	0.3279	9	.	.	.	.	18.3448	0.90318	0.0:0.0:1.0:0.0	.	334;312;275	Q5VVW2;B7Z3Q6;Q5VVW4	GARL3_HUMAN;.;.	K	312;334;334	ENSP00000396205:R312K;ENSP00000313970:R334K;ENSP00000362485:R334K	.	R	+	2	0	GARNL3	129140234	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	6.840000	0.75369	2.736000	0.93811	0.655000	0.94253	AGA		PASS	0.383	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		53	203	53	203	---	---	---	---
SPTAN1	6709	broad.mit.edu	37	9	131383448	131383448	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:131383448G>A	ENST00000372731.4	+	44	5840	c.5730G>A	c.(5728-5730)aaG>aaA	p.K1910K	SPTAN1_ENST00000372739.3_Silent_p.K1915K|SPTAN1_ENST00000358161.5_Silent_p.K1915K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1910					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.K1910K(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCTTACTGAAGAAACATGAAG	0.507																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3																			1	Substitution - coding silent(1)		lung(1)	breast(5)|ovary(4)|pancreas(1)	10						c.(5728-5730)AAG>AAA		spectrin, alpha, non-erythrocytic 1							109.0	93.0	98.0					9																	131383448		2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131383448G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5730G>A	9.37:g.131383448G>A						SPTAN1_uc004bvm.3_Silent_p.K1915K|SPTAN1_uc004bvn.3_Silent_p.K1890K	p.K1910K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			44	5843	+			1910			Spectrin 20.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.5730G>A	CCDS6905.1																																																																																				PASS	0.507	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		19	87	19	87	---	---	---	---
CRAT	1384	broad.mit.edu	37	9	131860614	131860614	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:131860614G>A	ENST00000318080.2	-	10	1536	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	414					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)	p.F414F(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CAAAATGGTGGAACACCATCA	0.597																																						uc004bxh.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1240-1242)TTC>TTT		carnitine acetyltransferase precursor	L-Carnitine(DB00583)						85.0	84.0	84.0					9																	131860614		2203	4300	6503	SO:0001819	synonymous_variant	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131860614G>A	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.1242C>T	9.37:g.131860614G>A						CRAT_uc004bxg.2_Silent_p.F393F|CRAT_uc004bxk.3_Silent_p.F393F	p.F414F	NM_000755	NP_000746	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	10	1524	-			414					Q5T952|Q9BW16	Silent	SNP	ENST00000318080.2	37	c.1242C>T	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	G	10.00	1.233351	0.22626	.	.	ENSG00000095321	ENST00000455396	.	.	.	5.13	4.23	0.50019	.	.	.	.	.	T	0.58495	0.2126	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56141	-0.8028	4	.	.	.	-43.2514	8.2288	0.31587	0.2445:0.0:0.7555:0.0	.	.	.	.	S	13	.	.	P	-	1	0	CRAT	130900435	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.481000	0.35476	1.385000	0.46445	0.561000	0.74099	CCA		PASS	0.597	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			33	119	33	119	---	---	---	---
ABL1	25	broad.mit.edu	37	9	133760253	133760253	+	Nonsense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:133760253C>G	ENST00000318560.5	+	11	2957	c.2576C>G	c.(2575-2577)tCa>tGa	p.S859*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	859	Pro-rich.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.S859*(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	AAAGCAGGCTCAGGTGCACCA	0.652			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	uc004bzw.2				Dom	yes		9	9q34.1	25	T|Mis	v-abl Abelson murine leukemia viral oncogene homolog 1			L	BCR|ETV6|NUP214		CML|ALL|T-ALL		1	Substitution - Nonsense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817						c.(2575-2577)TCA>TGA		c-abl oncogene 1, receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						12.0	15.0	14.0					9																	133760253		2191	4274	6465	SO:0001587	stop_gained	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133760253C>G	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2576C>G	9.37:g.133760253C>G	ENSP00000323315:p.Ser859*					ABL1_uc004bzv.2_Nonsense_Mutation_p.S878*	p.S859*	NM_005157	NP_005148	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2579	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	859			Pro-rich.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Nonsense_Mutation	SNP	ENST00000318560.5	37	c.2576C>G	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	35	5.496221	0.96355	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	.	.	.	4.74	2.89	0.33648	.	0.871166	0.10105	N	0.715492	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	7.985	0.30207	0.0:0.746:0.0:0.254	.	.	.	.	X	674;878;859	.	ENSP00000323315:S859X	S	+	2	0	ABL1	132750074	0.199000	0.23386	0.001000	0.08648	0.006000	0.05464	2.425000	0.44723	0.442000	0.26555	-0.221000	0.12465	TCA		PASS	0.652	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		18	23	18	23	---	---	---	---
PRRC2B	84726	broad.mit.edu	37	9	134321843	134321843	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:134321843G>C	ENST00000357304.4	+	6	724	c.669G>C	c.(667-669)ctG>ctC	p.L223L	PRRC2B_ENST00000458550.1_Silent_p.L223L|PRRC2B_ENST00000372249.1_5'Flank|PRRC2B_ENST00000405995.1_Silent_p.L223L	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	223							poly(A) RNA binding (GO:0044822)	p.L223L(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCACGTCTCTGAGCACCTCCC	0.602																																						uc004can.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(667-669)CTG>CTC		HLA-B associated transcript 2-like							46.0	47.0	47.0					9																	134321843		1971	4146	6117	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134321843G>C	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.669G>C	9.37:g.134321843G>C						BAT2L1_uc010mzj.1_5'Flank|BAT2L1_uc004cam.1_Silent_p.L223L	p.L223L	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			6	724	+			223					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.669G>C	CCDS48044.1																																																																																				PASS	0.602	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				10	76	10	76	---	---	---	---
RAPGEF1	2889	broad.mit.edu	37	9	134501478	134501478	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:134501478C>G	ENST00000372189.3	-	10	1605	c.1482G>C	c.(1480-1482)caG>caC	p.Q494H	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.Q512H|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.Q511H|RAPGEF1_ENST00000481260.1_5'Flank	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	494					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.Q512H(1)|p.Q189H(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GGGCTGTGCTCTGCAGGTCCT	0.622																																						uc004cbc.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(1480-1482)CAG>CAC		guanine nucleotide-releasing factor 2 isoform a							60.0	69.0	66.0					9																	134501478		2101	4205	6306	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134501478C>G	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1482G>C	9.37:g.134501478C>G	ENSP00000361263:p.Gln494His					RAPGEF1_uc004cbb.2_Missense_Mutation_p.Q512H|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Missense_Mutation_p.Q499H|RAPGEF1_uc004cbd.2_Missense_Mutation_p.Q499H	p.Q494H	NM_005312	NP_005303	Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	10	1612	-		Myeloproliferative disorder(178;0.204)	494					Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.1482G>C	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.733187	0.30684	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000372191;ENST00000357686	T;T;T	0.26223	1.75;1.76;1.76	4.98	4.98	0.66077	.	0.554082	0.16523	N	0.210731	T	0.23649	0.0572	L	0.41236	1.265	0.32751	N	0.5064	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.11842	-1.0571	10	0.27082	T	0.32	.	15.8067	0.78520	0.0:1.0:0.0:0.0	.	511;494;512	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	H	494;511;388;494;512;474;420;189;511	ENSP00000361269:Q511H;ENSP00000361263:Q494H;ENSP00000361264:Q512H	ENSP00000266110:Q494H	Q	-	3	2	RAPGEF1	133491299	1.000000	0.71417	0.992000	0.48379	0.707000	0.40811	0.960000	0.29253	2.479000	0.83701	0.655000	0.94253	CAG		PASS	0.622	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		8	76	8	76	---	---	---	---
MED27	9442	broad.mit.edu	37	9	134814846	134814846	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:134814846C>T	ENST00000292035.5	-	4	558	c.495G>A	c.(493-495)gtG>gtA	p.V165V	MED27_ENST00000357028.2_Silent_p.V165V	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	165					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.V165V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		TGCGGCTGATCACATCATCAA	0.373																																					Colon(41;784 923 6932 42329 52483)	uc004cbe.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(493-495)GTG>GTA		mediator complex subunit 27							118.0	97.0	104.0					9																	134814846		2203	4300	6503	SO:0001819	synonymous_variant	9442				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity	g.chr9:134814846C>T	AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"""cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"""	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.495G>A	9.37:g.134814846C>T						MED27_uc004cbf.1_Silent_p.V165V|MED27_uc011mco.1_Silent_p.V165V|MED27_uc004cbg.3_Silent_p.V165V	p.V165V	NM_004269	NP_004260	Q6P2C8	MED27_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)	4	517	-		Myeloproliferative disorder(178;0.206)	165					O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Silent	SNP	ENST00000292035.5	37	c.495G>A	CCDS6945.1																																																																																				PASS	0.373	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	NM_004269		7	138	7	138	---	---	---	---
OLFM1	10439	broad.mit.edu	37	9	137967606	137967606	+	Silent	SNP	C	C	T	rs375788001		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:137967606C>T	ENST00000371799.4	+	1	339	c.54C>T	c.(52-54)ctC>ctT	p.L18L	OLFM1_ENST00000277415.11_Silent_p.L18L|OLFM1_ENST00000371801.4_Silent_p.L18L|OLFM1_ENST00000252854.4_Silent_p.L18L			Q99784	NOE1_HUMAN	olfactomedin 1	0					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)	p.L18L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GGAAGCTCCTCAGCCTCCTCT	0.687																																						uc004cfl.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(52-54)CTC>CTT		olfactomedin related ER localized protein		C	,	1,4405	2.1+/-5.4	0,1,2202	95.0	73.0	80.0		54,54	3.2	1.0	9		80	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	OLFM1	NM_006334.3,NM_014279.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	18/136,18/468	137967606	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:137967606C>T	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371799.4:c.54C>T	9.37:g.137967606C>T						OLFM1_uc010naq.1_Silent_p.L8L|OLFM1_uc004cfk.3_Silent_p.L18L	p.L18L	NM_014279	NP_055094	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	1	518	+		Myeloproliferative disorder(178;0.0333)	Error:Variant_position_missing_in_Q99784_after_alignment					Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Silent	SNP	ENST00000371799.4	37	c.54C>T																																																																																					PASS	0.687	OLFM1-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000054976.1	NM_014279		6	35	6	35	---	---	---	---
SNAPC4	6621	broad.mit.edu	37	9	139289860	139289860	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:139289860C>T	ENST00000298532.2	-	4	729	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.D121N(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCAGCCAGATCCCTCATGAGT	0.572																																						uc004chh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)GAT>AAT		small nuclear RNA activating complex,							97.0	94.0	95.0					9																	139289860		2203	4300	6503	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139289860C>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.361G>A	9.37:g.139289860C>T	ENSP00000298532:p.Asp121Asn						p.D121N	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	4	370	-		Myeloproliferative disorder(178;0.0511)	121			SNAPC5-binding.			Missense_Mutation	SNP	ENST00000298532.2	37	c.361G>A	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876737	0.51801	.	.	ENSG00000165684	ENST00000298532	T	0.29655	1.56	5.35	4.42	0.53409	.	0.229898	0.35124	N	0.003422	T	0.42268	0.1195	M	0.63428	1.95	0.29405	N	0.861634	D	0.54601	0.967	P	0.50314	0.637	T	0.47873	-0.9083	10	0.72032	D	0.01	-19.7879	14.7828	0.69779	0.0:0.8548:0.1452:0.0	.	121	Q5SXM2	SNPC4_HUMAN	N	121	ENSP00000298532:D121N	ENSP00000298532:D121N	D	-	1	0	SNAPC4	138409681	0.005000	0.15991	0.015000	0.15790	0.272000	0.26649	1.690000	0.37711	1.200000	0.43188	0.655000	0.94253	GAT		PASS	0.572	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		4	119	4	119	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139397647	139397647	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:139397647G>A	ENST00000277541.6	-	27	5229	c.5154C>T	c.(5152-5154)atC>atT	p.I1718I		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1718					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.1719_1720>QKGPLAAFLGALASLGSLTIPYLI(1)|p.I1718I(1)|p.I1719I(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCACGGCCTCGATCTTGTAGG	0.667			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2				Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		3	Substitution - coding silent(2)|Complex - insertion inframe(1)	p.1719_1720>QKGPLAAFLGALASLGSLTIPYLI(1)	lung(2)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(5152-5154)ATC>ATT		notch1 preproprotein							43.0	53.0	49.0					9																	139397647		2102	4218	6320	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139397647G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5154C>T	9.37:g.139397647G>A		HNSCC(8;0.001)				NOTCH1_uc004cia.1_Silent_p.I948I	p.I1718I	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	27	5154	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1718			Extracellular (Potential).		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.5154C>T	CCDS43905.1																																																																																				PASS	0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		11	78	11	78	---	---	---	---
EHMT1	79813	broad.mit.edu	37	9	140685343	140685343	+	Missense_Mutation	SNP	C	C	T	rs587780332		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:140685343C>T	ENST00000460843.1	+	16	2453	c.2426C>T	c.(2425-2427)cCg>cTg	p.P809L	EHMT1_ENST00000334856.6_Missense_Mutation_p.P778L|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	809					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.P778Q(1)|p.P809Q(1)|p.P809L(1)|p.P778L(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAGAGGACCCCGTTGATGGAA	0.557																																						uc011mfc.1																			4	Substitution - Missense(4)		lung(4)	breast(2)|pancreas(1)	3						c.(2425-2427)CCG>CTG		euchromatic histone-lysine N-methyltransferase 1							125.0	120.0	122.0					9																	140685343		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140685343C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2426C>T	9.37:g.140685343C>T	ENSP00000417980:p.Pro809Leu					EHMT1_uc004cob.1_Missense_Mutation_p.P778L	p.P809L	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	16	2463	+	all_cancers(76;0.164)		809			ANK 3.		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.2426C>T	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894143	0.72639	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000460843	T;T	0.73789	-0.49;-0.78	5.07	5.07	0.68467	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.85418	0.5692	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87097	0.2176	10	0.87932	D	0	.	18.0581	0.89369	0.0:1.0:0.0:0.0	.	809;778	Q9H9B1;Q9H9B1-2	EHMT1_HUMAN;.	L	778;778;809	ENSP00000334476:P778L;ENSP00000417980:P809L	ENSP00000334476:P778L	P	+	2	0	EHMT1	139805164	1.000000	0.71417	0.842000	0.33263	0.394000	0.30568	7.625000	0.83145	2.365000	0.80145	0.563000	0.77884	CCG		PASS	0.557	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		54	237	54	237	---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	140809200	140809200	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:140809200C>T	ENST00000371372.1	+	5	862	c.717C>T	c.(715-717)atC>atT	p.I239I	CACNA1B_ENST00000371355.4_Silent_p.I239I|CACNA1B_ENST00000371357.1_Silent_p.I239I|CACNA1B_ENST00000371363.1_Silent_p.I239I|CACNA1B_ENST00000277551.2_Silent_p.I239I|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	239					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.I239I(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGTTTGCCATCATTGGCCTGG	0.567																																						uc004cog.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|large_intestine(2)|ovary(1)	6						c.(715-717)ATC>ATT		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						115.0	113.0	113.0					9																	140809200		2132	4252	6384	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140809200C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.717C>T	9.37:g.140809200C>T							p.I239I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	5	862	+	all_cancers(76;0.166)		239			Helical; Name=S5 of repeat I; (Potential).|I.		B1AQK5	Silent	SNP	ENST00000371372.1	37	c.717C>T	CCDS59522.1																																																																																				PASS	0.567	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		14	89	14	89	---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	140948447	140948447	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr9:140948447G>C	ENST00000371372.1	+	26	4102	c.3957G>C	c.(3955-3957)gaG>gaC	p.E1319D	CACNA1B_ENST00000371355.4_Missense_Mutation_p.E1320D|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E1320D|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E1319D|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E1319D|CACNA1B_ENST00000277549.5_Missense_Mutation_p.E515D	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1319					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.E1319D(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGAGCTGGAGAGGGACTGCA	0.517																																						uc004cog.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|large_intestine(2)|ovary(1)	6						c.(3955-3957)GAG>GAC		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						136.0	141.0	140.0					9																	140948447		2093	4227	6320	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140948447G>C	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3957G>C	9.37:g.140948447G>C	ENSP00000360423:p.Glu1319Asp					CACNA1B_uc011mfd.1_Missense_Mutation_p.E849D|CACNA1B_uc004coi.2_Missense_Mutation_p.E533D	p.E1319D	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	26	4102	+	all_cancers(76;0.166)		1319			III.|Extracellular (Potential).		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.3957G>C	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101166	0.76983	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97455	-4.11;-4.11;-4.39;-4.11;-4.09;-4.1	4.36	4.36	0.52297	.	0.108661	0.64402	D	0.000007	D	0.97589	0.9210	L	0.49455	1.56	0.80722	D	1	B;D;D	0.64830	0.404;0.994;0.994	B;D;D	0.67231	0.116;0.95;0.95	D	0.98645	1.0677	10	0.72032	D	0.01	.	17.3015	0.87183	0.0:0.0:1.0:0.0	.	1319;1320;1319	B1AQK4;B1AQK7;B1AQK6	.;.;.	D	1319;1319;515;1319;1320;1320	ENSP00000360423:E1319D;ENSP00000277551:E1319D;ENSP00000277549:E515D;ENSP00000360414:E1319D;ENSP00000360408:E1320D;ENSP00000360406:E1320D	ENSP00000277549:E515D	E	+	3	2	CACNA1B	140068268	1.000000	0.71417	0.997000	0.53966	0.806000	0.45545	5.632000	0.67819	2.152000	0.67230	0.306000	0.20318	GAG		PASS	0.517	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		6	179	6	179	---	---	---	---
IDI2	91734	broad.mit.edu	37	10	1065729	1065729	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:1065729C>T	ENST00000277517.1	-	5	476	c.412G>A	c.(412-414)Gca>Aca	p.A138T	IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|GTPBP4_ENST00000360803.4_3'UTR	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	138	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)	p.A138T(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		TCTGATTTTGCCTTGTGGTGA	0.398																																						uc001ifv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(412-414)GCA>ACA		isopentenyl-diphosphate delta isomerase 2							136.0	118.0	124.0					10																	1065729		2203	4300	6503	SO:0001583	missense	91734				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1065729C>T	AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.412G>A	10.37:g.1065729C>T	ENSP00000277517:p.Ala138Thr					C10orf110_uc010qaf.1_5'Flank|C10orf110_uc001ifx.3_5'Flank|C10orf110_uc001ifw.3_5'Flank|C10orf110_uc001ify.3_5'Flank	p.A138T	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)	5	477	-		Colorectal(49;0.235)	138			Nudix hydrolase.			Missense_Mutation	SNP	ENST00000277517.1	37	c.412G>A	CCDS7055.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118564	0.56505	.	.	ENSG00000148377	ENST00000277517	T	0.06933	3.24	3.55	-3.98	0.04082	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.407815	0.26126	U	0.026194	T	0.12603	0.0306	M	0.83312	2.635	0.09310	N	0.999996	P	0.51449	0.945	P	0.48400	0.576	T	0.03784	-1.1004	10	0.87932	D	0	-1.232	3.8123	0.08802	0.4436:0.3406:0.0:0.2158	.	138	Q9BXS1	IDI2_HUMAN	T	138	ENSP00000277517:A138T	ENSP00000277517:A138T	A	-	1	0	IDI2	1055729	0.675000	0.27558	0.000000	0.03702	0.695000	0.40330	0.787000	0.26858	-1.016000	0.03371	0.185000	0.17295	GCA		PASS	0.398	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1	NM_033261		4	205	4	205	---	---	---	---
CELF2	10659	broad.mit.edu	37	10	11259437	11259437	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:11259437G>A	ENST00000379261.4	+	3	392	c.300G>A	c.(298-300)caG>caA	p.Q100Q	CELF2_ENST00000608830.1_Silent_p.Q76Q|CELF2_ENST00000315874.4_Silent_p.Q76Q|CELF2_ENST00000537122.1_Intron|CELF2_ENST00000427450.1_Silent_p.Q76Q|CELF2_ENST00000416382.2_Silent_p.Q100Q|CELF2_ENST00000542579.1_Silent_p.Q107Q|CELF2_ENST00000609692.1_Silent_p.Q76Q|CELF2_ENST00000417956.2_Silent_p.Q76Q|CELF2_ENST00000399850.3_Silent_p.Q76Q|CELF2_ENST00000450189.1_Silent_p.Q107Q|CELF2_ENST00000354897.3_Silent_p.Q76Q|CELF2_ENST00000354440.2_Silent_p.Q76Q	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	100	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q95Q(1)|p.Q100Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TTGAGGCCCAGAATGCACTGC	0.363																																						uc001iki.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(298-300)CAG>CAA		CUG triplet repeat, RNA binding protein 2							127.0	124.0	125.0					10																	11259437		1849	4088	5937	SO:0001819	synonymous_variant	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11259437G>A	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.300G>A	10.37:g.11259437G>A						CELF2_uc010qbi.1_Intron|CELF2_uc010qbj.1_Silent_p.Q100Q|CELF2_uc001ikk.2_Silent_p.Q107Q|CELF2_uc001ikl.3_Silent_p.Q107Q|CELF2_uc010qbk.1_RNA|CELF2_uc010qbl.1_Silent_p.Q76Q|CELF2_uc010qbm.1_Intron|CELF2_uc001iko.3_Silent_p.Q76Q|CELF2_uc001ikp.3_Silent_p.Q76Q|CELF2_uc010qbn.1_Silent_p.Q84Q|CELF2_uc009xiw.1_Intron|CELF2_uc010qbo.1_Intron|CELF2_uc010qbp.1_Intron	p.Q100Q	NM_001025077	NP_001020248	O95319	CELF2_HUMAN			3	392	+			100			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	ENST00000379261.4	37	c.300G>A	CCDS44354.1																																																																																				PASS	0.363	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				7	128	7	128	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17026276	17026276	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:17026276G>A	ENST00000377833.4	-	30	4418	c.4353C>T	c.(4351-4353)atC>atT	p.I1451I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1451	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.I1451I(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)	GGCCTCCATAGATCTAACATG	0.473																																						uc001ioo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(4351-4353)ATC>ATT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						59.0	58.0	58.0					10																	17026276		2203	4300	6503	SO:0001819	synonymous_variant	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.chr10:17026276G>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.4353C>T	10.37:g.17026276G>A							p.I1451I	NM_001081	NP_001072	O60494	CUBN_HUMAN			30	4405	-			1451			CUB 9.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.4353C>T	CCDS7113.1																																																																																				PASS	0.473	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		5	135	5	135	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17087132	17087132	+	Silent	SNP	C	C	G	rs369417721		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:17087132C>G	ENST00000377833.4	-	25	3611	c.3546G>C	c.(3544-3546)ccG>ccC	p.P1182P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1182	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.P1182P(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)	AATAGGGCATCGGGTAGTTGG	0.493																																						uc001ioo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(3544-3546)CCG>CCC		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						167.0	154.0	158.0					10																	17087132		2203	4300	6503	SO:0001819	synonymous_variant	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.chr10:17087132C>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3546G>C	10.37:g.17087132C>G							p.P1182P	NM_001081	NP_001072	O60494	CUBN_HUMAN			25	3598	-			1182			CUB 7.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.3546G>C	CCDS7113.1																																																																																				PASS	0.493	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		53	64	53	64	---	---	---	---
NSUN6	221078	broad.mit.edu	37	10	18834947	18834947	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:18834947G>T	ENST00000377304.4	-	11	1743	c.1325C>A	c.(1324-1326)gCc>gAc	p.A442D	RP11-499P20.2_ENST00000425669.1_RNA|NSUN6_ENST00000493816.1_5'Flank|RP11-499P20.2_ENST00000436485.1_RNA	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	442							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.A442D(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TTCTCTTCTGGCCTCTCTAAG	0.458																																						uc010qcp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1324-1326)GCC>GAC		NOL1/NOP2/Sun domain family, member 6							155.0	154.0	155.0					10																	18834947		2203	4300	6503	SO:0001583	missense	221078						methyltransferase activity|RNA binding	g.chr10:18834947G>T	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.1325C>A	10.37:g.18834947G>T	ENSP00000366519:p.Ala442Asp					NSUN6_uc001iqb.2_5'Flank	p.A442D	NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN			11	1743	-			442					B0YJ54	Missense_Mutation	SNP	ENST00000377304.4	37	c.1325C>A	CCDS7130.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296483	0.23650	.	.	ENSG00000241058	ENST00000377304	T	0.32272	1.46	5.8	5.8	0.92144	.	0.379904	0.27004	N	0.021416	T	0.14485	0.0350	N	0.08118	0	0.44523	D	0.997475	B	0.06786	0.001	B	0.04013	0.001	T	0.20140	-1.0284	10	0.13108	T	0.6	.	9.7747	0.40612	0.0745:0.1414:0.784:0.0	.	442	Q8TEA1	NSUN6_HUMAN	D	442	ENSP00000366519:A442D	ENSP00000366519:A442D	A	-	2	0	NSUN6	18874953	0.994000	0.37717	0.763000	0.31416	0.026000	0.11368	2.708000	0.47152	2.752000	0.94435	0.655000	0.94253	GCC		PASS	0.458	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543		53	393	53	393	---	---	---	---
ARMC3	219681	broad.mit.edu	37	10	23248443	23248443	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:23248443G>A	ENST00000298032.5	+	6	561	c.477G>A	c.(475-477)ctG>ctA	p.L159L	ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000409983.3_Silent_p.L159L|ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409049.3_Silent_p.L159L	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	159						extracellular vesicular exosome (GO:0070062)		p.L159L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCAGACTACTGAGTAGCCCTG	0.403																																						uc001irm.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(475-477)CTG>CTA		armadillo repeat containing 3							57.0	56.0	56.0					10																	23248443		2203	4300	6503	SO:0001819	synonymous_variant	219681						binding	g.chr10:23248443G>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.477G>A	10.37:g.23248443G>A						ARMC3_uc010qcv.1_Silent_p.L159L|ARMC3_uc010qcw.1_Intron|ARMC3_uc001irn.1_Silent_p.L71L	p.L159L	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			6	560	+			159			ARM 4.		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Silent	SNP	ENST00000298032.5	37	c.477G>A	CCDS7142.1																																																																																				PASS	0.403	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		17	122	17	122	---	---	---	---
ARHGAP21	57584	broad.mit.edu	37	10	24886905	24886905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:24886905G>A	ENST00000396432.2	-	15	3652	c.3166C>T	c.(3166-3168)Cga>Tga	p.R1056*	ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R843*|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1055	Interaction with ARF1 and ARF6.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.R1055*(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTTATTCTTCGACTAATTAGA	0.338																																						uc001isb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|pancreas(1)	8						c.(3166-3168)CGA>TGA		Rho GTPase activating protein 21							180.0	170.0	173.0					10																	24886905		2203	4300	6503	SO:0001587	stop_gained	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24886905G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3166C>T	10.37:g.24886905G>A	ENSP00000379709:p.Arg1056*					ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Nonsense_Mutation_p.R1056*|ARHGAP21_uc010qdc.1_Nonsense_Mutation_p.R891*	p.R1056*	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			15	3653	-			1055			Interaction with ARF1 and ARF6.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Nonsense_Mutation	SNP	ENST00000396432.2	37	c.3166C>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	45	11.298239	0.99543	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	.	.	.	5.87	5.87	0.94306	.	0.172159	0.48286	D	0.000186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3178	0.74095	0.0:0.0:0.8602:0.1398	.	.	.	.	X	1056;843;1046;1056;891	.	ENSP00000365604:R843X	R	-	1	2	ARHGAP21	24926911	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.697000	0.54764	2.941000	0.99782	0.655000	0.94253	CGA		PASS	0.338	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		27	210	27	210	---	---	---	---
BAMBI	25805	broad.mit.edu	37	10	28970465	28970465	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:28970465G>A	ENST00000375533.3	+	2	911	c.355G>A	c.(355-357)Gag>Aag	p.E119K		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	119					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)	p.E119K(1)		central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						TCCCAGGGGTGAGGCCTCAGG	0.498																																						uc001iuj.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)	4						c.(355-357)GAG>AAG		BMP and activin membrane-bound inhibitor							71.0	79.0	77.0					10																	28970465		2203	4300	6503	SO:0001583	missense	25805				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding	g.chr10:28970465G>A	U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"""BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"""			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.355G>A	10.37:g.28970465G>A	ENSP00000364683:p.Glu119Lys					BAMBI_uc001iui.2_Missense_Mutation_p.E119K	p.E119K	NM_012342	NP_036474	Q13145	BAMBI_HUMAN			2	758	+			119			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000375533.3	37	c.355G>A	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268455	0.59540	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	.	.	.	5.65	5.65	0.86999	.	0.467978	0.26418	N	0.024497	T	0.50837	0.1639	N	0.22421	0.69	0.58432	D	0.999999	B;B	0.18013	0.025;0.025	B;B	0.15870	0.014;0.014	T	0.40534	-0.9558	9	0.21540	T	0.41	-5.4105	19.7198	0.96137	0.0:0.0:1.0:0.0	.	119;119	Q13145;Q53G66	BAMBI_HUMAN;.	K	119;106	.	ENSP00000364683:E119K	E	+	1	0	BAMBI	29010471	1.000000	0.71417	0.940000	0.37924	0.998000	0.95712	9.427000	0.97472	2.668000	0.90789	0.655000	0.94253	GAG		PASS	0.498	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342		6	143	6	143	---	---	---	---
CCDC7	79741	broad.mit.edu	37	10	33015711	33015711	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:33015711C>G	ENST00000375030.2	+	11	1182	c.564C>G	c.(562-564)ctC>ctG	p.L188L	C10orf68_ENST00000375028.3_Silent_p.L156L|C10orf68_ENST00000375025.4_Silent_p.L180L			Q9H943	CJ068_HUMAN		180								p.L180L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TGTCAAAACTCCAAATGCAAG	0.274																																						uc001iwn.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(538-540)CTC>CTG		chromosome 10 open reading frame 68							51.0	55.0	54.0					10																	33015711		2203	4291	6494	SO:0001819	synonymous_variant	79741							g.chr10:33015711C>G																												ENST00000375030.2:c.564C>G	10.37:g.33015711C>G						C10orf68_uc001iwl.1_Silent_p.L188L|C10orf68_uc001iwm.1_Silent_p.L156L|C10orf68_uc010qei.1_Silent_p.L107L|C10orf68_uc001iwo.3_5'Flank	p.L180L	NM_024688	NP_078964	Q9H943	CJ068_HUMAN			8	1013	+			180					B0QZ71|Q08AN7|Q8N7T7	Silent	SNP	ENST00000375030.2	37	c.540C>G																																																																																					PASS	0.274	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			6	76	6	76	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37508127	37508127	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:37508127C>T	ENST00000602533.1	+	34	3418	c.3319C>T	c.(3319-3321)Caa>Taa	p.Q1107*	ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.Q1107*|ANKRD30A_ENST00000374660.1_Nonsense_Mutation_p.Q1226*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1163					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q1107*(1)|p.Q1107K(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGGGCATCTCAATATAGTGG	0.328																																						uc001iza.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	ovary(7)|breast(1)|skin(1)	9						c.(3319-3321)CAA>TAA		ankyrin repeat domain 30A							131.0	131.0	131.0					10																	37508127		1827	4077	5904	SO:0001587	stop_gained	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508127C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3319C>T	10.37:g.37508127C>T	ENSP00000473551:p.Gln1107*						p.Q1107*	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	3418	+			1163			Potential.		Q5W025	Nonsense_Mutation	SNP	ENST00000602533.1	37	c.3319C>T		.	.	.	.	.	.	.	.	.	.	c	27.0	4.795488	0.90453	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	.	.	.	2.81	-0.889	0.10580	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9925	0.24763	0.1774:0.4856:0.3369:0.0	.	.	.	.	X	1107;1226	.	ENSP00000354432:Q1107X	Q	+	1	0	ANKRD30A	37548133	0.935000	0.31712	0.000000	0.03702	0.002000	0.02628	2.903000	0.48711	-0.030000	0.13804	-0.713000	0.03633	CAA		PASS	0.328	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		148	224	148	224	---	---	---	---
ZNF485	220992	broad.mit.edu	37	10	44104188	44104188	+	Splice_Site	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:44104188G>T	ENST00000361807.3	+	3	345	c.151G>T	c.(151-153)Ggg>Tgg	p.G51W	ZNF485_ENST00000374435.3_Splice_Site_p.G51W|ZNF485_ENST00000374437.2_Intron	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	51	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.G12W(1)|p.G51W(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GGTGTCTGTGGGTGAGGATGG	0.498																																						uc010qfc.1																			2	Substitution - Missense(2)		lung(2)		0						c.(151-153)GGG>TGG		zinc finger protein 485							246.0	204.0	218.0					10																	44104188		2203	4300	6503	SO:0001630	splice_region_variant	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44104188G>T	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.151+1G>T	10.37:g.44104188G>T						ZNF485_uc010qfd.1_Intron	p.G51W	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN			3	345	+			51			KRAB.		B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.151G>T	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748632	0.49257	.	.	ENSG00000198298	ENST00000361807;ENST00000430885;ENST00000374435	T;T;T	0.03004	4.08;4.08;4.08	2.96	2.96	0.34315	Krueppel-associated box (4);	.	.	.	.	T	0.24160	0.0585	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.21177	-1.0253	9	0.87932	D	0	.	11.712	0.51630	0.0:0.0:1.0:0.0	.	51	Q8NCK3	ZN485_HUMAN	W	51	ENSP00000354694:G51W;ENSP00000393570:G51W;ENSP00000363558:G51W	ENSP00000354694:G51W	G	+	1	0	ZNF485	43424194	1.000000	0.71417	0.181000	0.23098	0.797000	0.45037	3.214000	0.51161	1.654000	0.50703	0.462000	0.41574	GGG		PASS	0.498	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312	Missense_Mutation	9	92	9	92	---	---	---	---
OR13A1	79290	broad.mit.edu	37	10	45799724	45799724	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:45799724G>A	ENST00000553795.1	-	4	455	c.147C>T	c.(145-147)ttC>ttT	p.F49F	OR13A1_ENST00000536058.1_Silent_p.F49F|OR13A1_ENST00000374401.2_Silent_p.F49F	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F49F(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AGAGGAAGAGGAAACAGCTGA	0.517																																						uc001jcc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(145-147)TTC>TTT		olfactory receptor, family 13, subfamily A,							80.0	92.0	88.0					10																	45799724		2203	4300	6503	SO:0001819	synonymous_variant	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799724G>A	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.147C>T	10.37:g.45799724G>A						OR13A1_uc001jcd.1_Silent_p.F45F	p.F49F	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN			4	456	-			49			Helical; Name=1; (Potential).		Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Silent	SNP	ENST00000553795.1	37	c.147C>T	CCDS31188.1																																																																																				PASS	0.517	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		11	94	11	94	---	---	---	---
ZFAND4	93550	broad.mit.edu	37	10	46121658	46121658	+	Missense_Mutation	SNP	G	G	A	rs370441734		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:46121658G>A	ENST00000344646.5	-	7	1828	c.1613C>T	c.(1612-1614)tCt>tTt	p.S538F	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374366.3_Missense_Mutation_p.S464F|ZFAND4_ENST00000374371.2_Intron	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	538							zinc ion binding (GO:0008270)	p.S538F(1)									AATAACATCAGATCTTTTCCC	0.378																																						uc001jcp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1612-1614)TCT>TTT		AN1, ubiquitin-like, homolog		G	PHE/SER,PHE/SER	0,4406		0,0,2203	84.0	87.0	86.0		1613,1613	5.7	1.0	10		86	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ANUBL1	NM_001128324.1,NM_174890.2	155,155	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	538/728,538/728	46121658	1,13005	2203	4300	6503	SO:0001583	missense	93550						zinc ion binding	g.chr10:46121658G>A	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1613C>T	10.37:g.46121658G>A	ENSP00000339484:p.Ser538Phe					ANUBL1_uc001jcl.3_Missense_Mutation_p.S58F|ANUBL1_uc001jcm.3_Missense_Mutation_p.S538F|ANUBL1_uc009xmu.2_Missense_Mutation_p.S464F|ANUBL1_uc001jcn.3_Missense_Mutation_p.S464F|ANUBL1_uc001jco.3_Intron	p.S538F	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN			7	1855	-			538					A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	c.1613C>T	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382381	0.82792	0.0	1.16E-4	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.25250	1.82;1.81	5.73	5.73	0.89815	.	6.681150	0.00748	N	0.001059	T	0.52661	0.1748	M	0.71581	2.175	0.48901	D	0.999722	D	0.54397	0.966	P	0.54401	0.751	T	0.28618	-1.0038	10	0.59425	D	0.04	-4.1807	17.3955	0.87444	0.0:0.0:1.0:0.0	.	538	Q86XD8	ANUB1_HUMAN	F	538;464;420	ENSP00000339484:S538F;ENSP00000363486:S464F	ENSP00000339484:S538F	S	-	2	0	ANUBL1	45441664	1.000000	0.71417	0.981000	0.43875	0.981000	0.71138	6.025000	0.70864	2.707000	0.92482	0.561000	0.74099	TCT		PASS	0.378	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		22	230	22	230	---	---	---	---
SYT15	83849	broad.mit.edu	37	10	46968611	46968611	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:46968611G>A	ENST00000374321.4	-	3	391	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	SYT15_ENST00000503753.1_Silent_p.L109L|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_Silent_p.L109L|SYT15_ENST00000374323.4_Silent_p.L162L	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L109L(2)|p.L161L(1)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGAGGCAGCAGCTCTGATGCC	0.667																																					Ovarian(57;1152 1428 19651 37745)	uc001jea.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(325-327)CTG>TTG		synaptotagmin XV isoform a							28.0	36.0	34.0					10																	46968611		2096	4210	6306	SO:0001819	synonymous_variant	83849					integral to membrane|plasma membrane		g.chr10:46968611G>A	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.325C>T	10.37:g.46968611G>A						SYT15_uc001jdz.2_Silent_p.L109L|SYT15_uc001jeb.2_5'UTR|SYT15_uc010qfp.1_5'Flank	p.L109L	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN			3	478	-			109			Cytoplasmic (Potential).		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	ENST00000374321.4	37	c.325C>T	CCDS44376.1																																																																																				PASS	0.667	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		5	52	5	52	---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49393641	49393641	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:49393641C>T	ENST00000374201.3	-	18	2616	c.2314G>A	c.(2314-2316)Gaa>Aaa	p.E772K	FRMPD2_ENST00000305531.3_Missense_Mutation_p.E747K|FRMPD2_ENST00000407470.4_Missense_Mutation_p.E740K	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	772					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.E772K(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CGTACAATTTCTCGGCCCGGT	0.493																																						uc001jgi.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(2314-2316)GAA>AAA		FERM and PDZ domain containing 2 isoform 3							188.0	165.0	173.0					10																	49393641		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49393641C>T	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2314G>A	10.37:g.49393641C>T	ENSP00000363317:p.Glu772Lys					FRMPD2_uc001jgh.2_Missense_Mutation_p.E740K|FRMPD2_uc001jgj.2_Missense_Mutation_p.E750K	p.E772K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	18	2421	-			772					B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.2314G>A	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428852	0.83667	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.40476	1.03;1.03;1.03	5.44	5.44	0.79542	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.48572	0.1507	L	0.27053	0.805	0.38970	D	0.958735	D;D;D	0.65815	0.979;0.995;0.979	P;P;P	0.58970	0.801;0.849;0.801	T	0.53493	-0.8431	9	0.66056	D	0.02	.	16.4041	0.83652	0.0:1.0:0.0:0.0	.	747;772;740	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	K	772;747;740	ENSP00000363317:E772K;ENSP00000307079:E747K;ENSP00000384339:E740K	ENSP00000307079:E747K	E	-	1	0	FRMPD2	49063647	0.998000	0.40836	0.098000	0.21074	0.039000	0.13416	4.888000	0.63164	2.557000	0.86248	0.655000	0.94253	GAA		PASS	0.493	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		9	121	9	121	---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49400861	49400861	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:49400861C>G	ENST00000374201.3	-	16	2333	c.2031G>C	c.(2029-2031)caG>caC	p.Q677H	FRMPD2_ENST00000305531.3_Missense_Mutation_p.Q652H|FRMPD2_ENST00000407470.4_Missense_Mutation_p.Q645H	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	677					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.Q677H(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATGACAATCTCTGAATCCAAA	0.473																																						uc001jgi.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(2029-2031)CAG>CAC		FERM and PDZ domain containing 2 isoform 3							96.0	88.0	91.0					10																	49400861		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49400861C>G	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2031G>C	10.37:g.49400861C>G	ENSP00000363317:p.Gln677His					FRMPD2_uc001jgh.2_Missense_Mutation_p.Q645H|FRMPD2_uc001jgj.2_Missense_Mutation_p.Q655H	p.Q677H	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	16	2138	-			677					B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.2031G>C	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247095	0.59103	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	D;D;D	0.81821	-1.54;-1.54;-1.54	4.7	3.78	0.43462	.	.	.	.	.	T	0.80486	0.4632	L	0.27053	0.805	0.26779	N	0.969639	D;B;D	0.69078	0.997;0.355;0.997	P;B;P	0.60473	0.875;0.067;0.875	T	0.70472	-0.4862	9	0.51188	T	0.08	.	11.1387	0.48390	0.0:0.9077:0.0:0.0923	.	652;677;645	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	H	677;652;645	ENSP00000363317:Q677H;ENSP00000307079:Q652H;ENSP00000384339:Q645H	ENSP00000307079:Q652H	Q	-	3	2	FRMPD2	49070867	1.000000	0.71417	0.977000	0.42913	0.743000	0.42351	1.478000	0.35442	2.336000	0.79503	0.655000	0.94253	CAG		PASS	0.473	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		30	121	30	121	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55568917	55568917	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:55568917G>A	ENST00000395445.1	-	36	5287	c.4893C>T	c.(4891-4893)ccC>ccT	p.P1631P	PCDH15_ENST00000395446.1_Silent_p.P827P|PCDH15_ENST00000395440.1_Silent_p.P565P|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395442.1_Silent_p.P496P|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000414778.1_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCTCCTCAGAGGGTGTCTCTG	0.463										HNSCC(58;0.16)																												uc010qhs.1																			0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4906-4908)CCC>CCT		protocadherin 15 isoform CD2-1 precursor							132.0	110.0	117.0					10																	55568917		1568	3582	5150	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55568917G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.4893C>T	10.37:g.55568917G>A		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Silent_p.P1629P|PCDH15_uc010qhu.1_3'UTR	p.P1636P	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN			37	5303	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000395445.1	37	c.4908C>T																																																																																					PASS	0.463	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		12	103	12	103	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55663038	55663038	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:55663038C>T	ENST00000320301.6	-	26	3860	c.3466G>A	c.(3466-3468)Gat>Aat	p.D1156N	PCDH15_ENST00000395432.2_Missense_Mutation_p.D1119N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1156N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1156N|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.D1163N|PCDH15_ENST00000409834.1_Missense_Mutation_p.D767N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1156N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1163N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1134N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1085N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1161N	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1156	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.D1156N(2)|p.D1161N(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATTCTTGCATCTTCAGATACA	0.363										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(3466-3468)GAT>AAT		protocadherin 15 isoform CD1-4 precursor							90.0	86.0	87.0					10																	55663038		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55663038C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3466G>A	10.37:g.55663038C>T	ENSP00000322604:p.Asp1156Asn	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.D1161N|PCDH15_uc010qhr.1_Missense_Mutation_p.D1156N|PCDH15_uc010qhs.1_Missense_Mutation_p.D1168N|PCDH15_uc010qht.1_Missense_Mutation_p.D1163N|PCDH15_uc010qhu.1_Missense_Mutation_p.D1156N|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.D1156N|PCDH15_uc010qhw.1_Missense_Mutation_p.D1119N|PCDH15_uc010qhx.1_Missense_Mutation_p.D1085N|PCDH15_uc010qhy.1_Missense_Mutation_p.D1161N|PCDH15_uc010qhz.1_Missense_Mutation_p.D1156N|PCDH15_uc010qia.1_Missense_Mutation_p.D1134N|PCDH15_uc010qib.1_Missense_Mutation_p.D1134N	p.D1156N	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			26	3861	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1156			Cadherin 11.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3466G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	c	19.57	3.852477	0.71719	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.01	5.01	0.66863	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.48132	0.1483	N	0.16743	0.435	0.80722	D	1	D;D;D;P;D;P;D;B;D;D;B;D;D	0.76494	0.973;0.999;0.996;0.725;0.999;0.924;0.973;0.263;0.992;0.992;0.338;0.996;0.965	D;D;D;P;D;P;D;B;D;D;B;D;P	0.79108	0.947;0.986;0.976;0.512;0.992;0.789;0.947;0.426;0.986;0.986;0.394;0.986;0.855	T	0.44620	-0.9316	9	0.27785	T	0.31	.	17.0742	0.86582	0.0:1.0:0.0:0.0	.	1134;1156;1156;1161;1085;1119;1156;1156;1163;1163;1156;1161;1156	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	N	1163;1161;1156;1156;767;1163;1119;1156;1134;1156;1156;1161;1085	ENSP00000363076:D1163N;ENSP00000410304:D1161N;ENSP00000378826:D1156N;ENSP00000386693:D767N;ENSP00000378832:D1163N;ENSP00000378820:D1119N;ENSP00000354950:D1156N;ENSP00000378821:D1134N;ENSP00000322604:D1156N;ENSP00000378818:D1156N;ENSP00000412628:D1085N	ENSP00000322604:D1156N	D	-	1	0	PCDH15	55333044	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.668000	0.74457	2.317000	0.78254	0.430000	0.28490	GAT		PASS	0.363	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		32	88	32	88	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55944935	55944935	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:55944935G>A	ENST00000320301.6	-	12	1793	c.1399C>T	c.(1399-1401)Caa>Taa	p.Q467*	PCDH15_ENST00000395432.2_Nonsense_Mutation_p.Q430*|PCDH15_ENST00000395446.1_Nonsense_Mutation_p.Q467*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.Q467*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373955.1_Nonsense_Mutation_p.Q467*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.Q467*|PCDH15_ENST00000373957.3_Nonsense_Mutation_p.Q445*|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.Q474*|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.Q78*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.Q467*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.Q474*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.Q445*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.Q467*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.Q472*	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	467	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.			Q -> L (in Ref. 1; AAK31581). {ECO:0000305}.	equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.Q467*(2)|p.Q472*(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCACTGGTTGAAGTAAGGTG	0.393										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - Nonsense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(1399-1401)CAA>TAA		protocadherin 15 isoform CD1-4 precursor							178.0	151.0	160.0					10																	55944935		2203	4300	6503	SO:0001587	stop_gained	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55944935G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1399C>T	10.37:g.55944935G>A	ENSP00000322604:p.Gln467*	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Nonsense_Mutation_p.Q472*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.Q467*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.Q479*|PCDH15_uc010qht.1_Nonsense_Mutation_p.Q474*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.Q467*|PCDH15_uc001jjv.1_Nonsense_Mutation_p.Q445*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.Q467*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.Q430*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.Q467*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.Q472*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.Q467*|PCDH15_uc010qia.1_Nonsense_Mutation_p.Q445*|PCDH15_uc010qib.1_Nonsense_Mutation_p.Q445*|PCDH15_uc001jjw.2_Nonsense_Mutation_p.Q467*	p.Q467*	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			12	1794	-		Melanoma(3;0.117)|Lung SC(717;0.238)	467	Q -> L (in Ref. 1; AAK31581).		Cadherin 4.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	ENST00000320301.6	37	c.1399C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	42	9.614857	0.99220	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	18.0547	0.89361	0.0:0.0:1.0:0.0	.	.	.	.	X	474;472;467;467;78;474;467;430;467;445;445;467;467;472;467;467	.	ENSP00000322604:Q467X	Q	-	1	0	PCDH15	55614941	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.260000	0.58835	2.638000	0.89438	0.591000	0.81541	CAA		PASS	0.393	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		24	144	24	144	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61833437	61833437	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:61833437T>A	ENST00000280772.2	-	37	7393	c.7202A>T	c.(7201-7203)gAg>gTg	p.E2401V	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2401					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.E2401V(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGGCAATGACTCTTCAGCAGT	0.428																																						uc001jky.2																			1	Substitution - Missense(1)		lung(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(7201-7203)GAG>GTG		ankyrin 3 isoform 1							66.0	67.0	67.0					10																	61833437		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61833437T>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7202A>T	10.37:g.61833437T>A	ENSP00000280772:p.Glu2401Val					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.E2401V	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	7394	-			2401					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.7202A>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.777157	0.70107	.	.	ENSG00000151150	ENST00000280772	T	0.73258	-0.73	5.7	5.7	0.88788	.	0.000000	0.42682	D	0.000676	T	0.82204	0.4986	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.82665	-0.0345	10	0.49607	T	0.09	.	15.9672	0.79984	0.0:0.0:0.0:1.0	.	2401	Q12955	ANK3_HUMAN	V	2401	ENSP00000280772:E2401V	ENSP00000280772:E2401V	E	-	2	0	ANK3	61503443	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.031000	0.88826	2.181000	0.69327	0.460000	0.39030	GAG		PASS	0.428	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		36	110	36	110	---	---	---	---
TMEM26	219623	broad.mit.edu	37	10	63170105	63170105	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:63170105G>A	ENST00000399298.3	-	6	1450	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	361						integral component of membrane (GO:0016021)		p.S361F(1)		kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GGAGTCGTCGGAGGTGACTGG	0.582																																						uc001jlo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1081-1083)TCC>TTC		transmembrane protein 26							45.0	55.0	52.0					10																	63170105		1883	4112	5995	SO:0001583	missense	219623					integral to membrane		g.chr10:63170105G>A	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.1082C>T	10.37:g.63170105G>A	ENSP00000382237:p.Ser361Phe					TMEM26_uc010qij.1_RNA|TMEM26_uc001jlp.1_RNA	p.S361F	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN			6	1451	-	Prostate(12;0.0112)		361					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.1082C>T	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273668	0.40194	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.52	3.61	0.41365	.	0.580104	0.15791	N	0.244432	T	0.23572	0.0570	L	0.27053	0.805	0.09310	N	0.999996	P	0.42409	0.779	B	0.36808	0.233	T	0.05500	-1.0881	9	0.51188	T	0.08	-9.7488	9.1852	0.37165	0.0759:0.2767:0.6474:0.0	.	361	Q6ZUK4	TMM26_HUMAN	F	361	.	ENSP00000382237:S361F	S	-	2	0	TMEM26	62840111	0.008000	0.16893	0.010000	0.14722	0.048000	0.14542	1.460000	0.35244	0.682000	0.31407	0.551000	0.68910	TCC		PASS	0.582	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		4	91	4	91	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64967434	64967434	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:64967434C>G	ENST00000399262.2	-	10	4213	c.3995G>C	c.(3994-3996)aGa>aCa	p.R1332T	JMJD1C_ENST00000399251.1_Missense_Mutation_p.R1113T|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R1150T|JMJD1C_ENST00000402544.1_Missense_Mutation_p.R1113T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1332					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.R1332T(1)|p.R1113T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGCTGAAGATCTTTCACTAAC	0.428																																						uc001jmn.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(3994-3996)AGA>ACA		jumonji domain containing 1C isoform a							122.0	112.0	115.0					10																	64967434		1883	4110	5993	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64967434C>G	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3995G>C	10.37:g.64967434C>G	ENSP00000382204:p.Arg1332Thr					JMJD1C_uc001jml.2_Missense_Mutation_p.R1113T|JMJD1C_uc001jmm.2_Missense_Mutation_p.R1044T|JMJD1C_uc010qiq.1_Missense_Mutation_p.R1150T|JMJD1C_uc009xpi.2_Missense_Mutation_p.R1150T|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.R369T	p.R1332T	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			10	4295	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1332					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.3995G>C	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.39|15.39	2.818531|2.818531	0.50633|0.50633	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000327520|ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.|T;T;T;T	.|0.60548	.|0.53;0.18;2.1;0.53	5.94|5.94	3.12|3.12	0.35913|0.35913	.|.	.|0.393283	.|0.30639	.|N	.|0.009191	T|T	0.64789|0.64789	0.2630|0.2630	L|L	0.59436|0.59436	1.845|1.845	0.42816|0.42816	D|D	0.993975|0.993975	.|D;D;D	.|0.71674	.|0.969;0.995;0.998	.|P;P;P	.|0.59546	.|0.663;0.859;0.859	T|T	0.62798|0.62798	-0.6778|-0.6778	5|10	.|0.49607	.|T	.|0.09	-13.4071|-13.4071	8.9751|8.9751	0.35930|0.35930	0.0:0.7223:0.0:0.2777|0.0:0.7223:0.0:0.2777	.|.	.|873;1332;1150	.|A6PW35;Q15652;A0T124	.|.;JHD2C_HUMAN;.	H|T	18|1332;1113;1113;1150	.|ENSP00000382204:R1332T;ENSP00000384990:R1113T;ENSP00000382195:R1113T;ENSP00000444682:R1150T	.|ENSP00000382195:R1113T	D|R	-|-	1|2	0|0	JMJD1C|JMJD1C	64637440|64637440	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.924000|2.924000	0.48876|0.48876	0.415000|0.415000	0.25817|0.25817	0.591000|0.591000	0.81541|0.81541	GAT|AGA		PASS	0.428	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		88	263	88	263	---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69934214	69934214	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:69934214C>A	ENST00000358913.5	+	11	2853	c.2365C>A	c.(2365-2367)Cca>Aca	p.P789T	MYPN_ENST00000354393.2_Missense_Mutation_p.P514T|MYPN_ENST00000540630.1_Missense_Mutation_p.P789T	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	789	Pro-rich.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.P789T(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CCCACCAGGCCCAACAGAACC	0.542																																						uc001jnm.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(2365-2367)CCA>ACA		myopalladin							112.0	95.0	101.0					10																	69934214		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69934214C>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2365C>A	10.37:g.69934214C>A	ENSP00000351790:p.Pro789Thr					MYPN_uc001jnn.3_Missense_Mutation_p.P514T|MYPN_uc001jno.3_Missense_Mutation_p.P789T|MYPN_uc009xpt.2_Missense_Mutation_p.P789T|MYPN_uc010qit.1_Missense_Mutation_p.P495T|MYPN_uc010qiu.1_RNA	p.P789T	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			12	2550	+			789			Pro-rich.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.2365C>A	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170475	0.38315	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.63096	-0.02;0.06;0.03	5.47	5.47	0.80525	.	0.061993	0.64402	D	0.000002	T	0.62024	0.2394	L	0.46157	1.445	0.39251	D	0.96403	P;P;P	0.42692	0.787;0.634;0.501	P;P;B	0.44359	0.447;0.447;0.261	T	0.61758	-0.6997	9	.	.	.	.	17.9046	0.88914	0.0:1.0:0.0:0.0	.	789;514;789	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	T	514;514;789;789	ENSP00000346369:P514T;ENSP00000351790:P789T;ENSP00000441668:P789T	.	P	+	1	0	MYPN	69604220	1.000000	0.71417	0.032000	0.17829	0.528000	0.34623	3.635000	0.54309	2.741000	0.93983	0.655000	0.94253	CCA		PASS	0.542	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		31	76	31	76	---	---	---	---
TET1	80312	broad.mit.edu	37	10	70332691	70332691	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:70332691C>A	ENST00000373644.4	+	2	805	c.596C>A	c.(595-597)tCc>tAc	p.S199Y		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	199					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.S199Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTTGAGGATTCCAAGATCAAT	0.468																																						uc001jok.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(595-597)TCC>TAC		CXXC finger 6							56.0	55.0	56.0					10																	70332691		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70332691C>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.596C>A	10.37:g.70332691C>A	ENSP00000362748:p.Ser199Tyr						p.S199Y	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			2	1101	+			199					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.596C>A	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123451	0.56613	.	.	ENSG00000138336	ENST00000373644	T	0.10860	2.83	5.34	5.34	0.76211	.	0.899608	0.09319	N	0.818462	T	0.20373	0.0490	L	0.27053	0.805	0.21020	N	0.9998	D	0.67145	0.996	P	0.57371	0.819	T	0.35919	-0.9769	10	0.72032	D	0.01	.	16.1777	0.81874	0.0:1.0:0.0:0.0	.	199	Q8NFU7	TET1_HUMAN	Y	199	ENSP00000362748:S199Y	ENSP00000362748:S199Y	S	+	2	0	TET1	70002697	0.087000	0.21565	0.961000	0.40146	0.895000	0.52256	2.966000	0.49208	2.483000	0.83821	0.563000	0.77884	TCC		PASS	0.468	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		28	121	28	121	---	---	---	---
CCAR1	55749	broad.mit.edu	37	10	70502187	70502187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:70502187C>T	ENST00000265872.6	+	6	498	c.379C>T	c.(379-381)Caa>Taa	p.Q127*	CCAR1_ENST00000543719.1_Nonsense_Mutation_p.Q112*|CCAR1_ENST00000535016.1_Nonsense_Mutation_p.Q112*	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	127					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.Q127*(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GCCAACAGCACAAATAACTGT	0.423																																						uc001joo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|large_intestine(1)	7						c.(379-381)CAA>TAA		cell-cycle and apoptosis regulatory protein 1							184.0	153.0	163.0					10																	70502187		2203	4300	6503	SO:0001587	stop_gained	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70502187C>T	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.379C>T	10.37:g.70502187C>T	ENSP00000265872:p.Gln127*					CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_5'UTR|CCAR1_uc009xpx.1_Nonsense_Mutation_p.Q101*|CCAR1_uc001jon.1_Nonsense_Mutation_p.Q73*|CCAR1_uc010qiz.1_Nonsense_Mutation_p.Q112*|CCAR1_uc010qja.1_Nonsense_Mutation_p.Q112*|CCAR1_uc010qjb.1_RNA	p.Q127*	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN			6	498	+			127					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Nonsense_Mutation	SNP	ENST00000265872.6	37	c.379C>T	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069643	0.93950	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000538031;ENST00000543719;ENST00000539539;ENST00000543225	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-9.0447	20.1086	0.97902	0.0:1.0:0.0:0.0	.	.	.	.	X	127;112;127;112;112;101	.	ENSP00000265872:Q127X	Q	+	1	0	CCAR1	70172193	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.749000	0.85096	2.756000	0.94617	0.563000	0.77884	CAA		PASS	0.423	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		59	127	59	127	---	---	---	---
CCAR1	55749	broad.mit.edu	37	10	70509417	70509417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:70509417C>T	ENST00000265872.6	+	10	1212	c.1093C>T	c.(1093-1095)Cag>Tag	p.Q365*	CCAR1_ENST00000543719.1_Nonsense_Mutation_p.Q350*|CCAR1_ENST00000535016.1_Nonsense_Mutation_p.Q350*	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	365					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.Q365*(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTACACAGTTCAGTTTTCAAA	0.413																																						uc001joo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|large_intestine(1)	7						c.(1093-1095)CAG>TAG		cell-cycle and apoptosis regulatory protein 1							215.0	214.0	215.0					10																	70509417		2203	4300	6503	SO:0001587	stop_gained	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70509417C>T	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1093C>T	10.37:g.70509417C>T	ENSP00000265872:p.Gln365*					CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Nonsense_Mutation_p.Q170*|CCAR1_uc009xpx.1_Nonsense_Mutation_p.Q339*|CCAR1_uc001jon.1_Nonsense_Mutation_p.Q311*|CCAR1_uc010qiz.1_Nonsense_Mutation_p.Q350*|CCAR1_uc010qja.1_Nonsense_Mutation_p.Q350*|CCAR1_uc010qjb.1_RNA	p.Q365*	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN			10	1212	+			365					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Nonsense_Mutation	SNP	ENST00000265872.6	37	c.1093C>T	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	C	37	6.560859	0.97663	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-9.261	19.7673	0.96349	0.0:1.0:0.0:0.0	.	.	.	.	X	365;350;350;350;339;170	.	ENSP00000265872:Q365X	Q	+	1	0	CCAR1	70179423	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	7.154000	0.77437	2.739000	0.93911	0.467000	0.42956	CAG		PASS	0.413	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		8	301	8	301	---	---	---	---
NEUROG3	50674	broad.mit.edu	37	10	71332178	71332178	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:71332178G>C	ENST00000242462.4	-	2	651	c.622C>G	c.(622-624)Ctg>Gtg	p.L208V		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	208					central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)	p.L208V(1)		endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						GAGAAAGCCAGACTGCCTGGG	0.662																																						uc001jpp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(622-624)CTG>GTG		neurogenin 3							6.0	6.0	6.0					10																	71332178		1717	3701	5418	SO:0001583	missense	50674				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	g.chr10:71332178G>C	AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"""Basic helix-loop-helix proteins"""	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.622C>G	10.37:g.71332178G>C	ENSP00000242462:p.Leu208Val						p.L208V	NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN			2	780	-			208					Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	ENST00000242462.4	37	c.622C>G	CCDS31212.1	.	.	.	.	.	.	.	.	.	.	G	9.026	0.986198	0.18889	.	.	ENSG00000122859	ENST00000242462	D	0.95622	-3.76	4.83	1.85	0.25348	.	1.207200	0.06495	N	0.735357	D	0.88948	0.6576	N	0.24115	0.695	0.09310	N	1	B	0.24823	0.112	B	0.16722	0.016	T	0.77773	-0.2462	10	0.37606	T	0.19	-2.8526	0.7723	0.01026	0.2896:0.1632:0.3792:0.168	.	208	Q9Y4Z2	NGN3_HUMAN	V	208	ENSP00000242462:L208V	ENSP00000242462:L208V	L	-	1	2	NEUROG3	71002184	0.009000	0.17119	0.000000	0.03702	0.007000	0.05969	1.327000	0.33746	0.194000	0.20326	-0.152000	0.13540	CTG		PASS	0.662	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1	NM_020999		2	10	2	10	---	---	---	---
SAR1A	56681	broad.mit.edu	37	10	71920822	71920822	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:71920822G>A	ENST00000373242.2	-	5	378	c.182C>T	c.(181-183)tCa>tTa	p.S61L	SAR1A_ENST00000477464.1_5'Flank|SAR1A_ENST00000458634.2_Missense_Mutation_p.S18L|SAR1A_ENST00000431664.2_Missense_Mutation_p.S61L|SAR1A_ENST00000373241.4_Missense_Mutation_p.S61L|SAR1A_ENST00000373238.1_Missense_Mutation_p.S61L|SAR1A_ENST00000373236.1_Missense_Mutation_p.S61L	NM_001142648.1	NP_001136120.1	Q9NR31	SAR1A_HUMAN	secretion associated, Ras related GTPase 1A	61					intracellular protein transport (GO:0006886)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)	p.S61L(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TAGCTCTTCTGATGCTGAAAA	0.363																																						uc010qjh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(181-183)TCA>TTA		SAR1a gene homolog 1							142.0	144.0	143.0					10																	71920822		2203	4300	6503	SO:0001583	missense	56681				ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity	g.chr10:71920822G>A		CCDS7298.1	10q22.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000079332	ENSG00000079332			10534	protein-coding gene	gene with protein product		607691	"""SAR1a gene homolog (S. cerevisiae) 1"", ""SAR1a gene homolog 1 (S. cerevisiae)"", ""SAR1 homolog A (S. cerevisiae)"""	SARA1		10871277	Standard	NM_020150		Approved	SAR1, Sara	uc010qji.2	Q9NR31	OTTHUMG00000018400	ENST00000373242.2:c.182C>T	10.37:g.71920822G>A	ENSP00000362339:p.Ser61Leu					SAR1A_uc010qji.1_Missense_Mutation_p.S61L|SAR1A_uc010qjj.1_Missense_Mutation_p.S18L	p.S61L	NM_001142648	NP_001136120	Q9NR31	SAR1A_HUMAN			5	385	-			61					B4DQ19	Missense_Mutation	SNP	ENST00000373242.2	37	c.182C>T	CCDS7298.1	.	.	.	.	.	.	.	.	.	.	G	35	5.557088	0.96514	.	.	ENSG00000079332	ENST00000373241;ENST00000373239;ENST00000373238;ENST00000373242;ENST00000431664;ENST00000458634;ENST00000373236	T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.28	5.28	0.74379	Small GTP-binding protein domain (1);	0.136437	0.51477	D	0.000092	T	0.75391	0.3843	M	0.75777	2.31	0.80722	D	1	D	0.53885	0.963	P	0.55391	0.775	T	0.78326	-0.2247	10	0.66056	D	0.02	.	17.8613	0.88781	0.0:0.0:1.0:0.0	.	61	Q9NR31	SAR1A_HUMAN	L	61;61;61;61;61;18;61	ENSP00000362338:S61L;ENSP00000362335:S61L;ENSP00000362339:S61L;ENSP00000399698:S61L;ENSP00000437979:S18L;ENSP00000362333:S61L	ENSP00000362333:S61L	S	-	2	0	SAR1A	71590828	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.685000	0.98661	2.629000	0.89072	0.655000	0.94253	TCA		PASS	0.363	SAR1A-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048500.2			5	293	5	293	---	---	---	---
NODAL	4838	broad.mit.edu	37	10	72195636	72195636	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:72195636G>C	ENST00000287139.3	-	2	296	c.297C>G	c.(295-297)agC>agG	p.S99R	AC022532.1_ENST00000420338.2_3'UTR	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	99					axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)	p.S99R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						GGTCCACAGGGCTGGACAGCT	0.572																																						uc001jrc.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|kidney(1)	2						c.(295-297)AGC>AGG		nodal precursor							51.0	48.0	49.0					10																	72195636		2203	4300	6503	SO:0001583	missense	4838				growth	extracellular space	cytokine activity|growth factor activity	g.chr10:72195636G>C	BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"""nodal, mouse, homolog"", ""nodal homolog (mouse)"""			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.297C>G	10.37:g.72195636G>C	ENSP00000287139:p.Ser99Arg						p.S99R	NM_018055	NP_060525	Q96S42	NODAL_HUMAN			2	339	-			99					Q2M3A5|Q8N4V3	Missense_Mutation	SNP	ENST00000287139.3	37	c.297C>G	CCDS7304.1	.	.	.	.	.	.	.	.	.	.	G	2.365	-0.345758	0.05208	.	.	ENSG00000156574	ENST00000287139;ENST00000414871	T;T	0.64618	-0.11;-0.11	5.46	3.44	0.39384	Transforming growth factor-beta, N-terminal (1);	1.033460	0.07566	N	0.917826	T	0.54159	0.1841	L	0.56769	1.78	0.09310	N	1	B	0.17268	0.021	B	0.16289	0.015	T	0.42732	-0.9434	10	0.15066	T	0.55	.	5.7428	0.18104	0.1787:0.2648:0.5565:0.0	.	99	Q96S42	NODAL_HUMAN	R	99;44	ENSP00000287139:S99R;ENSP00000394468:S44R	ENSP00000287139:S99R	S	-	3	2	NODAL	71865642	0.000000	0.05858	0.401000	0.26359	0.022000	0.10575	0.596000	0.24044	1.447000	0.47661	-0.345000	0.07892	AGC		PASS	0.572	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048511.1	NM_018055		21	79	21	79	---	---	---	---
SFTPA1	653509	broad.mit.edu	37	10	81373495	81373495	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:81373495C>G	ENST00000398636.3	+	6	511	c.373C>G	c.(373-375)Ctc>Gtc	p.L125V	SFTPA1_ENST00000419470.2_Missense_Mutation_p.L140V|SFTPA1_ENST00000372308.3_Missense_Mutation_p.L125V|SFTPA1_ENST00000372313.5_Missense_Mutation_p.L66V|SFTPA1_ENST00000428376.2_Missense_Mutation_p.L125V	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	125					lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)	p.L140V(1)		endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GCTCTCAGCCCTCAGTCTGCA	0.562																																						uc001kap.2																			1	Substitution - Missense(1)		lung(1)		0						c.(373-375)CTC>GTC		surfactant protein A1 isoform 1							111.0	112.0	112.0					10																	81373495		2203	4295	6498	SO:0001583	missense	653509				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding	g.chr10:81373495C>G	BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"""Collectins"""	10798	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A1A"""	178630	"""surfactant, pulmonary-associated protein A1"""	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.373C>G	10.37:g.81373495C>G	ENSP00000381633:p.Leu125Val					SFTPA1_uc001kaq.2_Missense_Mutation_p.L125V|SFTPA1_uc009xry.2_Missense_Mutation_p.L140V|SFTPA1_uc001kar.2_Missense_Mutation_p.L125V|SFTPA1_uc010qlt.1_Missense_Mutation_p.L66V|SFTPA1_uc009xrz.2_Missense_Mutation_p.L55V|SFTPA1_uc009xsa.2_Missense_Mutation_p.L125V|SFTPA1_uc009xsf.2_5'Flank	p.L125V	NM_005411	NP_005402	Q8IWL2	SFTA1_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		6	494	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		125					A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Missense_Mutation	SNP	ENST00000398636.3	37	c.373C>G	CCDS44445.1	.	.	.	.	.	.	.	.	.	.	.	3.955	-0.011529	0.07727	.	.	ENSG00000122852	ENST00000372308;ENST00000398636;ENST00000428376;ENST00000372313;ENST00000419470;ENST00000394569;ENST00000429958;ENST00000439264	D;D;D;T;D;D;D	0.88741	-2.24;-2.2;-2.2;2.76;-2.16;-2.42;-2.42	2.6	2.6	0.31112	.	0.090234	0.47093	D	0.000247	D	0.88265	0.6390	L	0.55213	1.73	0.41637	D	0.989052	D;P;P	0.63046	0.992;0.927;0.929	P;B;B	0.50659	0.647;0.438;0.199	D	0.88263	0.2924	10	0.51188	T	0.08	-9.4815	11.3306	0.49473	0.0:1.0:0.0:0.0	.	125;140;125	Q8IWL1;G5E9J3;Q8IWL2	SFPA2_HUMAN;.;SFTA1_HUMAN	V	125;125;125;66;140;125;125;125	ENSP00000361382:L125V;ENSP00000381633:L125V;ENSP00000411102:L125V;ENSP00000361387:L66V;ENSP00000397082:L140V;ENSP00000395527:L125V;ENSP00000401649:L125V	ENSP00000361382:L125V	L	+	1	0	SFTPA1	81043501	0.968000	0.33430	0.903000	0.35520	0.039000	0.13416	3.838000	0.55828	1.756000	0.51951	0.297000	0.19635	CTC		PASS	0.562	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411		50	244	50	244	---	---	---	---
LDB3	11155	broad.mit.edu	37	10	88441531	88441531	+	Silent	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:88441531G>T	ENST00000361373.4	+	4	681	c.660G>T	c.(658-660)ggG>ggT	p.G220G	LDB3_ENST00000372066.3_Intron|LDB3_ENST00000310944.6_Silent_p.G220G|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000542786.1_Silent_p.G220G|LDB3_ENST00000372056.4_Silent_p.G220G|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000429277.2_Silent_p.G220G	NM_007078.2	NP_009009.1			LIM domain binding 3									p.G220G(6)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GCCTCCGAGGGAAGGCCTCGG	0.627																																						uc001kdv.2																			6	Substitution - coding silent(6)		lung(6)	ovary(1)	1						c.(658-660)GGG>GGT		LIM domain binding 3 isoform 1							65.0	74.0	71.0					10																	88441531		2203	4300	6503	SO:0001819	synonymous_variant	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88441531G>T	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.660G>T	10.37:g.88441531G>T						LDB3_uc010qml.1_Silent_p.G220G|LDB3_uc010qmm.1_Silent_p.G220G|LDB3_uc001kdu.2_Intron|LDB3_uc009xsz.2_Intron|LDB3_uc001kdr.2_Intron|LDB3_uc009xsy.2_Silent_p.G220G|LDB3_uc001kds.2_Silent_p.G220G|LDB3_uc001kdt.2_RNA	p.G220G	NM_007078	NP_009009	O75112	LDB3_HUMAN			4	683	+			220						Silent	SNP	ENST00000361373.4	37	c.660G>T	CCDS7377.1																																																																																				PASS	0.627	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			6	187	6	187	---	---	---	---
LDB3	11155	broad.mit.edu	37	10	88485898	88485898	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:88485898C>A	ENST00000361373.4	+	12	2004	c.1983C>A	c.(1981-1983)taC>taA	p.Y661*	LDB3_ENST00000263066.6_Nonsense_Mutation_p.Y551*|LDB3_ENST00000352360.5_Nonsense_Mutation_p.Y404*|LDB3_ENST00000458213.2_Nonsense_Mutation_p.Y551*|LDB3_ENST00000429277.2_Nonsense_Mutation_p.Y666*	NM_007078.2	NP_009009.1			LIM domain binding 3									p.Y666*(1)|p.Y661*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TTTCAGACTACATCAATCTGT	0.577																																						uc001kdv.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1981-1983)TAC>TAA		LIM domain binding 3 isoform 1							111.0	94.0	99.0					10																	88485898		2203	4300	6503	SO:0001587	stop_gained	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88485898C>A	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1983C>A	10.37:g.88485898C>A	ENSP00000355296:p.Tyr661*					LDB3_uc010qmm.1_Nonsense_Mutation_p.Y666*|LDB3_uc001kdu.2_Nonsense_Mutation_p.Y551*|LDB3_uc009xsz.2_Nonsense_Mutation_p.Y290*|LDB3_uc009xta.1_Nonsense_Mutation_p.Y40*	p.Y661*	NM_007078	NP_009009	O75112	LDB3_HUMAN			12	2006	+			661			LIM zinc-binding 2.			Nonsense_Mutation	SNP	ENST00000361373.4	37	c.1983C>A	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	C	36	5.842354	0.97016	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	.	.	.	5.54	0.479	0.16796	.	0.000000	0.29884	N	0.010941	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3821	0.44119	0.0:0.4953:0.0:0.5047	.	.	.	.	X	582;666;551;404;551;661	.	ENSP00000263066:Y551X	Y	+	3	2	LDB3	88475878	0.000000	0.05858	0.430000	0.26722	0.992000	0.81027	-0.108000	0.10857	-0.158000	0.11040	0.563000	0.77884	TAC		PASS	0.577	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			10	34	10	34	---	---	---	---
FRA10AC1	118924	broad.mit.edu	37	10	95447185	95447185	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:95447185C>G	ENST00000359204.4	-	8	684	c.487G>C	c.(487-489)Gaa>Caa	p.E163Q	FRA10AC1_ENST00000371430.2_Missense_Mutation_p.E163Q|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.E163Q|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.E163Q	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	163	Lys-rich.					nucleus (GO:0005634)		p.E163Q(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						ACTTCTTTTTCTACTCGCCAC	0.254																																						uc001kiz.1																			2	Substitution - Missense(2)		lung(2)		0						c.(487-489)GAA>CAA		FRA10AC1 protein							17.0	16.0	16.0					10																	95447185		2144	4213	6357	SO:0001583	missense	118924					nucleus	protein binding	g.chr10:95447185C>G	AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.487G>C	10.37:g.95447185C>G	ENSP00000360488:p.Glu163Gln					C10orf4_uc001kiv.1_RNA|C10orf4_uc001kja.1_Missense_Mutation_p.E163Q	p.E163Q	NM_145246	NP_660289	Q70Z53	F10C1_HUMAN			8	685	-		Colorectal(252;0.122)	163			Lys-rich.		C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	ENST00000359204.4	37	c.487G>C	CCDS7430.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.368967	0.61624	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.33865	1.39;1.43;1.39;1.41	4.83	4.83	0.62350	.	0.090334	0.85682	D	0.000000	T	0.54695	0.1874	M	0.70108	2.13	0.80722	D	1	P	0.50156	0.932	P	0.54965	0.765	T	0.56366	-0.7991	10	0.51188	T	0.08	-14.1901	18.477	0.90797	0.0:1.0:0.0:0.0	.	163	Q70Z53	F10C1_HUMAN	Q	163	ENSP00000360488:E163Q;ENSP00000438405:E163Q;ENSP00000360484:E163Q;ENSP00000377660:E163Q	ENSP00000360488:E163Q	E	-	1	0	FRA10AC1	95437175	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.959000	0.76031	2.666000	0.90696	0.650000	0.86243	GAA		PASS	0.254	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049439.1	NM_145246		4	30	4	30	---	---	---	---
TLL2	7093	broad.mit.edu	37	10	98180750	98180750	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:98180750C>G	ENST00000357947.3	-	7	1111	c.886G>C	c.(886-888)Gac>Cac	p.D296H	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	296	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D296H(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ATGATGCTGTCAAAGTCGTAT	0.483																																						uc001kml.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(886-888)GAC>CAC		tolloid-like 2 precursor							292.0	257.0	269.0					10																	98180750		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98180750C>G	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.886G>C	10.37:g.98180750C>G	ENSP00000350630:p.Asp296His					TLL2_uc009xvf.1_Missense_Mutation_p.D244H	p.D296H	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	7	1112	-		Colorectal(252;0.0846)	296			Metalloprotease (By similarity).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.886G>C	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881409	0.91740	.	.	ENSG00000095587	ENST00000357947	T	0.64618	-0.11	5.79	5.79	0.91817	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.48286	D	0.000191	T	0.79311	0.4424	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77800	-0.2452	10	0.45353	T	0.12	.	19.0281	0.92941	0.0:1.0:0.0:0.0	.	296	Q9Y6L7	TLL2_HUMAN	H	296	ENSP00000350630:D296H	ENSP00000350630:D296H	D	-	1	0	TLL2	98170740	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.736000	0.84948	2.733000	0.93635	0.655000	0.94253	GAC		PASS	0.483	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			11	531	11	531	---	---	---	---
SLIT1	6585	broad.mit.edu	37	10	98825822	98825822	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:98825822G>C	ENST00000266058.4	-	5	680	c.435C>G	c.(433-435)atC>atG	p.I145M	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.I145M|SLIT1_ENST00000371070.4_Missense_Mutation_p.I145M	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	145					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.I145M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGATGGCCTGGATGGCGTTCT	0.552																																						uc001kmw.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(433-435)ATC>ATG		slit homolog 1 precursor							48.0	43.0	44.0					10																	98825822		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98825822G>C	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.435C>G	10.37:g.98825822G>C	ENSP00000266058:p.Ile145Met					SLIT1_uc009xvh.1_Missense_Mutation_p.I145M	p.I145M	NM_003061	NP_003052	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	5	687	-		Colorectal(252;0.162)	145			LRR 4.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.435C>G	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155488	0.38021	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T;T;T;T	0.30714	1.55;1.55;1.52;4.0	4.65	-0.777	0.10981	.	0.111379	0.64402	D	0.000013	T	0.49575	0.1565	M	0.91406	3.205	0.53688	D	0.999973	P;B	0.48350	0.909;0.386	P;P	0.55455	0.776;0.531	T	0.52283	-0.8596	10	0.87932	D	0	.	6.5724	0.22545	0.2104:0.2273:0.5622:0.0	.	145;145	E7EWQ8;O75093	.;SLIT1_HUMAN	M	145;145;121;145;128;121;145	ENSP00000266058:I145M;ENSP00000360109:I145M;ENSP00000315005:I128M;ENSP00000360080:I145M	ENSP00000266058:I145M	I	-	3	3	SLIT1	98815812	1.000000	0.71417	0.971000	0.41717	0.269000	0.26545	1.991000	0.40727	-0.051000	0.13334	-0.657000	0.03884	ATC		PASS	0.552	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		11	12	11	12	---	---	---	---
MMS19	64210	broad.mit.edu	37	10	99229407	99229407	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:99229407C>G	ENST00000438925.2	-	11	1255	c.920G>C	c.(919-921)aGa>aCa	p.R307T	MMS19_ENST00000355839.6_Missense_Mutation_p.R264T|MMS19_ENST00000327238.10_Missense_Mutation_p.R307T|MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000370782.2_Missense_Mutation_p.R307T|MMS19_ENST00000483626.1_5'Flank	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	307					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)	p.R307T(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		ACTCACCTCTCTGCGGATAGA	0.478								Direct reversal of damage																														uc001kns.3																			1	Substitution - Missense(1)		lung(1)		0						c.(919-921)AGA>ACA	Direct_reversal_of_damage|NER	MMS19 nucleotide excision repair homolog							83.0	69.0	74.0					10																	99229407		2203	4300	6503	SO:0001583	missense	64210				chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr10:99229407C>G	AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.920G>C	10.37:g.99229407C>G	ENSP00000412698:p.Arg307Thr					MMS19_uc009xvs.2_5'Flank|MMS19_uc009xvt.2_Missense_Mutation_p.R149T|MMS19_uc001knr.2_Missense_Mutation_p.R149T|MMS19_uc010qox.1_Missense_Mutation_p.R285T|MMS19_uc001knt.2_Missense_Mutation_p.R307T|MMS19_uc001knu.1_RNA	p.R307T	NM_022362	NP_071757	Q96T76	MMS19_HUMAN		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)	11	1145	-		Colorectal(252;0.0846)	307					B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	ENST00000438925.2	37	c.920G>C	CCDS7464.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974541	0.92919	.	.	ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000355839;ENST00000437002	T;T;T;T;T	0.64803	2.32;2.32;-0.12;2.32;2.32	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.044760	0.85682	D	0.000000	T	0.68476	0.3005	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.972;0.997;0.94;0.972	T	0.60136	-0.7322	10	0.08381	T	0.77	.	18.2357	0.89948	0.0:1.0:0.0:0.0	.	328;307;307;264	B4DQX2;Q96T76-5;Q96T76;B4E2I3	.;.;MMS19_HUMAN;.	T	307;307;307;286;264;298	ENSP00000412698:R307T;ENSP00000359818:R307T;ENSP00000320059:R307T;ENSP00000348097:R264T;ENSP00000409425:R298T	ENSP00000320059:R307T	R	-	2	0	MMS19	99219397	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.212000	0.77941	2.618000	0.88619	0.655000	0.94253	AGA		PASS	0.478	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2			7	93	7	93	---	---	---	---
UBTD1	80019	broad.mit.edu	37	10	99330049	99330049	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:99330049G>A	ENST00000370664.3	+	3	789	c.453G>A	c.(451-453)ctG>ctA	p.L151L	ANKRD2_ENST00000455090.1_5'Flank|ANKRD2_ENST00000307518.5_5'Flank|ANKRD2_ENST00000370655.1_5'Flank|ANKRD2_ENST00000298808.5_5'Flank	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	151	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.							p.L151L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		AGTTCCCGCTGAAGGTGCGCC	0.697																																					Pancreas(100;169 2668 32720)	uc001knv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(451-453)CTG>CTA		ubiquitin domain containing 1							46.0	48.0	48.0					10																	99330049		2203	4299	6502	SO:0001819	synonymous_variant	80019							g.chr10:99330049G>A	BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886			25683	protein-coding gene	gene with protein product						12477932	Standard	NM_024954		Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.453G>A	10.37:g.99330049G>A						ANKRD2_uc001knw.2_5'Flank|ANKRD2_uc009xvu.2_5'Flank	p.L151L	NM_024954	NP_079230	Q9HAC8	UBTD1_HUMAN		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)	3	646	+		Colorectal(252;0.162)	151			Ubiquitin-like.		D3DR57|Q53HI3	Silent	SNP	ENST00000370664.3	37	c.453G>A	CCDS7465.1																																																																																				PASS	0.697	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049701.1	NM_024954		5	63	5	63	---	---	---	---
SFRP5	6425	broad.mit.edu	37	10	99531265	99531265	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:99531265C>A	ENST00000266066.3	-	1	444	c.326G>T	c.(325-327)tGc>tTc	p.C109F		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	109	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell differentiation (GO:0030154)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|establishment or maintenance of cell polarity (GO:0007163)|gonad development (GO:0008406)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of Wnt signaling pathway involved in digestive tract morphogenesis (GO:2000057)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|post-anal tail morphogenesis (GO:0036342)|signal transduction (GO:0007165)|vasculature development (GO:0001944)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.C109F(2)		large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		AAAGAGCGAGCACAGGAAGAC	0.697																																						uc001kor.3																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(325-327)TGC>TTC		secreted frizzled-related protein 5 precursor							39.0	47.0	45.0					10																	99531265		2203	4300	6503	SO:0001583	missense	6425				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:99531265C>A	AF017988	CCDS7472.1	10q24	2008-07-10			ENSG00000120057	ENSG00000120057		"""Secreted frizzled-related proteins"""	10779	protein-coding gene	gene with protein product	"""secreted apoptosis related protein 3"""	604158				9391078	Standard	NM_003015		Approved	SARP3	uc001kor.4	Q5T4F7	OTTHUMG00000018866	ENST00000266066.3:c.326G>T	10.37:g.99531265C>A	ENSP00000266066:p.Cys109Phe						p.C109F	NM_003015	NP_003006	Q5T4F7	SFRP5_HUMAN		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)	1	492	-		Colorectal(252;0.234)	109			FZ.		O14780|Q86TH7	Missense_Mutation	SNP	ENST00000266066.3	37	c.326G>T	CCDS7472.1	.	.	.	.	.	.	.	.	.	.	c	21.3	4.123226	0.77436	.	.	ENSG00000120057	ENST00000266066	D	0.99488	-6.0	3.98	3.98	0.46160	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.99746	0.9899	H	0.99425	4.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96988	0.9720	10	0.87932	D	0	.	11.9039	0.52699	0.0:0.9117:0.0:0.0883	.	109	Q5T4F7	SFRP5_HUMAN	F	109	ENSP00000266066:C109F	ENSP00000266066:C109F	C	-	2	0	SFRP5	99521255	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.308000	0.78929	2.061000	0.61500	0.543000	0.68304	TGC		PASS	0.697	SFRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049742.1	NM_003015		3	49	3	49	---	---	---	---
DNMBP	23268	broad.mit.edu	37	10	101656145	101656145	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:101656145T>C	ENST00000324109.4	-	10	3021	c.2930A>G	c.(2929-2931)tAc>tGc	p.Y977C	DNMBP_ENST00000342239.3_Missense_Mutation_p.Y1001C|DNMBP_ENST00000540316.1_Intron|DNMBP_ENST00000543621.1_Missense_Mutation_p.Y223C	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	977					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y977C(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ACCCTTACGGTACTTGAGGAC	0.433																																						uc001kqj.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(2929-2931)TAC>TGC		dynamin binding protein							172.0	145.0	154.0					10																	101656145		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101656145T>C	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.2930A>G	10.37:g.101656145T>C	ENSP00000315659:p.Tyr977Cys					DNMBP_uc010qpl.1_Intron|DNMBP_uc001kqg.2_Missense_Mutation_p.Y265C|DNMBP_uc001kqh.2_Missense_Mutation_p.Y609C	p.Y977C	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	10	3022	-		Colorectal(252;0.234)	977					Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.2930A>G	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.484771	0.84854	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621	T;T;T	0.17528	2.31;2.27;2.27	5.47	5.47	0.80525	Dbl homology (DH) domain (1);	0.000000	0.43579	D	0.000548	T	0.43322	0.1242	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.997	T	0.38178	-0.9673	10	0.59425	D	0.04	-18.9993	15.5489	0.76133	0.0:0.0:0.0:1.0	.	977;223;1001	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	C	1001;977;223;223	ENSP00000344914:Y1001C;ENSP00000315659:Y977C;ENSP00000443657:Y223C	ENSP00000315659:Y977C	Y	-	2	0	DNMBP	101646135	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.037000	0.88933	2.074000	0.62210	0.454000	0.30748	TAC		PASS	0.433	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		57	97	57	97	---	---	---	---
BTRC	8945	broad.mit.edu	37	10	103281516	103281516	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:103281516C>T	ENST00000370187.3	+	5	563	c.445C>T	c.(445-447)Caa>Taa	p.Q149*	BTRC_ENST00000393441.4_Nonsense_Mutation_p.Q108*|BTRC_ENST00000408038.2_Nonsense_Mutation_p.Q113*	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	149	Homodimerization domain D.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q149*(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AGAGTCAGATCAAGTGGAATT	0.398																																						uc001kta.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(445-447)CAA>TAA		beta-transducin repeat containing protein							142.0	129.0	134.0					10																	103281516		2203	4300	6503	SO:0001587	stop_gained	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103281516C>T	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.445C>T	10.37:g.103281516C>T	ENSP00000359206:p.Gln149*					BTRC_uc001ktb.2_Nonsense_Mutation_p.Q113*|BTRC_uc001ktc.2_Nonsense_Mutation_p.Q123*	p.Q149*	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	5	558	+		Colorectal(252;0.234)	149			Homodimerization domain D.		B5MD49|Q5W141|Q5W142|Q9Y213	Nonsense_Mutation	SNP	ENST00000370187.3	37	c.445C>T	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964076	0.74131	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038;ENST00000370183	.	.	.	5.6	5.6	0.85130	.	0.078179	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-2.2399	20.0343	0.97551	0.0:1.0:0.0:0.0	.	.	.	.	X	149;108;113;131	.	ENSP00000359202:Q131X	Q	+	1	0	BTRC	103271506	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.773000	0.85462	2.803000	0.96430	0.650000	0.86243	CAA		PASS	0.398	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		7	133	7	133	---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103906839	103906839	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:103906839G>C	ENST00000278070.2	+	9	4129	c.4090G>C	c.(4090-4092)Gat>Cat	p.D1364H	PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.D331H	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1364					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D1364H(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGAGCAGGCAGATCCCTCAGC	0.627																																						uc001kum.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(4090-4092)GAT>CAT		peroxisome proliferator-activated receptor							65.0	53.0	57.0					10																	103906839		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103906839G>C	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4090G>C	10.37:g.103906839G>C	ENSP00000278070:p.Asp1364His					PPRC1_uc001kun.2_Missense_Mutation_p.D1244H|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron	p.D1364H	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	4129	+		Colorectal(252;0.122)	1364					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.4090G>C	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515505	0.44763	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.32753	1.84;1.44	5.76	2.79	0.32731	.	0.858115	0.10725	N	0.641290	T	0.26991	0.0661	L	0.47716	1.5	0.20403	N	0.9999	B;B	0.11235	0.004;0.003	B;B	0.14023	0.01;0.005	T	0.24799	-1.0150	10	0.59425	D	0.04	.	7.2141	0.25949	0.0668:0.3487:0.4751:0.1094	.	1244;1364	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	H	1364;331	ENSP00000278070:D1364H;ENSP00000359029:D331H	ENSP00000278070:D1364H	D	+	1	0	PPRC1	103896829	0.088000	0.21588	0.951000	0.38953	0.930000	0.56654	1.345000	0.33953	0.739000	0.32628	0.462000	0.41574	GAT		PASS	0.627	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		3	51	3	51	---	---	---	---
PSD	5662	broad.mit.edu	37	10	104164663	104164663	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:104164663G>A	ENST00000020673.5	-	14	3073	c.2547C>T	c.(2545-2547)ttC>ttT	p.F849F	PSD_ENST00000406432.1_Silent_p.F849F	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	849	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)	p.F634F(1)|p.F849F(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ACGGGGCCTGGAAGAGGAAGA	0.627																																						uc001kvg.1																			2	Substitution - coding silent(2)		lung(2)	breast(2)|urinary_tract(1)	3						c.(2545-2547)TTC>TTT		pleckstrin and Sec7 domain containing							45.0	40.0	41.0					10																	104164663		2203	4299	6502	SO:0001819	synonymous_variant	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104164663G>A	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2547C>T	10.37:g.104164663G>A						PSD_uc001kve.1_Silent_p.F57F|PSD_uc001kvf.1_Silent_p.F218F|PSD_uc001kvh.1_Silent_p.F470F|PSD_uc009xxd.1_Silent_p.F849F	p.F849F	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	14	3074	-			849			PH.		B1AKX7|D3DR87|Q15673|Q8IVG0	Silent	SNP	ENST00000020673.5	37	c.2547C>T	CCDS31272.1																																																																																				PASS	0.627	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			12	13	12	13	---	---	---	---
PCGF6	84108	broad.mit.edu	37	10	105086378	105086378	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:105086378C>G	ENST00000369847.3	-	8	889	c.822G>C	c.(820-822)aaG>aaC	p.K274N	PCGF6_ENST00000337211.4_Missense_Mutation_p.K199N|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	274					negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K274N(1)|p.K199N(1)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		GAACAAACTTCTTTTCCAATG	0.333																																						uc001kwt.2																			2	Substitution - Missense(2)		lung(2)	kidney(1)	1						c.(820-822)AAG>AAC		polycomb group ring finger 6 isoform a							61.0	61.0	61.0					10																	105086378		2203	4300	6503	SO:0001583	missense	84108				negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:105086378C>G	AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	21156	protein-coding gene	gene with protein product		607816	"""ring finger protein 134"""	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.822G>C	10.37:g.105086378C>G	ENSP00000358862:p.Lys274Asn					PCGF6_uc001kwu.2_Missense_Mutation_p.K199N|PCGF6_uc009xxk.2_RNA|PCGF6_uc009xxl.2_RNA|PCGF6_uc009xxm.2_RNA	p.K274N	NM_001011663	NP_001011663	Q9BYE7	PCGF6_HUMAN		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)	8	890	-		Colorectal(252;0.0747)|Breast(234;0.128)	274					A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Missense_Mutation	SNP	ENST00000369847.3	37	c.822G>C	CCDS31275.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883634	0.72410	.	.	ENSG00000156374	ENST00000369847;ENST00000337211	T;T	0.36699	1.29;1.24	5.0	5.0	0.66597	.	0.091551	0.85682	N	0.000000	T	0.59404	0.2191	M	0.69463	2.115	0.34845	D	0.741121	D;D	0.76494	0.999;0.991	D;P	0.80764	0.994;0.831	T	0.71679	-0.4520	10	0.72032	D	0.01	.	17.0714	0.86574	0.0:1.0:0.0:0.0	.	199;274	Q9BYE7-3;Q9BYE7	.;PCGF6_HUMAN	N	274;199	ENSP00000358862:K274N;ENSP00000338845:K199N	ENSP00000338845:K199N	K	-	3	2	PCGF6	105076368	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.079000	0.57613	2.318000	0.78349	0.462000	0.41574	AAG		PASS	0.333	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050132.1	NM_032154		7	81	7	81	---	---	---	---
OBFC1	79991	broad.mit.edu	37	10	105657381	105657381	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:105657381C>A	ENST00000224950.3	-	7	845	c.678G>T	c.(676-678)caG>caT	p.Q226H	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.Q226H	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	226	Winged helix-turn-helix (wHTH) 1.				positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)	p.Q226H(1)		large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		CCAGCTCCTGCTGGTAAAAGC	0.537																																						uc001kxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(676-678)CAG>CAT		oligonucleotide/oligosaccharide-binding fold							121.0	104.0	110.0					10																	105657381		2203	4300	6503	SO:0001583	missense	79991				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	g.chr10:105657381C>A	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.678G>T	10.37:g.105657381C>A	ENSP00000224950:p.Gln226His					OBFC1_uc001kxm.2_Missense_Mutation_p.Q226H|OBFC1_uc001kxn.2_RNA	p.Q226H	NM_024928	NP_079204	Q9H668	STN1_HUMAN		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)	6	753	-		Colorectal(252;0.178)	226					D3DR99|Q5TCZ0	Missense_Mutation	SNP	ENST00000224950.3	37	c.678G>T	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910345	0.52439	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.51071	0.72;0.72	5.39	3.22	0.36961	Domain of unknown function DUF1879, CTS complex STN1 subunit (1);	0.236544	0.44902	N	0.000412	T	0.59432	0.2193	M	0.73598	2.24	0.37118	D	0.900689	D	0.76494	0.999	D	0.71414	0.973	T	0.63107	-0.6711	10	0.39692	T	0.17	-5.9148	3.5691	0.07910	0.2489:0.6049:0.0:0.1461	.	226	Q9H668	STN1_HUMAN	H	226	ENSP00000224950:Q226H;ENSP00000358779:Q226H	ENSP00000224950:Q226H	Q	-	3	2	OBFC1	105647371	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.256000	0.32921	1.209000	0.43321	0.650000	0.86243	CAG		PASS	0.537	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928		4	136	4	136	---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105796278	105796278	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:105796278C>G	ENST00000353479.5	-	48	3680	c.3390G>C	c.(3388-3390)ctG>ctC	p.L1130L	COL17A1_ENST00000369733.3_Silent_p.L1085L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1130	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L1130L(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGCGACTACTCAGCTCTGCAT	0.587																																						uc001kxr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(3388-3390)CTG>CTC		alpha 1 type XVII collagen							62.0	58.0	59.0					10																	105796278		2203	4300	6503	SO:0001819	synonymous_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105796278C>G	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.3390G>C	10.37:g.105796278C>G							p.L1130L	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	48	3559	-		Colorectal(252;0.103)|Breast(234;0.122)	1130			Extracellular (Potential).|Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.3390G>C	CCDS7554.1																																																																																				PASS	0.587	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		34	49	34	49	---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105824224	105824224	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:105824224G>A	ENST00000353479.5	-	10	1028	c.738C>T	c.(736-738)ctC>ctT	p.L246L	COL17A1_ENST00000393211.3_Silent_p.L246L|COL17A1_ENST00000369733.3_Silent_p.L246L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	246	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L246L(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CATTGGTGTTGAGGAGGGATG	0.607																																						uc001kxr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(736-738)CTC>CTT		alpha 1 type XVII collagen							173.0	137.0	149.0					10																	105824224		2203	4300	6503	SO:0001819	synonymous_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105824224G>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.738C>T	10.37:g.105824224G>A						COL17A1_uc010qqv.1_Silent_p.L230L|COL17A1_uc009xxp.1_Silent_p.L246L	p.L246L	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	10	907	-		Colorectal(252;0.103)|Breast(234;0.122)	246			Cytoplasmic (Potential).|Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.738C>T	CCDS7554.1																																																																																				PASS	0.607	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		4	54	4	54	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108589406	108589406	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:108589406C>G	ENST00000263054.6	-	3	659	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	SORCS1_ENST00000344440.6_Missense_Mutation_p.E218Q	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	218					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.E218K(2)|p.E218Q(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTCAGCTTCTCATAGGTTGTT	0.363																																						uc001kym.2																			4	Substitution - Missense(4)		lung(4)	breast(1)|central_nervous_system(1)	2						c.(652-654)GAG>CAG		SORCS receptor 1 isoform a							157.0	142.0	147.0					10																	108589406		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108589406C>G	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.652G>C	10.37:g.108589406C>G	ENSP00000263054:p.Glu218Gln					SORCS1_uc001kyl.2_Missense_Mutation_p.E218Q|SORCS1_uc009xxs.2_Missense_Mutation_p.E218Q|SORCS1_uc001kyn.1_Missense_Mutation_p.E218Q|SORCS1_uc001kyo.2_Missense_Mutation_p.E218Q	p.E218Q	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	3	660	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	218			Lumenal (Potential).|BNR 1.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.652G>C	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216716	0.58452	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.22134	1.97;1.97	5.45	5.45	0.79879	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.22513	0.0543	L	0.42245	1.32	0.44247	D	0.997097	B;P;P;B;P	0.36683	0.43;0.565;0.565;0.43;0.565	B;B;B;B;B	0.36335	0.111;0.222;0.222;0.111;0.222	T	0.01600	-1.1315	9	.	.	.	-26.6097	19.6556	0.95837	0.0:1.0:0.0:0.0	.	218;218;218;218;218	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	Q	218	ENSP00000263054:E218Q;ENSP00000345964:E218Q	.	E	-	1	0	SORCS1	108579396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.605000	0.61119	2.725000	0.93324	0.655000	0.94253	GAG		PASS	0.363	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		7	189	7	189	---	---	---	---
ADD3	120	broad.mit.edu	37	10	111892125	111892125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:111892125C>T	ENST00000356080.4	+	14	2162	c.1795C>T	c.(1795-1797)Cag>Tag	p.Q599*	ADD3_ENST00000277900.8_Intron|ADD3_ENST00000360162.3_Intron	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	599						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.Q599*(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GTCTCAAACTCAGTCACCGCA	0.393																																						uc001kyt.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)	5						c.(1795-1797)CAG>TAG		adducin 3 (gamma) isoform a							98.0	95.0	96.0					10																	111892125		2203	4300	6503	SO:0001587	stop_gained	120					cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	g.chr10:111892125C>T	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.1795C>T	10.37:g.111892125C>T	ENSP00000348381:p.Gln599*					ADD3_uc001kys.3_Intron|ADD3_uc001kyu.2_Nonsense_Mutation_p.Q599*|ADD3_uc001kyv.2_Nonsense_Mutation_p.Q599*|ADD3_uc001kyw.2_Intron|ADD3_uc001kyx.2_Nonsense_Mutation_p.Q172*	p.Q599*	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	15	2109	+		Breast(234;0.052)|Lung NSC(174;0.223)	599					D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Nonsense_Mutation	SNP	ENST00000356080.4	37	c.1795C>T	CCDS7561.1	.	.	.	.	.	.	.	.	.	.	C	41	8.738853	0.98935	.	.	ENSG00000148700	ENST00000356080	.	.	.	5.51	5.51	0.81932	.	0.222690	0.47093	D	0.000251	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3606	19.4226	0.94727	0.0:1.0:0.0:0.0	.	.	.	.	X	599	.	ENSP00000348381:Q599X	Q	+	1	0	ADD3	111882115	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.125000	0.71627	2.593000	0.87608	0.655000	0.94253	CAG		PASS	0.393	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		4	97	4	97	---	---	---	---
HABP2	3026	broad.mit.edu	37	10	115343952	115343952	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:115343952C>T	ENST00000351270.3	+	11	1379	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	HABP2_ENST00000542051.1_Missense_Mutation_p.S402F	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	428	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)	p.S428F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	GCTCTAGAATCCAAATACGTG	0.507																																						uc001lai.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1282-1284)TCC>TTC		hyaluronan binding protein 2 preproprotein							261.0	211.0	228.0					10																	115343952		2203	4300	6503	SO:0001583	missense	3026				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	g.chr10:115343952C>T		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.1283C>T	10.37:g.115343952C>T	ENSP00000277903:p.Ser428Phe					HABP2_uc010qrz.1_RNA	p.S428F	NM_004132	NP_004123	Q14520	HABP2_HUMAN		Epithelial(162;0.00319)|all cancers(201;0.0112)	11	1386	+		Colorectal(252;0.0233)|Breast(234;0.0672)	428			Peptidase S1.		A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	c.1283C>T	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616907	0.87359	.	.	ENSG00000148702	ENST00000542051;ENST00000351270	D;D	0.94457	-3.43;-3.43	5.99	5.99	0.97316	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.158251	0.56097	D	0.000029	D	0.97810	0.9281	M	0.88377	2.95	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.97922	1.0315	10	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	428	Q14520	HABP2_HUMAN	F	402;428	ENSP00000443283:S402F;ENSP00000277903:S428F	ENSP00000277903:S428F	S	+	2	0	HABP2	115333942	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.272000	0.65559	2.840000	0.97914	0.655000	0.94253	TCC		PASS	0.507	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		4	89	4	89	---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	117075230	117075230	+	Silent	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:117075230C>A	ENST00000355044.3	+	18	3147	c.3021C>A	c.(3019-3021)tcC>tcA	p.S1007S	ATRNL1_ENST00000423111.2_Silent_p.S104S|ATRNL1_ENST00000303745.7_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1007	PSI 5.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.S1007S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATGAGTGGTCCTTTATCCAGT	0.373																																						uc001lcg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(3019-3021)TCC>TCA		attractin-like 1 precursor							82.0	80.0	81.0					10																	117075230		2203	4300	6503	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:117075230C>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3021C>A	10.37:g.117075230C>A						ATRNL1_uc010qsm.1_Silent_p.S182S|ATRNL1_uc010qsn.1_RNA	p.S1007S	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	18	3407	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1007			PSI 5.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.3021C>A	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	8.163	0.789887	0.16258	.	.	ENSG00000107518	ENST00000526373	.	.	.	5.68	-0.98	0.10272	.	.	.	.	.	T	0.49915	0.1585	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39354	-0.9618	4	.	.	.	-11.5462	5.0183	0.14349	0.1452:0.3125:0.0:0.5423	.	.	.	.	I	137	.	.	L	+	1	0	ATRNL1	117065220	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	0.657000	0.24963	-0.051000	0.13334	0.455000	0.32223	CTT		PASS	0.373	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		55	108	55	108	---	---	---	---
PNLIP	5406	broad.mit.edu	37	10	118306940	118306940	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:118306940G>C	ENST00000369221.2	+	3	209	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	61					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.E61Q(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	ATATACTAATGAGAACCCAAA	0.478																																						uc001lcm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(181-183)GAG>CAG		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						65.0	64.0	64.0					10																	118306940		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118306940G>C	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.181G>C	10.37:g.118306940G>C	ENSP00000358223:p.Glu61Gln						p.E61Q	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	3	224	+			61					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.181G>C	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473127	0.43942	.	.	ENSG00000175535	ENST00000369221	D	0.91521	-2.86	5.36	5.36	0.76844	Lipase, N-terminal (1);	0.153946	0.45126	D	0.000384	D	0.85013	0.5600	L	0.31526	0.94	0.42354	D	0.992389	B	0.22541	0.071	B	0.23419	0.046	T	0.80386	-0.1404	10	0.33940	T	0.23	.	13.6916	0.62549	0.0:0.155:0.845:0.0	.	61	P16233	LIPP_HUMAN	Q	61	ENSP00000358223:E61Q	ENSP00000358223:E61Q	E	+	1	0	PNLIP	118296930	0.995000	0.38212	0.970000	0.41538	0.973000	0.67179	2.435000	0.44811	2.789000	0.95967	0.591000	0.81541	GAG		PASS	0.478	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		4	111	4	111	---	---	---	---
HSPA12A	259217	broad.mit.edu	37	10	118460505	118460505	+	Silent	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:118460505G>T	ENST00000369209.3	-	4	494	c.390C>A	c.(388-390)gcC>gcA	p.A130A		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	130						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.A751A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GCCACTGCTTGGCCTCATTGG	0.577																																						uc001lct.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(388-390)GCC>GCA		heat shock 70kDa protein 12A							88.0	96.0	93.0					10																	118460505		2074	4203	6277	SO:0001819	synonymous_variant	259217						ATP binding	g.chr10:118460505G>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.390C>A	10.37:g.118460505G>T						HSPA12A_uc001lcu.2_Silent_p.A47A	p.A130A	NM_025015	NP_079291	O43301	HS12A_HUMAN		all cancers(201;0.0158)	4	495	-			130						Silent	SNP	ENST00000369209.3	37	c.390C>A	CCDS41569.1																																																																																				PASS	0.577	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		13	182	13	182	---	---	---	---
SLC18A2	6571	broad.mit.edu	37	10	119003708	119003708	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:119003708C>T	ENST00000298472.5	+	3	491	c.348C>T	c.(346-348)gaC>gaT	p.D116D	SLC18A2_ENST00000497497.1_3'UTR|RP11-501J20.5_ENST00000425264.1_RNA	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	116					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)	p.D116D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TTCCTTCCGACTGTCCCAGTG	0.522																																						uc001ldd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(346-348)GAC>GAT		solute carrier family 18 (vesicular monoamine),	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						105.0	91.0	96.0					10																	119003708		2203	4300	6503	SO:0001819	synonymous_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119003708C>T	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.348C>T	10.37:g.119003708C>T						SLC18A2_uc009xyy.1_5'UTR	p.D116D	NM_003054	NP_003045	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	3	379	+		Colorectal(252;0.19)	116			Lumenal, vesicle (Potential).		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	c.348C>T	CCDS7599.1																																																																																				PASS	0.522	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		39	79	39	79	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124399867	124399868	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:124399867_124399868CC>TA	ENST00000338354.3	+	52	6973_6974	c.6867_6868CC>TA	c.(6865-6870)ctCCat>ctTAat	p.H2290N	DMBT1_ENST00000368955.3_Missense_Mutation_p.H2280N|DMBT1_ENST00000330163.4_Missense_Mutation_p.H1662N|DMBT1_ENST00000344338.3_Missense_Mutation_p.H2280N|DMBT1_ENST00000368956.2_Missense_Mutation_p.H1662N|DMBT1_ENST00000359586.6_Missense_Mutation_p.H1010N|DMBT1_ENST00000368909.3_Missense_Mutation_p.H2290N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2290	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.H2290N(4)|p.H2419N(2)|p.L2289L(2)|p.L2418L(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGAAATCCTCCATTCTGATGC	0.465																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			9	Substitution - Missense(6)|Substitution - coding silent(3)		lung(9)	central_nervous_system(7)	7						c.(6865-6867)CTC>CTT|c.(6868-6870)CAT>AAT		deleted in malignant brain tumors 1 isoform b																																				SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124399867C>T|g.chr10:124399868C>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	Exception_encountered	10.37:g.124399867_124399868delinsTA	ENSP00000342210:p.His2290Asn					DMBT1_uc001lgl.1_Silent_p.L2279L|DMBT1_uc001lgm.1_Silent_p.L1661L|DMBT1_uc009xzz.1_Silent_p.L2288L|DMBT1_uc010qtx.1_Silent_p.L1009L|DMBT1_uc009yab.1_Silent_p.L992L|DMBT1_uc009yac.1_Silent_p.L583L|DMBT1_uc001lgl.1_Missense_Mutation_p.H2280N|DMBT1_uc001lgm.1_Missense_Mutation_p.H1662N|DMBT1_uc009xzz.1_Missense_Mutation_p.H2289N|DMBT1_uc010qtx.1_Missense_Mutation_p.H1010N|DMBT1_uc009yab.1_Missense_Mutation_p.H993N|DMBT1_uc009yac.1_Missense_Mutation_p.H584N	p.L2289L|p.H2290N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			52	6973|6974	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2289|2290			ZP.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent|Missense_Mutation	SNP	ENST00000338354.3	37	c.6867C>T|c.6868C>A																																																																																					PASS	0.465	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		39	147	39	147	---	---	---	---
C10orf88	80007	broad.mit.edu	37	10	124692056	124692056	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:124692056C>T	ENST00000481909.1	-	6	1449	c.1225G>A	c.(1225-1227)Gat>Aat	p.D409N	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	409								p.D409N(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)		ATCTTATCATCAATGTGCTCC	0.383																																						uc001lgw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1225-1227)GAT>AAT		hypothetical protein LOC80007							130.0	125.0	126.0					10																	124692056		2203	4300	6503	SO:0001583	missense	80007							g.chr10:124692056C>T	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.1225G>A	10.37:g.124692056C>T	ENSP00000419126:p.Asp409Asn					C10orf88_uc001lgx.2_Missense_Mutation_p.D311N	p.D409N	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)	6	1450	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	409					Q0P6C6|Q8N597	Missense_Mutation	SNP	ENST00000481909.1	37	c.1225G>A	CCDS7632.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531307	0.85706	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.83	4.83	0.62350	.	0.076961	0.51477	U	0.000097	T	0.79493	0.4455	M	0.77616	2.38	0.42068	D	0.991196	D	0.89917	1.0	D	0.97110	1.0	T	0.82920	-0.0218	9	0.72032	D	0.01	.	16.0967	0.81129	0.0:1.0:0.0:0.0	.	409	Q9H8K7	CJ088_HUMAN	N	409	.	ENSP00000419126:D409N	D	-	1	0	C10orf88	124682046	0.998000	0.40836	0.185000	0.23176	0.996000	0.88848	4.824000	0.62701	2.217000	0.71921	0.655000	0.94253	GAT		PASS	0.383	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	NM_024942		4	187	4	187	---	---	---	---
EDRF1	26098	broad.mit.edu	37	10	127413989	127413989	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:127413989C>G	ENST00000356792.4	+	5	845	c.613C>G	c.(613-615)Ctt>Gtt	p.L205V	C10orf137_ENST00000337623.3_Missense_Mutation_p.L205V	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.L205V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAAGGCAATTCTTTCCAAGTT	0.343																																						uc001liq.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(3)|lung(2)	10						c.(613-615)CTT>GTT		erythroid differentiation-related factor 1							88.0	87.0	88.0					10																	127413989		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127413989C>G																												ENST00000356792.4:c.613C>G	10.37:g.127413989C>G	ENSP00000349244:p.Leu205Val					C10orf137_uc001lin.2_Missense_Mutation_p.L205V|C10orf137_uc001lio.1_Missense_Mutation_p.L205V|C10orf137_uc001lip.1_5'UTR	p.L205V	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN			5	906	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	205					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.613C>G	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717309	0.68844	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.59348	0.2187	N	0.12502	0.225	0.80722	D	1	P;D;P	0.67145	0.918;0.996;0.846	P;D;P	0.75484	0.774;0.986;0.712	T	0.56535	-0.7963	9	0.19147	T	0.46	.	18.6544	0.91445	0.0:1.0:0.0:0.0	.	205;205;205	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	V	205	.	ENSP00000336727:L205V	L	+	1	0	C10orf137	127403979	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.278000	0.78587	2.708000	0.92522	0.650000	0.86243	CTT		PASS	0.343	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			4	136	4	136	---	---	---	---
MMP21	118856	broad.mit.edu	37	10	127464271	127464271	+	Silent	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:127464271T>C	ENST00000368808.3	-	1	119	c.120A>G	c.(118-120)ccA>ccG	p.P40P		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	40					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P40P(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	CCTGGCGCAGTGGGGACGGCT	0.672																																						uc001liu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(118-120)CCA>CCG		matrix metalloproteinase 21 preproprotein							88.0	70.0	76.0					10																	127464271		2203	4300	6503	SO:0001819	synonymous_variant	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127464271T>C	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.120A>G	10.37:g.127464271T>C							p.P40P	NM_147191	NP_671724	Q8N119	MMP21_HUMAN			1	120	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	40					Q5VZP9|Q8NG02	Silent	SNP	ENST00000368808.3	37	c.120A>G	CCDS7647.1																																																																																				PASS	0.672	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			21	55	21	55	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129901286	129901286	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr10:129901286C>T	ENST00000368654.3	-	13	9193	c.8818G>A	c.(8818-8820)Gat>Aat	p.D2940N	MKI67_ENST00000368653.3_Missense_Mutation_p.D2580N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2940					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.D2940N(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTAAAGCTATCAGCAGCACCA	0.507																																						uc001lke.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(8818-8820)GAT>AAT		antigen identified by monoclonal antibody Ki-67							140.0	141.0	140.0					10																	129901286		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901286C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8818G>A	10.37:g.129901286C>T	ENSP00000357643:p.Asp2940Asn					MKI67_uc001lkf.2_Missense_Mutation_p.D2580N|MKI67_uc009yav.1_Missense_Mutation_p.D2515N|MKI67_uc009yaw.1_Missense_Mutation_p.D2090N	p.D2940N	NM_002417	NP_002408	P46013	KI67_HUMAN			13	9013	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2940					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.8818G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	1.311	-0.602197	0.03744	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01221	5.18;5.15	0.53	-0.588	0.11687	.	2.380980	0.01754	N	0.030128	T	0.00845	0.0028	N	0.14661	0.345	0.09310	N	1	B;B;P	0.47604	0.11;0.288;0.898	B;B;B	0.32211	0.075;0.142;0.094	T	0.48592	-0.9022	9	0.17369	T	0.5	.	.	.	.	.	2939;2580;2940	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	N	2940;2580;2939	ENSP00000357643:D2940N;ENSP00000357642:D2580N	ENSP00000357642:D2580N	D	-	1	0	MKI67	129791276	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.611000	0.05622	-0.334000	0.08463	0.205000	0.17691	GAT		PASS	0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		8	471	8	471	---	---	---	---
DEAF1	10522	broad.mit.edu	37	11	688371	688371	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:688371C>G	ENST00000382409.3	-	3	961	c.477G>C	c.(475-477)gaG>gaC	p.E159D	DEAF1_ENST00000338675.6_Missense_Mutation_p.E159D	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	159					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E159D(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GCCCGGTGGTCTCCACGATGC	0.577																																						uc001lqq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(475-477)GAG>GAC		deformed epidermal autoregulatory factor 1							62.0	52.0	55.0					11																	688371		2202	4299	6501	SO:0001583	missense	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:688371C>G	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.477G>C	11.37:g.688371C>G	ENSP00000371846:p.Glu159Asp					DEAF1_uc009ycf.1_5'Flank	p.E159D	NM_021008	NP_066288	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	3	1170	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	159					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.477G>C	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480784	0.44044	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.67171	-0.25	3.99	2.07	0.26955	.	0.067739	0.64402	D	0.000019	T	0.44456	0.1294	N	0.17082	0.46	0.40843	D	0.983682	B	0.32071	0.355	B	0.24974	0.057	T	0.33189	-0.9878	10	0.40728	T	0.16	-33.8989	9.5016	0.39022	0.0:0.8183:0.0:0.1817	.	159	O75398	DEAF1_HUMAN	D	159;159;145;82	ENSP00000371846:E159D	ENSP00000341902:E159D	E	-	3	2	DEAF1	678371	0.748000	0.28294	0.997000	0.53966	0.990000	0.78478	-0.156000	0.10100	0.447000	0.26695	0.561000	0.74099	GAG		PASS	0.577	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		7	44	7	44	---	---	---	---
CARS	833	broad.mit.edu	37	11	3038392	3038392	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:3038392T>C	ENST00000397111.5	-	15	1857	c.1612A>G	c.(1612-1614)Agg>Ggg	p.R538G	CARS_ENST00000397114.3_Missense_Mutation_p.R528G|CARS_ENST00000380525.4_Missense_Mutation_p.R621G|CARS_ENST00000278224.9_Missense_Mutation_p.R538G|CARS_ENST00000401769.3_Missense_Mutation_p.R551G			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	538					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.R621G(1)|p.R538G(1)	CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	TGGTTGGGCCTCTTCCTCACG	0.592			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	uc001lxh.2				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	2	Substitution - Missense(2)		lung(2)	soft_tissue(5)|ovary(2)	7						c.(1612-1614)AGG>GGG		cysteinyl-tRNA synthetase isoform b	L-Cysteine(DB00151)						101.0	78.0	86.0					11																	3038392		2202	4298	6500	SO:0001583	missense	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding	g.chr11:3038392T>C	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1612A>G	11.37:g.3038392T>C	ENSP00000380300:p.Arg538Gly					CARS_uc001lxe.2_Missense_Mutation_p.R528G|CARS_uc001lxf.2_Missense_Mutation_p.R621G|CARS_uc001lxg.2_Missense_Mutation_p.R538G|CARS_uc010qxo.1_Missense_Mutation_p.R621G|CARS_uc010qxp.1_Missense_Mutation_p.R551G	p.R538G	NM_001751	NP_001742	P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	15	1686	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	538					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	c.1612A>G	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	T	3.510	-0.100053	0.07010	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.44083	0.93;0.94;0.93;0.94;0.93	4.26	1.83	0.25207	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.531677	0.20014	N	0.101066	T	0.31544	0.0800	L	0.46741	1.465	0.39406	D	0.966675	B;B;B;B;B;B	0.20368	0.001;0.001;0.017;0.034;0.0;0.044	B;B;B;B;B;B	0.25614	0.002;0.003;0.028;0.062;0.002;0.045	T	0.08027	-1.0742	10	0.19590	T	0.45	-33.5447	7.3712	0.26802	0.1149:0.0:0.359:0.5261	.	551;621;538;538;621;528	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	G	621;538;538;528;551	ENSP00000369897:R621G;ENSP00000380300:R538G;ENSP00000278224:R538G;ENSP00000380303:R528G;ENSP00000384069:R551G	ENSP00000278224:R538G	R	-	1	2	CARS	2994968	0.983000	0.35010	0.991000	0.47740	0.183000	0.23260	0.648000	0.24828	0.709000	0.31976	0.379000	0.24179	AGG		PASS	0.592	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		11	85	11	85	---	---	---	---
OR51M1	390059	broad.mit.edu	37	11	5410897	5410897	+	Nonsense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:5410897T>A	ENST00000328611.3	+	1	291	c.269T>A	c.(268-270)tTg>tAg	p.L90*	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	90					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.L90*(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGTCCACGTTGCCCACCACT	0.478																																						uc010qzc.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(268-270)TTG>TAG		olfactory receptor, family 51, subfamily M,							157.0	147.0	150.0					11																	5410897		2034	4199	6233	SO:0001587	stop_gained	390059					integral to membrane	olfactory receptor activity	g.chr11:5410897T>A	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.269T>A	11.37:g.5410897T>A	ENSP00000333196:p.Leu90*					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.L90*	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	269	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	90					Q6IF80	Nonsense_Mutation	SNP	ENST00000328611.3	37	c.269T>A	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.169967	0.38315	.	.	ENSG00000184698	ENST00000328611	.	.	.	5.15	5.15	0.70609	.	0.309269	0.17647	U	0.166828	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9465	0.64089	0.0:0.0:0.0:1.0	.	.	.	.	X	90	.	ENSP00000333196:L90X	L	+	2	0	OR51M1	5367473	0.922000	0.31269	0.860000	0.33809	0.017000	0.09413	5.528000	0.67129	2.164000	0.68074	0.528000	0.53228	TTG		PASS	0.478	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		109	170	109	170	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5530093	5530093	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:5530093C>A	ENST00000311659.4	-	2	843	c.696G>T	c.(694-696)gaG>gaT	p.E232D	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	232								p.E232D(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACGTATCATCTCCTGCATCA	0.483																																					Ovarian(72;684 1260 12332 41642 52180)	uc001may.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(694-696)GAG>GAT		ubiquilin 3							93.0	88.0	89.0					11																	5530093		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5530093C>A	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.696G>T	11.37:g.5530093C>A	ENSP00000347997:p.Glu232Asp					HBG2_uc001mak.1_Intron	p.E232D	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	782	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	232					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.696G>T	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664504	0.67700	.	.	ENSG00000175520	ENST00000311659	T	0.51325	0.71	5.53	3.64	0.41730	Heat shock chaperonin-binding (1);	0.000000	0.45867	D	0.000329	T	0.73458	0.3589	M	0.93420	3.415	0.40142	D	0.976849	D	0.89917	1.0	D	0.79784	0.993	T	0.80269	-0.1453	10	0.87932	D	0	-37.4408	10.8022	0.46495	0.0:0.8348:0.0:0.1652	.	232	Q9H347	UBQL3_HUMAN	D	232	ENSP00000347997:E232D	ENSP00000347997:E232D	E	-	3	2	UBQLN3	5486669	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.239000	0.32719	1.469000	0.48083	0.591000	0.81541	GAG		PASS	0.483	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		52	88	52	88	---	---	---	---
TRIM5	85363	broad.mit.edu	37	11	5686453	5686453	+	Silent	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:5686453T>C	ENST00000380034.3	-	8	1324	c.1068A>G	c.(1066-1068)tcA>tcG	p.S356S	TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000305836.5_Silent_p.S356S|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000483835.1_5'UTR	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	356	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S356S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		AATGTTTCCCTGATGTGATAC	0.433																																						uc001mbm.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1066-1068)TCA>TCG		tripartite motif protein TRIM5 isoform alpha							110.0	106.0	108.0					11																	5686453		2201	4297	6498	SO:0001819	synonymous_variant	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5686453T>C	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.1068A>G	11.37:g.5686453T>C						TRIM78P_uc009yer.2_RNA|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Intron|TRIM5_uc001mbo.2_Intron|TRIM5_uc001mbp.2_3'UTR	p.S356S	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	8	1325	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	356			B30.2/SPRY.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	ENST00000380034.3	37	c.1068A>G	CCDS31393.1																																																																																				PASS	0.433	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		135	174	135	174	---	---	---	---
OR52E4	390081	broad.mit.edu	37	11	5905763	5905763	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:5905763C>T	ENST00000316987.2	+	1	263	c.241C>T	c.(241-243)Ccc>Tcc	p.P81S		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P81S(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCACTATCCCCAAAATGCT	0.443																																						uc010qzs.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(2)	2						c.(241-243)CCC>TCC		olfactory receptor, family 52, subfamily E,							141.0	123.0	129.0					11																	5905763		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5905763C>T	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.241C>T	11.37:g.5905763C>T	ENSP00000321426:p.Pro81Ser					TRIM5_uc001mbq.1_Intron	p.P81S	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	241	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	81			Extracellular (Potential).		Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.241C>T	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.038204	0.54896	.	.	ENSG00000180974	ENST00000316987	T	0.25414	1.8	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000140	T	0.47469	0.1447	H	0.95043	3.615	0.46336	D	0.998999	P	0.40553	0.721	B	0.40228	0.323	T	0.65537	-0.6144	10	0.87932	D	0	.	17.0995	0.86645	0.0:1.0:0.0:0.0	.	81	Q8NGH9	O52E4_HUMAN	S	81	ENSP00000321426:P81S	ENSP00000321426:P81S	P	+	1	0	OR52E4	5862339	1.000000	0.71417	0.997000	0.53966	0.804000	0.45430	7.066000	0.76734	2.607000	0.88179	0.643000	0.83706	CCC		PASS	0.443	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		107	169	107	169	---	---	---	---
TPP1	1200	broad.mit.edu	37	11	6638000	6638000	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:6638000C>A	ENST00000299427.6	-	7	838	c.778G>T	c.(778-780)Gtg>Ttg	p.V260L	TPP1_ENST00000534644.1_5'Flank|TPP1_ENST00000533371.1_Missense_Mutation_p.V17L|RP11-732A19.9_ENST00000545572.1_RNA	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0					embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)	p.V260L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	TGTCCAACCACACGGGCTACT	0.577																																						uc001mel.1																			1	Substitution - Missense(1)		lung(1)		0						c.(778-780)GTG>TTG		tripeptidyl-peptidase I preproprotein							100.0	104.0	102.0					11																	6638000		2201	4296	6497	SO:0001583	missense	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6638000C>A	AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"""TPP I"""	607998	"""ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)"", ""spinocerebellar ataxia, autosomal recessive 7"""	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.778G>T	11.37:g.6638000C>A	ENSP00000299427:p.Val260Leu					TPP1_uc001mek.1_Missense_Mutation_p.V17L	p.V260L	NM_000391	NP_000382	O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	7	839	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	260					Q71V64	Missense_Mutation	SNP	ENST00000299427.6	37	c.778G>T	CCDS7770.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542304	0.65198	.	.	ENSG00000166340	ENST00000299427;ENST00000533371	D;D	0.98901	-3.25;-5.22	4.48	4.48	0.54585	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.182511	0.46758	D	0.000261	D	0.96451	0.8842	L	0.38838	1.175	0.80722	D	1	B	0.31769	0.339	B	0.33339	0.162	D	0.96107	0.9074	10	0.24483	T	0.36	-19.3743	15.7243	0.77743	0.0:1.0:0.0:0.0	.	260	O14773	TPP1_HUMAN	L	260;17	ENSP00000299427:V260L;ENSP00000437066:V17L	ENSP00000299427:V260L	V	-	1	0	TPP1	6594576	1.000000	0.71417	0.885000	0.34714	0.842000	0.47809	5.655000	0.67981	2.049000	0.60858	0.455000	0.32223	GTG		PASS	0.577	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2			84	141	84	141	---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7092450	7092450	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:7092450G>A	ENST00000299481.4	+	12	3539	c.3193G>A	c.(3193-3195)Gct>Act	p.A1065T		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1065					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.A1065T(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCTGCTGGAAGCTGTGGGAGT	0.428																																						uc001mfb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(3193-3195)GCT>ACT		NLR family, pyrin domain containing 14							119.0	113.0	115.0					11																	7092450		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7092450G>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.3193G>A	11.37:g.7092450G>A	ENSP00000299481:p.Ala1065Thr						p.A1065T	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	12	3516	+			1065					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.3193G>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239064	0.58995	.	.	ENSG00000158077	ENST00000299481	T	0.53857	0.6	4.17	4.17	0.49024	.	0.623294	0.13563	N	0.378664	T	0.41143	0.1146	L	0.37897	1.145	0.09310	N	0.999995	P	0.38677	0.642	B	0.33392	0.163	T	0.37502	-0.9703	10	0.52906	T	0.07	.	12.2639	0.54665	0.0:0.0:1.0:0.0	.	1065	Q86W24	NAL14_HUMAN	T	1065	ENSP00000299481:A1065T	ENSP00000299481:A1065T	A	+	1	0	NLRP14	7049026	0.192000	0.23301	0.365000	0.25901	0.983000	0.72400	2.767000	0.47637	2.621000	0.88768	0.655000	0.94253	GCT		PASS	0.428	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		15	97	15	97	---	---	---	---
SCUBE2	57758	broad.mit.edu	37	11	9101052	9101052	+	Silent	SNP	G	G	A	rs548017893		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:9101052G>A	ENST00000309263.3	-	3	333	c.261C>T	c.(259-261)atC>atT	p.I87I	SCUBE2_ENST00000450649.2_Silent_p.I87I|SCUBE2_ENST00000457346.2_Silent_p.I87I|SCUBE2_ENST00000520467.1_Silent_p.I87I|SCUBE2_ENST00000534295.1_5'UTR			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	87	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.I87I(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CACATTCATCGATGTCTGAGG	0.413													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21431	0.0		0.0	False		,,,				2504	0.0					uc001mhh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(259-261)ATC>ATT		CEGP1 protein precursor							193.0	166.0	175.0					11																	9101052		2201	4296	6497	SO:0001819	synonymous_variant	57758					extracellular region	calcium ion binding	g.chr11:9101052G>A	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.261C>T	11.37:g.9101052G>A						SCUBE2_uc001mhi.1_Silent_p.I87I|SCUBE2_uc001mhj.1_Silent_p.I87I	p.I87I	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	3	341	-			87			EGF-like 2; calcium-binding (Potential).		Q2NKQ8|Q6ZWI1	Silent	SNP	ENST00000309263.3	37	c.261C>T																																																																																					PASS	0.413	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		7	195	7	195	---	---	---	---
GALNT18	374378	broad.mit.edu	37	11	11400750	11400750	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:11400750G>T	ENST00000227756.4	-	4	1068	c.657C>A	c.(655-657)ttC>ttA	p.F219L		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	219	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.F219L(1)									CGACTTTGATGAAGCCTGGCT	0.582																																						uc001mjo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(655-657)TTC>TTA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							163.0	132.0	142.0					11																	11400750		2201	4294	6495	SO:0001583	missense	374378					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr11:11400750G>T	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.657C>A	11.37:g.11400750G>T	ENSP00000227756:p.Phe219Leu						p.F219L	NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN		all cancers(16;3.67e-05)|Epithelial(150;0.000184)	4	1078	-			219			Lumenal (Potential).|Catalytic subdomain A.		O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.657C>A	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659145	0.29515	.	.	ENSG00000110328	ENST00000227756	T	0.58652	0.32	5.98	5.06	0.68205	Glycosyl transferase, family 2 (1);	0.000000	0.64402	D	0.000002	T	0.22627	0.0546	N	0.01134	-0.995	0.52099	D	0.999945	B	0.06786	0.001	B	0.08055	0.003	T	0.25502	-1.0130	10	0.05525	T	0.97	.	9.8792	0.41222	0.0742:0.1389:0.7869:0.0	.	219	Q6P9A2	GLTL4_HUMAN	L	219	ENSP00000227756:F219L	ENSP00000227756:F219L	F	-	3	2	GALNTL4	11357326	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.910000	0.56371	1.514000	0.48869	0.514000	0.50259	TTC		PASS	0.582	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		48	54	48	54	---	---	---	---
COPB1	1315	broad.mit.edu	37	11	14491055	14491055	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:14491055A>G	ENST00000249923.3	-	15	2092	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	COPB1_ENST00000439561.2_Missense_Mutation_p.S598P	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	598					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.S598P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GGAAGAGAGGATTTTCCCAAA	0.388																																						uc001mli.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1792-1794)TCC>CCC		coatomer protein complex, subunit beta 1							105.0	98.0	100.0					11																	14491055		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14491055A>G	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1792T>C	11.37:g.14491055A>G	ENSP00000249923:p.Ser598Pro					COPB1_uc001mlg.2_Missense_Mutation_p.S598P|COPB1_uc001mlh.2_Missense_Mutation_p.S598P	p.S598P	NM_016451	NP_057535	P53618	COPB_HUMAN			15	2099	-			598					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.1792T>C	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.041914	0.93685	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.13538	2.58;2.58	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	M	0.84511	2.7	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.46816	-0.9164	10	0.87932	D	0	-5.9104	16.3453	0.83126	1.0:0.0:0.0:0.0	.	598	P53618	COPB_HUMAN	P	598	ENSP00000249923:S598P;ENSP00000397873:S598P	ENSP00000249923:S598P	S	-	1	0	COPB1	14447631	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.994000	0.93529	2.261000	0.74972	0.533000	0.62120	TCC		PASS	0.388	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		39	53	39	53	---	---	---	---
PLEKHA7	144100	broad.mit.edu	37	11	16863215	16863215	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:16863215G>A	ENST00000355661.3	-	9	761	c.751C>T	c.(751-753)Cag>Tag	p.Q251*	RN7SKP90_ENST00000363013.1_RNA|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.Q251*|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.Q251*			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	251	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)	p.Q251*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGCTCGGCCTGAGAGCCCGCT	0.582																																						uc001mmo.2																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(751-753)CAG>TAG		pleckstrin homology domain containing, family A							88.0	74.0	79.0					11																	16863215		2200	4294	6494	SO:0001587	stop_gained	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16863215G>A	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.751C>T	11.37:g.16863215G>A	ENSP00000347883:p.Gln251*					PLEKHA7_uc010rcu.1_Nonsense_Mutation_p.Q251*	p.Q251*	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN			9	766	-			251			PH.		B4DK33|B4DWC3|Q86VZ7	Nonsense_Mutation	SNP	ENST00000355661.3	37	c.751C>T	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	G	36	5.936198	0.97122	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	.	.	.	5.16	4.25	0.50352	.	0.486350	0.23930	N	0.043152	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-11.7218	14.7445	0.69480	0.0731:0.0:0.9269:0.0	.	.	.	.	X	251	.	ENSP00000347883:Q251X	Q	-	1	0	PLEKHA7	16819791	1.000000	0.71417	0.838000	0.33150	0.930000	0.56654	7.214000	0.77958	2.857000	0.98124	0.650000	0.86243	CAG		PASS	0.582	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		4	74	4	74	---	---	---	---
LDHC	3948	broad.mit.edu	37	11	18456319	18456319	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:18456319A>G	ENST00000541669.1	+	5	562	c.451A>G	c.(451-453)Agt>Ggt	p.S151G	LDHC_ENST00000544105.1_Missense_Mutation_p.S151G|LDHC_ENST00000280704.4_Missense_Mutation_p.S151G|LDHC_ENST00000546146.1_Missense_Mutation_p.S93G|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000535809.1_Missense_Mutation_p.S151G|LDHC_ENST00000536880.1_Missense_Mutation_p.S137G			P07864	LDHC_HUMAN	lactate dehydrogenase C	151					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)	p.S151G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGGAAGATAAGTGGCTTACC	0.343																																						uc001mon.3																			1	Substitution - Missense(1)		lung(1)		0						c.(451-453)AGT>GGT		L-lactate dehydrogenase C	NADH(DB00157)						151.0	153.0	152.0					11																	18456319		2199	4293	6492	SO:0001583	missense	3948				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18456319A>G	AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.451A>G	11.37:g.18456319A>G	ENSP00000437783:p.Ser151Gly					LDHC_uc001mom.3_Missense_Mutation_p.S151G|LDHC_uc009yhp.2_Missense_Mutation_p.S151G|LDHC_uc001moo.3_Missense_Mutation_p.S35G|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_Missense_Mutation_p.S35G	p.S151G	NM_017448	NP_059144	P07864	LDHC_HUMAN			5	563	+			151					D3DQY4|Q6GSG8|Q7Z7J4	Missense_Mutation	SNP	ENST00000541669.1	37	c.451A>G	CCDS7840.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.003739	0.74932	.	.	ENSG00000166796	ENST00000541669;ENST00000280704;ENST00000546146;ENST00000536880;ENST00000544105;ENST00000535809	D;D;D;D;D;D	0.92495	-2.55;-2.55;-3.05;-2.55;-2.55;-2.55	4.67	4.67	0.58626	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96259	0.8780	M	0.86651	2.83	0.80722	D	1	D;P;D	0.89917	1.0;0.939;1.0	D;B;D	0.91635	0.995;0.361;0.999	D	0.96973	0.9710	10	0.87932	D	0	-19.7931	14.2778	0.66191	1.0:0.0:0.0:0.0	.	151;151;151	F5H155;G3XAP5;P07864	.;.;LDHC_HUMAN	G	151;151;93;137;151;151	ENSP00000437783:S151G;ENSP00000280704:S151G;ENSP00000443414:S93G;ENSP00000439555:S137G;ENSP00000439060:S151G;ENSP00000443997:S151G	ENSP00000280704:S151G	S	+	1	0	LDHC	18412895	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	9.079000	0.94032	1.980000	0.57719	0.533000	0.62120	AGT		PASS	0.343	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	NM_017448		95	134	95	134	---	---	---	---
SLC6A5	9152	broad.mit.edu	37	11	20636265	20636265	+	Silent	SNP	G	G	A	rs368128242		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:20636265G>A	ENST00000525748.1	+	6	1299	c.1026G>A	c.(1024-1026)aaG>aaA	p.K342K		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	342					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.K342K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TACAGATCAAGAACTCGACTT	0.403																																						uc001mqd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(1024-1026)AAG>AAA		solute carrier family 6 (neurotransmitter	Glycine(DB00145)	G		0,4406		0,0,2203	171.0	155.0	160.0		1026	5.7	1.0	11		160	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC6A5	NM_004211.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		342/798	20636265	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20636265G>A	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1026G>A	11.37:g.20636265G>A						SLC6A5_uc009yic.2_Silent_p.K107K	p.K342K	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			6	1299	+			342			Extracellular (Potential).		O95288|Q4VAM7|Q9BX77	Silent	SNP	ENST00000525748.1	37	c.1026G>A	CCDS7854.1																																																																																				PASS	0.403	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		91	136	91	136	---	---	---	---
BBOX1	8424	broad.mit.edu	37	11	27077152	27077152	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:27077152G>C	ENST00000529202.1	+	2	514	c.175G>C	c.(175-177)Gat>Cat	p.D59H	BBOX1_ENST00000263182.3_Missense_Mutation_p.D59H|BBOX1_ENST00000525090.1_Missense_Mutation_p.D59H|BBOX1_ENST00000528583.1_Missense_Mutation_p.D59H|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000527505.1_3'UTR			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	59					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)	p.D59H(1)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	GGAAGCTCTTGATGTGAACAT	0.408																																						uc001mre.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(175-177)GAT>CAT		gamma-butyrobetaine dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)						86.0	84.0	84.0					11																	27077152		2202	4299	6501	SO:0001583	missense	8424				carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr11:27077152G>C	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.175G>C	11.37:g.27077152G>C	ENSP00000435781:p.Asp59His					BBOX1_uc009yih.1_Missense_Mutation_p.D59H|BBOX1_uc001mrg.1_Missense_Mutation_p.D59H	p.D59H	NM_003986	NP_003977	O75936	BODG_HUMAN			3	543	+			59					B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	ENST00000529202.1	37	c.175G>C	CCDS7862.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453577	0.84209	.	.	ENSG00000129151	ENST00000529202;ENST00000533566;ENST00000263182;ENST00000528583;ENST00000525090	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	5.94	5.94	0.96194	Domain of unknown function, DUF971 (1);	0.000000	0.85682	D	0.000000	D	0.91553	0.7332	M	0.81179	2.53	0.80722	D	1	D	0.65815	0.995	P	0.58266	0.836	D	0.91939	0.5561	10	0.66056	D	0.02	.	17.8531	0.88754	0.0:0.0:1.0:0.0	.	59	O75936	BODG_HUMAN	H	59	ENSP00000435781:D59H;ENSP00000263182:D59H;ENSP00000434918:D59H;ENSP00000433772:D59H	ENSP00000263182:D59H	D	+	1	0	BBOX1	27033728	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	7.159000	0.77483	2.807000	0.96579	0.591000	0.81541	GAT		PASS	0.408	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1	NM_003986		7	83	7	83	---	---	---	---
C11orf74	119710	broad.mit.edu	37	11	36654838	36654838	+	Silent	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:36654838T>C	ENST00000334307.5	+	3	256	c.141T>C	c.(139-141)gaT>gaC	p.D47D	C11orf74_ENST00000347206.4_Intron|C11orf74_ENST00000534635.1_Intron|C11orf74_ENST00000446510.2_Silent_p.D47D	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	47								p.D47D(1)		breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				TTTCAGAGGATCATGTGTCCA	0.328																																						uc001mwy.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(139-141)GAT>GAC		hypothetical protein LOC119710							77.0	84.0	82.0					11																	36654838		2202	4296	6498	SO:0001819	synonymous_variant	119710							g.chr11:36654838T>C	AK095997, BC009561	CCDS7904.1, CCDS60762.1	11p12	2012-08-10			ENSG00000166352	ENSG00000166352			25142	protein-coding gene	gene with protein product						12477932	Standard	NM_001276722		Approved	FLJ38678, HEPIS	uc031pzr.1	Q86VG3	OTTHUMG00000166397	ENST00000334307.5:c.141T>C	11.37:g.36654838T>C						C11orf74_uc010rfd.1_RNA|C11orf74_uc001mww.1_Intron|C11orf74_uc001mwx.1_Intron|C11orf74_uc001mwz.1_Intron|C11orf74_uc010rfe.1_RNA	p.D47D	NM_138787	NP_620142	Q86VG3	CK074_HUMAN			3	214	+	all_lung(20;0.226)	all_hematologic(20;0.0118)	47					D3DR18|Q96DD6	Silent	SNP	ENST00000334307.5	37	c.141T>C	CCDS7904.1																																																																																				PASS	0.328	C11orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389567.1	NM_138787		55	81	55	81	---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40136116	40136116	+	Missense_Mutation	SNP	G	G	T	rs201412968		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:40136116G>T	ENST00000278198.2	-	2	3690	c.1727C>A	c.(1726-1728)aCg>aAg	p.T576K	LRRC4C_ENST00000528697.1_Missense_Mutation_p.T576K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.T576K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.T576K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	576					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.T576K(1)		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)				TGTGTCTCCCGTAATCTCATC	0.458																																						uc001mxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(1726-1728)ACG>AAG		netrin-G1 ligand precursor							203.0	197.0	199.0					11																	40136116		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136116G>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.1727C>A	11.37:g.40136116G>T	ENSP00000278198:p.Thr576Lys					LRRC4C_uc001mxc.1_Missense_Mutation_p.T572K|LRRC4C_uc001mxd.1_Missense_Mutation_p.T572K|LRRC4C_uc001mxb.1_Missense_Mutation_p.T572K	p.T576K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	3691	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	576					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1727C>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861211	0.32884	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	6.17	6.17	0.99709	.	0.261244	0.39407	N	0.001365	T	0.23965	0.0580	N	0.22421	0.69	0.58432	D	0.999997	P	0.36990	0.577	B	0.30943	0.122	T	0.02437	-1.1159	10	0.51188	T	0.08	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	576	Q9HCJ2	LRC4C_HUMAN	K	576	ENSP00000278198:T576K;ENSP00000436976:T576K;ENSP00000437132:T576K;ENSP00000434761:T576K	ENSP00000278198:T576K	T	-	2	0	LRRC4C	40092692	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.877000	0.87225	2.941000	0.99782	0.655000	0.94253	ACG		PASS	0.458	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		10	221	10	221	---	---	---	---
ZNF408	79797	broad.mit.edu	37	11	46726895	46726895	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:46726895G>A	ENST00000311764.2	+	5	1875	c.1645G>A	c.(1645-1647)Gag>Aag	p.E549K		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	549					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.E549K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACACACCGGGGAGGCCCACTT	0.682																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	uc001nde.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1645-1647)GAG>AAG		zinc finger protein 408							32.0	26.0	28.0					11																	46726895		2196	4293	6489	SO:0001583	missense	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46726895G>A	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1645G>A	11.37:g.46726895G>A	ENSP00000309606:p.Glu549Lys					ZNF408_uc010rgw.1_Missense_Mutation_p.E541K	p.E549K	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN			5	1875	+			549						Missense_Mutation	SNP	ENST00000311764.2	37	c.1645G>A	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400467	0.83120	.	.	ENSG00000175213	ENST00000311764	T	0.19806	2.12	5.59	4.68	0.58851	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000354	T	0.21550	0.0519	L	0.59912	1.85	0.44728	D	0.997729	P;P	0.40931	0.733;0.733	B;B	0.35859	0.212;0.212	T	0.03364	-1.1044	10	0.87932	D	0	-25.5008	12.228	0.54472	0.1414:0.0:0.8586:0.0	.	541;549	B4DXY4;Q9H9D4	.;ZN408_HUMAN	K	549	ENSP00000309606:E549K	ENSP00000309606:E549K	E	+	1	0	ZNF408	46683471	1.000000	0.71417	0.936000	0.37596	0.886000	0.51366	4.059000	0.57470	1.359000	0.45940	0.462000	0.41574	GAG		PASS	0.682	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		4	59	4	59	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46916147	46916147	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:46916147C>G	ENST00000378623.1	-	12	1775	c.1533G>C	c.(1531-1533)gaG>gaC	p.E511D		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	511					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.E511D(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TACCTGGGCTCTCCAGCCCAG	0.607																																						uc001ndn.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1531-1533)GAG>GAC		low density lipoprotein receptor-related protein							42.0	36.0	38.0					11																	46916147		2201	4298	6499	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46916147C>G	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1533G>C	11.37:g.46916147C>G	ENSP00000367888:p.Glu511Asp						p.E511D	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	12	1679	-			511			Extracellular (Potential).|LDL-receptor class B 1.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.1533G>C	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690726	0.68271	.	.	ENSG00000134569	ENST00000378623	D	0.95656	-3.77	5.73	3.86	0.44501	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.90793	0.7109	L	0.33710	1.025	0.58432	D	0.99999	B	0.29188	0.236	B	0.33960	0.173	D	0.85962	0.1471	10	0.14656	T	0.56	.	10.0004	0.41924	0.0:0.792:0.0:0.208	.	511	O75096	LRP4_HUMAN	D	511	ENSP00000367888:E511D	ENSP00000367888:E511D	E	-	3	2	LRP4	46872723	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.769000	0.47654	1.435000	0.47434	0.643000	0.83706	GAG		PASS	0.607	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		9	13	9	13	---	---	---	---
OR4C3	256144	broad.mit.edu	37	11	48346796	48346796	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:48346796A>T	ENST00000319856.4	+	1	325	c.304A>T	c.(304-306)Atg>Ttg	p.M102L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M102L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTCTTCTTCTATGGCTCCTAA	0.468																																						uc010rhv.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(304-306)ATG>TTG		olfactory receptor, family 4, subfamily C,							180.0	169.0	173.0					11																	48346796		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346796A>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.304A>T	11.37:g.48346796A>T	ENSP00000321419:p.Met102Leu						p.M102L	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			1	304	+			75			Helical; Name=2; (Potential).		B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.304A>T	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	A	8.332	0.826628	0.16749	.	.	ENSG00000176547	ENST00000319856	T	0.00840	5.63	5.88	-1.53	0.08611	GPCR, rhodopsin-like superfamily (1);	0.417559	0.21121	N	0.079818	T	0.00608	0.0020	N	0.12611	0.24	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46541	-0.9184	10	0.48119	T	0.1	.	6.0763	0.19917	0.429:0.234:0.0:0.337	.	75	Q8NH37	OR4C3_HUMAN	L	102	ENSP00000321419:M102L	ENSP00000321419:M102L	M	+	1	0	OR4C3	48303372	0.000000	0.05858	0.001000	0.08648	0.349000	0.29174	0.077000	0.14738	-0.151000	0.11176	0.449000	0.29647	ATG		PASS	0.468	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		21	275	21	275	---	---	---	---
OR4C46	119749	broad.mit.edu	37	11	51515761	51515761	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:51515761C>T	ENST00000328188.1	+	1	480	c.480C>T	c.(478-480)ttC>ttT	p.F160F		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F160F(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AGATCCTCTTCATCTTCCAAT	0.468																																						uc010ric.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(478-480)TTC>TTT		olfactory receptor, family 4, subfamily C,							109.0	104.0	106.0					11																	51515761		2201	4293	6494	SO:0001819	synonymous_variant	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515761C>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.480C>T	11.37:g.51515761C>T							p.F160F	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	480	+			160			Helical; Name=4; (Potential).			Silent	SNP	ENST00000328188.1	37	c.480C>T	CCDS31498.1																																																																																				PASS	0.468	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		12	286	12	286	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55135666	55135666	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:55135666A>G	ENST00000314706.3	+	1	307	c.307A>G	c.(307-309)Act>Gct	p.T103A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T103A(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CGTCTATTCTACTGCATTTGC	0.413																																						uc010rif.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(307-309)ACT>GCT		olfactory receptor, family 4, subfamily A,							136.0	134.0	134.0					11																	55135666		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135666A>G	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.307A>G	11.37:g.55135666A>G	ENSP00000325065:p.Thr103Ala						p.T103A	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	307	+			103			Helical; Name=2; (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.307A>G	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	a	15.59	2.880017	0.51801	.	.	ENSG00000181958	ENST00000314706	T	0.00384	7.6	3.48	0.751	0.18392	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000087	T	0.00608	0.0020	M	0.78916	2.43	0.09310	N	1	P	0.52842	0.956	P	0.58873	0.847	T	0.44097	-0.9350	10	0.87932	D	0	.	6.8953	0.24253	0.635:0.0:0.0:0.365	.	103	Q8NGL6	O4A15_HUMAN	A	103	ENSP00000325065:T103A	ENSP00000325065:T103A	T	+	1	0	OR4A15	54892242	0.000000	0.05858	0.003000	0.11579	0.018000	0.09664	-0.044000	0.12023	0.396000	0.25283	0.403000	0.27427	ACT		PASS	0.413	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		75	292	75	292	---	---	---	---
OR5D14	219436	broad.mit.edu	37	11	55563673	55563673	+	Silent	SNP	G	G	C	rs148455368	byFrequency	TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:55563673G>C	ENST00000335605.1	+	1	642	c.642G>C	c.(640-642)ctG>ctC	p.L214L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L214L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTACACTACTGATCATCCTCA	0.478																																						uc010rim.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(640-642)CTG>CTC		olfactory receptor, family 5, subfamily D,		G		1,4399		0,1,2199	208.0	194.0	199.0		642	-3.7	0.0	11	dbSNP_134	199	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR5D14	NM_001004735.1		0,2,6494	CC,CG,GG		0.0116,0.0227,0.0154		214/315	55563673	2,12990	2200	4296	6496	SO:0001819	synonymous_variant	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563673G>C	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.642G>C	11.37:g.55563673G>C							p.L214L	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	642	+		all_epithelial(135;0.196)	214			Helical; Name=5; (Potential).		Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	ENST00000335605.1	37	c.642G>C	CCDS31508.1																																																																																				PASS	0.478	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		20	385	20	385	---	---	---	---
TRIM51	84767	broad.mit.edu	37	11	55655595	55655595	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:55655595G>C	ENST00000449290.2	+	4	687	c.595G>C	c.(595-597)Gaa>Caa	p.E199Q	TRIM51_ENST00000244891.3_Missense_Mutation_p.E56Q	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	199						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E199Q(1)|p.E40Q(1)									ACATCACTTGGAAAGGCTGCG	0.428																																						uc010rip.1																			2	Substitution - Missense(2)		lung(2)		0						c.(595-597)GAA>CAA		SPRY domain containing 5							60.0	57.0	58.0					11																	55655595		2201	4296	6497	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55655595G>C	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.595G>C	11.37:g.55655595G>C	ENSP00000395086:p.Glu199Gln					SPRYD5_uc010riq.1_Missense_Mutation_p.E56Q	p.E199Q	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			4	687	+		all_epithelial(135;0.226)	199					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.595G>C		.	.	.	.	.	.	.	.	.	.	.	1.080	-0.667344	0.03428	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.04194	3.68;3.68	0.757	-1.51	0.08664	.	.	.	.	.	T	0.05227	0.0139	L	0.51853	1.615	0.09310	N	1	P	0.45768	0.866	P	0.45071	0.468	T	0.36383	-0.9750	9	0.18710	T	0.47	.	4.3071	0.10953	0.0:0.4318:0.5682:0.0	.	199	Q9BSJ1	SPRY5_HUMAN	Q	199;56	ENSP00000395086:E199Q;ENSP00000244891:E56Q	ENSP00000244891:E56Q	E	+	1	0	SPRYD5	55412171	0.000000	0.05858	0.001000	0.08648	0.371000	0.29859	-0.696000	0.05104	-0.271000	0.09272	0.152000	0.16155	GAA		PASS	0.428	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		4	116	4	116	---	---	---	---
OR5W2	390148	broad.mit.edu	37	11	55681880	55681880	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:55681880T>C	ENST00000344514.1	-	1	178	c.179A>G	c.(178-180)tAt>tGt	p.Y60C		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y60C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGGAAGAAATACATTGGTGT	0.383																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(178-180)TAT>TGT		olfactory receptor, family 5, subfamily W,							120.0	115.0	117.0					11																	55681880		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681880T>C	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.179A>G	11.37:g.55681880T>C	ENSP00000342448:p.Tyr60Cys						p.Y60C	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	179	-			60			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000344514.1	37	c.179A>G	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.761164	0.49468	.	.	ENSG00000187612	ENST00000344514	T	0.15718	2.4	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36740	N	0.002432	T	0.52322	0.1727	H	0.94462	3.54	0.41875	D	0.99029	D	0.89917	1.0	D	0.87578	0.998	T	0.66404	-0.5932	10	0.87932	D	0	.	12.6788	0.56910	0.0:0.0:0.0:1.0	.	60	Q8NH69	OR5W2_HUMAN	C	60	ENSP00000342448:Y60C	ENSP00000342448:Y60C	Y	-	2	0	OR5W2	55438456	1.000000	0.71417	1.000000	0.80357	0.290000	0.27261	3.898000	0.56281	1.874000	0.54306	0.448000	0.29417	TAT		PASS	0.383	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		15	118	15	118	---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55703584	55703584	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:55703584C>A	ENST00000301532.3	-	1	292	c.293G>T	c.(292-294)gGg>gTg	p.G98V		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	98					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G98V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CAGGGCACACCCATAATAGGA	0.423																																						uc010ris.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(292-294)GGG>GTG		olfactory receptor, family 5, subfamily I,							39.0	41.0	40.0					11																	55703584		2199	4294	6493	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703584C>A	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.293G>T	11.37:g.55703584C>A	ENSP00000301532:p.Gly98Val						p.G98V	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	293	-			98			Extracellular (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.293G>T	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726340	0.30593	.	.	ENSG00000167825	ENST00000301532	T	0.09817	2.94	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.153361	0.31010	N	0.008425	T	0.28532	0.0706	M	0.88031	2.925	0.23396	N	0.997764	P	0.52577	0.954	P	0.53450	0.726	T	0.28459	-1.0043	10	0.87932	D	0	.	9.466	0.38813	0.0:0.9022:0.0:0.0978	.	98	Q13606	OR5I1_HUMAN	V	98	ENSP00000301532:G98V	ENSP00000301532:G98V	G	-	2	0	OR5I1	55460160	0.000000	0.05858	0.322000	0.25334	0.212000	0.24457	-0.227000	0.09126	2.385000	0.81259	0.637000	0.83480	GGG		PASS	0.423	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		24	70	24	70	---	---	---	---
OR5J2	282775	broad.mit.edu	37	11	55944688	55944688	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:55944688C>A	ENST00000312298.1	+	1	595	c.595C>A	c.(595-597)Ctg>Atg	p.L199M		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L199M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TGAGTTGTTGCTGTTAACCTT	0.453																																						uc010rjb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(595-597)CTG>ATG		olfactory receptor, family 5, subfamily J,							174.0	135.0	148.0					11																	55944688		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944688C>A	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.595C>A	11.37:g.55944688C>A	ENSP00000310788:p.Leu199Met						p.L199M	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	595	+	Esophageal squamous(21;0.00693)		199			Helical; Name=5; (Potential).		Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.595C>A	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	C	7.786	0.710549	0.15239	.	.	ENSG00000174957	ENST00000312298	T	0.00220	8.52	4.55	1.27	0.21489	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000160	T	0.00271	0.0008	L	0.31578	0.945	0.09310	N	1	D	0.71674	0.998	D	0.74674	0.984	T	0.57551	-0.7792	10	0.33940	T	0.23	.	8.2529	0.31737	0.3562:0.5571:0.0:0.0867	.	199	Q8NH18	OR5J2_HUMAN	M	199	ENSP00000310788:L199M	ENSP00000310788:L199M	L	+	1	2	OR5J2	55701264	0.000000	0.05858	0.270000	0.24601	0.058000	0.15608	-0.926000	0.03988	0.447000	0.26695	0.591000	0.81541	CTG		PASS	0.453	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		38	185	38	185	---	---	---	---
OR5T3	390154	broad.mit.edu	37	11	56020334	56020334	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:56020334C>G	ENST00000303059.3	+	1	659	c.659C>G	c.(658-660)tCt>tGt	p.S220C		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S220C(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATTTCTTGTTCTGACACTCAC	0.398																																						uc010rjd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(658-660)TCT>TGT		olfactory receptor, family 5, subfamily T,							256.0	235.0	242.0					11																	56020334		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020334C>G	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.659C>G	11.37:g.56020334C>G	ENSP00000305403:p.Ser220Cys						p.S220C	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	659	+	Esophageal squamous(21;0.00448)		220			Extracellular (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.659C>G	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985670	0.53934	.	.	ENSG00000172489	ENST00000303059	T	0.00262	8.4	4.65	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000278	T	0.00936	0.0031	H	0.97131	3.945	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.15235	-1.0444	10	0.87932	D	0	.	14.7708	0.69675	0.1447:0.8553:0.0:0.0	.	220	Q8NGG3	OR5T3_HUMAN	C	220	ENSP00000305403:S220C	ENSP00000305403:S220C	S	+	2	0	OR5T3	55776910	0.000000	0.05858	0.849000	0.33467	0.950000	0.60333	0.485000	0.22324	2.569000	0.86673	0.643000	0.83706	TCT		PASS	0.398	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		144	458	144	458	---	---	---	---
OR5M3	219482	broad.mit.edu	37	11	56237923	56237923	+	Silent	SNP	G	G	A	rs554513751		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:56237923G>A	ENST00000312240.2	-	1	91	c.51C>T	c.(49-51)agC>agT	p.S17S		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S17S(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					ATTCTCGACGGCTCGTTAGCC	0.393																																						uc010rjk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(49-51)AGC>AGT		olfactory receptor, family 5, subfamily M,							75.0	66.0	69.0					11																	56237923		2201	4295	6496	SO:0001819	synonymous_variant	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237923G>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.51C>T	11.37:g.56237923G>A							p.S17S	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			1	51	-	Esophageal squamous(21;0.00448)		17			Extracellular (Potential).		B2RNM7|Q6IEW4|Q96RC0	Silent	SNP	ENST00000312240.2	37	c.51C>T	CCDS31532.1																																																																																				PASS	0.393	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		10	143	10	143	---	---	---	---
OR5M11	219487	broad.mit.edu	37	11	56310301	56310301	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:56310301T>A	ENST00000528616.2	-	1	456	c.433A>T	c.(433-435)Aca>Tca	p.T145S		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T145S(1)|p.T146S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TAGGGAAATGTGGCCAAGCAG	0.507																																						uc010rjl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(433-435)ACA>TCA		olfactory receptor, family 5, subfamily M,							46.0	49.0	48.0					11																	56310301		2145	4269	6414	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310301T>A	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.433A>T	11.37:g.56310301T>A	ENSP00000432417:p.Thr145Ser						p.T145S	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN			1	433	-			145			Helical; Name=4; (Potential).		B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.433A>T	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	T	2.453	-0.325931	0.05350	.	.	ENSG00000255223	ENST00000528616	T	0.36878	1.23	5.21	0.273	0.15650	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.16041	0.0386	N	0.10664	0.02	0.09310	N	1	B	0.06786	0.001	B	0.18263	0.021	T	0.27331	-1.0077	9	0.25106	T	0.35	.	4.825	0.13412	0.1501:0.3942:0.0:0.4557	.	145	Q96RB7	OR5MB_HUMAN	S	145	ENSP00000432417:T145S	ENSP00000432417:T145S	T	-	1	0	OR5M11	56066877	0.000000	0.05858	0.097000	0.21041	0.284000	0.27059	-1.508000	0.02266	-0.092000	0.12417	-0.354000	0.07668	ACA		PASS	0.507	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		18	49	18	49	---	---	---	---
OR5M11	219487	broad.mit.edu	37	11	56310358	56310358	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:56310358A>T	ENST00000528616.2	-	1	399	c.376T>A	c.(376-378)Tat>Aat	p.Y126N		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y126N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGAGGGTCATATATGGCCACA	0.483																																						uc010rjl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(376-378)TAT>AAT		olfactory receptor, family 5, subfamily M,							58.0	60.0	60.0					11																	56310358		2193	4292	6485	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310358A>T	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.376T>A	11.37:g.56310358A>T	ENSP00000432417:p.Tyr126Asn						p.Y126N	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN			1	376	-			126			Cytoplasmic (Potential).		B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.376T>A	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.044885	0.36085	.	.	ENSG00000255223	ENST00000528616	T	0.01323	5.01	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02012	0.0063	L	0.35288	1.05	0.31989	N	0.604835	B	0.16396	0.017	B	0.22386	0.039	T	0.12578	-1.0542	9	0.87932	D	0	.	13.9838	0.64321	1.0:0.0:0.0:0.0	.	126	Q96RB7	OR5MB_HUMAN	N	126	ENSP00000432417:Y126N	ENSP00000432417:Y126N	Y	-	1	0	OR5M11	56066934	0.959000	0.32827	0.913000	0.36048	0.273000	0.26683	4.537000	0.60643	2.170000	0.68504	0.514000	0.50259	TAT		PASS	0.483	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		25	49	25	49	---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57077578	57077578	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:57077578C>G	ENST00000532437.1	-	5	2918	c.2607G>C	c.(2605-2607)aaG>aaC	p.K869N	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.K869N|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	869	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.K869N(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GTGAATCTCTCTTTCCGAATT	0.532																																						uc001njr.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2605-2607)AAG>AAC		tankyrase 1-binding protein 1							133.0	148.0	143.0					11																	57077578		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077578C>G	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2607G>C	11.37:g.57077578C>G	ENSP00000437271:p.Lys869Asn					TNKS1BP1_uc001njs.2_Missense_Mutation_p.K869N|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.K320N	p.K869N	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			5	2919	-		all_epithelial(135;0.21)	869			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.2607G>C	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223554	0.58668	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.42513	0.97;0.97	5.47	4.56	0.56223	.	0.000000	0.53938	D	0.000045	T	0.62233	0.2411	M	0.74881	2.28	0.31204	N	0.699484	D	0.76494	0.999	D	0.83275	0.996	T	0.67933	-0.5542	10	0.54805	T	0.06	-31.33	11.397	0.49847	0.0:0.9148:0.0:0.0852	.	869	Q9C0C2	TB182_HUMAN	N	869	ENSP00000350990:K869N;ENSP00000437271:K869N	ENSP00000350990:K869N	K	-	3	2	TNKS1BP1	56834154	0.842000	0.29525	0.958000	0.39756	0.530000	0.34684	2.529000	0.45632	1.328000	0.45358	0.462000	0.41574	AAG		PASS	0.532	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		4	361	4	361	---	---	---	---
GLYATL1	92292	broad.mit.edu	37	11	58722807	58722807	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:58722807C>A	ENST00000317391.4	+	7	812	c.472C>A	c.(472-474)Cca>Aca	p.P158T	GLYATL1_ENST00000300079.5_Missense_Mutation_p.P189T|RP11-142C4.6_ENST00000533954.1_RNA|RP11-142C4.6_ENST00000525714.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	158						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)	p.P189T(1)|p.P158T(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GACAGGCCACCCAGATGATGA	0.398																																						uc001nnf.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(472-474)CCA>ACA		SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	Glycine(DB00145)						62.0	59.0	60.0					11																	58722807		2201	4295	6496	SO:0001583	missense	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58722807C>A	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.472C>A	11.37:g.58722807C>A	ENSP00000322223:p.Pro158Thr					uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.P189T|GLYATL1_uc001nni.1_Missense_Mutation_p.P158T|GLYATL1_uc001nnj.1_Missense_Mutation_p.P158T	p.P158T			Q969I3	GLYL1_HUMAN			7	848	+			158					A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	c.472C>A	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	7.863	0.726436	0.15439	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.17691	2.26;2.26	2.01	0.853	0.19001	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	2.958150	0.02276	U	0.068939	T	0.34424	0.0897	L	0.53561	1.675	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	T	0.13683	-1.0500	9	.	.	.	.	3.1384	0.06447	0.0:0.6776:0.0:0.3224	.	189;158	Q969I3-2;Q969I3	.;GLYL1_HUMAN	T	135;158;189	ENSP00000322223:P158T;ENSP00000300079:P189T	.	P	+	1	0	GLYATL1	58479383	0.004000	0.15560	0.030000	0.17652	0.229000	0.25112	0.547000	0.23299	0.925000	0.37094	0.411000	0.27672	CCA		PASS	0.398	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		50	100	50	100	---	---	---	---
FAM111A	63901	broad.mit.edu	37	11	58920584	58920584	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:58920584G>A	ENST00000528737.1	+	5	4261	c.1443G>A	c.(1441-1443)caG>caA	p.Q481Q	FAM111A_ENST00000533703.1_Silent_p.Q481Q|FAM111A_ENST00000420244.1_Silent_p.Q481Q|FAM111A_ENST00000531147.1_Silent_p.Q481Q|FAM111A_ENST00000361723.3_Silent_p.Q481Q			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	481	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.Q481Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AAAAAAAGCAGATTGATGCTT	0.408																																						uc010rkp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1441-1443)CAG>CAA		hypothetical protein LOC63901							95.0	99.0	97.0					11																	58920584		2201	4295	6496	SO:0001819	synonymous_variant	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920584G>A	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1443G>A	11.37:g.58920584G>A						FAM111A_uc010rkq.1_Silent_p.Q481Q|FAM111A_uc010rkr.1_Silent_p.Q481Q|FAM111A_uc001nno.2_Silent_p.Q481Q|FAM111A_uc001nnp.2_Silent_p.Q481Q|FAM111A_uc001nnq.2_Silent_p.Q481Q	p.Q481Q	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN			5	1670	+		all_epithelial(135;0.139)	481					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Silent	SNP	ENST00000528737.1	37	c.1443G>A	CCDS7973.1																																																																																				PASS	0.408	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		32	244	32	244	---	---	---	---
DTX4	23220	broad.mit.edu	37	11	58972187	58972187	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:58972187C>G	ENST00000227451.3	+	9	1769	c.1665C>G	c.(1663-1665)ctC>ctG	p.L555L	DTX4_ENST00000532982.1_Silent_p.L449L	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	555					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L449L(1)|p.L555L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				ATCGCCGCCTCATTTTTGCCA	0.522																																						uc001nns.2																			2	Substitution - coding silent(2)		lung(2)	lung(2)|central_nervous_system(1)	3						c.(1663-1665)CTC>CTG		deltex 4 homolog							70.0	67.0	68.0					11																	58972187		2099	4242	6341	SO:0001819	synonymous_variant	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58972187C>G	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1665C>G	11.37:g.58972187C>G						DTX4_uc001nnr.2_Silent_p.L449L	p.L555L	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN			9	1922	+		all_epithelial(135;0.125)	555					Q0VF38	Silent	SNP	ENST00000227451.3	37	c.1665C>G	CCDS44612.1																																																																																				PASS	0.522	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		4	32	4	32	---	---	---	---
TMEM132A	54972	broad.mit.edu	37	11	60704150	60704150	+	Nonsense_Mutation	SNP	C	C	G	rs552864241		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:60704150C>G	ENST00000453848.2	+	11	3001	c.2843C>G	c.(2842-2844)tCa>tGa	p.S948*	TMEM132A_ENST00000005286.4_Nonsense_Mutation_p.S949*			Q24JP5	T132A_HUMAN	transmembrane protein 132A	948	Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.S949*(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						ACCAGCTCCTCAAGCACCCTG	0.701																																						uc001nqj.2																			2	Substitution - Nonsense(2)		lung(2)	skin(1)	1						c.(2842-2844)TCA>TGA		transmembrane protein 132A isoform b							9.0	13.0	12.0					11																	60704150		2185	4266	6451	SO:0001587	stop_gained	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60704150C>G	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2843C>G	11.37:g.60704150C>G	ENSP00000405823:p.Ser948*					TMEM132A_uc001nqi.2_Nonsense_Mutation_p.S949*|TMEM132A_uc001nqm.2_Nonsense_Mutation_p.S158*	p.S948*	NM_178031	NP_821174	Q24JP5	T132A_HUMAN			11	3036	+			948			Cytoplasmic (Potential).|Confers cellular localization similar to full-length form (By similarity).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Nonsense_Mutation	SNP	ENST00000453848.2	37	c.2843C>G	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509776	0.85282	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	.	.	.	4.08	2.15	0.27550	.	1.231740	0.05804	N	0.612775	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.4746	10.8796	0.46931	0.1471:0.7113:0.1416:0.0	.	.	.	.	X	699;948;949	.	ENSP00000005286:S949X	S	+	2	0	TMEM132A	60460726	0.001000	0.12720	0.002000	0.10522	0.061000	0.15899	1.317000	0.33631	0.652000	0.30806	0.655000	0.94253	TCA		PASS	0.701	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		13	21	13	21	---	---	---	---
SLC15A3	51296	broad.mit.edu	37	11	60714262	60714262	+	Missense_Mutation	SNP	C	C	A	rs142952480	byFrequency	TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:60714262C>A	ENST00000227880.3	-	2	823	c.590G>T	c.(589-591)cGc>cTc	p.R197L		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	197					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)	p.R197L(1)		central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GTTGAAGAAGCGGCGGGTGGC	0.597																																						uc001nqn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(589-591)CGC>CTC		solute carrier family 15, member 3							109.0	109.0	109.0					11																	60714262		2203	4299	6502	SO:0001583	missense	51296				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr11:60714262C>A	AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"""Solute carriers"""	18068	protein-coding gene	gene with protein product		610408	"""solute carrier family 15, member 3"""			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.590G>T	11.37:g.60714262C>A	ENSP00000227880:p.Arg197Leu					SLC15A3_uc001nqo.2_Missense_Mutation_p.R197L	p.R197L	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN			2	824	-			197					Q9P2X9	Missense_Mutation	SNP	ENST00000227880.3	37	c.590G>T	CCDS7998.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010068	0.93346	.	.	ENSG00000110446	ENST00000227880;ENST00000442626;ENST00000536491;ENST00000538739	T;T;T	0.58797	0.31;0.31;0.31	4.65	4.65	0.58169	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.53938	D	0.000057	T	0.75796	0.3898	M	0.77313	2.365	0.45439	D	0.998418	P;D	0.89917	0.953;1.0	P;D	0.91635	0.891;0.999	T	0.75164	-0.3414	10	0.36615	T	0.2	-31.7992	16.8305	0.85943	0.0:1.0:0.0:0.0	.	197;197	F5H1C8;Q8IY34	.;S15A3_HUMAN	L	197;197;10;64	ENSP00000227880:R197L;ENSP00000439535:R10L;ENSP00000441559:R64L	ENSP00000227880:R197L	R	-	2	0	SLC15A3	60470838	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.204000	0.77872	2.596000	0.87737	0.591000	0.81541	CGC		PASS	0.597	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	NM_016582		61	157	61	157	---	---	---	---
VWCE	220001	broad.mit.edu	37	11	61026260	61026260	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:61026260G>A	ENST00000335613.5	-	20	3141	c.2755C>T	c.(2755-2757)Cgc>Tgc	p.R919C	VWCE_ENST00000535710.1_Missense_Mutation_p.R384C	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	919						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R919C(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GAAAGCACGCGAGGCCCGAGG	0.667																																						uc001nra.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2755-2757)CGC>TGC		von Willebrand factor C and EGF domains							58.0	65.0	63.0					11																	61026260		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61026260G>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2755C>T	11.37:g.61026260G>A	ENSP00000334186:p.Arg919Cys					VWCE_uc001nrb.2_RNA	p.R919C	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			20	3034	-			919					A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.2755C>T	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925261	0.52759	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.70045	-0.45;3.4	4.81	2.78	0.32641	.	0.792777	0.10541	N	0.662673	T	0.61689	0.2367	L	0.58101	1.795	0.09310	N	1	D	0.63880	0.993	B	0.44315	0.446	T	0.55224	-0.8174	10	0.62326	D	0.03	.	5.3999	0.16291	0.1037:0.0:0.6979:0.1983	.	919	Q96DN2	VWCE_HUMAN	C	919;384	ENSP00000334186:R919C;ENSP00000442570:R384C	ENSP00000334186:R919C	R	-	1	0	VWCE	60782836	0.326000	0.24669	0.049000	0.19019	0.002000	0.02628	1.374000	0.34283	1.133000	0.42147	0.561000	0.74099	CGC		PASS	0.667	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		34	142	34	142	---	---	---	---
BEST1	7439	broad.mit.edu	37	11	61729985	61729985	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:61729985C>T	ENST00000378043.4	+	10	2002	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	BEST1_ENST00000378042.3_Silent_p.F366F|BEST1_ENST00000301774.9_Silent_p.F81F|BEST1_ENST00000449131.2_Silent_p.F393F|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000534553.1_3'UTR	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	453					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.F393F(1)|p.F453F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						TGGACGCCTTCAAGTCTGCCC	0.587																																						uc001nss.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(1357-1359)TTC>TTT		bestrophin 1 isoform 1							92.0	91.0	91.0					11																	61729985		2202	4299	6501	SO:0001819	synonymous_variant	7439				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	g.chr11:61729985C>T	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1359C>T	11.37:g.61729985C>T						BEST1_uc010rlq.1_3'UTR|BEST1_uc010rlr.1_3'UTR|BEST1_uc010rls.1_Silent_p.F81F|BEST1_uc001nsr.2_Silent_p.F393F|BEST1_uc009ynt.2_RNA|BEST1_uc010rlt.1_Silent_p.F393F|BEST1_uc001nst.2_Silent_p.F366F|BEST1_uc010rlu.1_3'UTR|BEST1_uc010rlv.1_Silent_p.F347F	p.F453F	NM_004183	NP_004174	O76090	BEST1_HUMAN			10	1939	+			453			Cytoplasmic (Potential).		A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Silent	SNP	ENST00000378043.4	37	c.1359C>T	CCDS31580.1																																																																																				PASS	0.587	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		12	131	12	131	---	---	---	---
EML3	256364	broad.mit.edu	37	11	62378413	62378413	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:62378413C>T	ENST00000394773.2	-	4	811	c.504G>A	c.(502-504)caG>caA	p.Q168Q	ROM1_ENST00000534093.1_5'Flank|EML3_ENST00000494176.2_Silent_p.Q140Q|EML3_ENST00000278845.4_Silent_p.Q169Q|ROM1_ENST00000278833.3_5'Flank|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000531557.1_5'UTR|EML3_ENST00000529309.1_Silent_p.Q168Q	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	168						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.Q168Q(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGGAGAGCTTCTGCCGAGGCC	0.617																																						uc001ntu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(502-504)CAG>CAA		echinoderm microtubule associated protein like							43.0	45.0	44.0					11																	62378413		2202	4299	6501	SO:0001819	synonymous_variant	256364					cytoplasm|microtubule	protein binding	g.chr11:62378413C>T	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.504G>A	11.37:g.62378413C>T						EML3_uc001ntr.1_Silent_p.Q140Q|EML3_uc001nts.1_Silent_p.Q140Q|EML3_uc001ntt.1_Silent_p.Q52Q|EML3_uc010rly.1_Silent_p.Q168Q|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.2_5'Flank	p.Q168Q	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN			4	812	-			168					Q6ZQW7|Q8NA55	Silent	SNP	ENST00000394773.2	37	c.504G>A	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667492	0.47677	.	.	ENSG00000149499	ENST00000394776	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	T	0.69242	0.3089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68108	-0.5496	4	.	.	.	-18.7169	13.9522	0.64126	0.0:1.0:0.0:0.0	.	.	.	.	K	163	.	.	E	-	1	0	EML3	62134989	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.269000	0.51592	2.369000	0.80426	0.313000	0.20887	GAA		PASS	0.617	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		9	82	9	82	---	---	---	---
SLC3A2	6520	broad.mit.edu	37	11	62623803	62623803	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:62623803G>T	ENST00000377890.2	+	1	230	c.62G>T	c.(61-63)gGc>gTc	p.G21V	SNHG1_ENST00000384693.1_RNA|SNHG1_ENST00000363981.1_RNA|SNHG1_ENST00000516331.1_RNA|SLC3A2_ENST00000535296.1_Missense_Mutation_p.G21V|SNHG1_ENST00000384147.1_RNA|SNHG1_ENST00000364799.1_RNA|SLC3A2_ENST00000377889.2_Missense_Mutation_p.G21V|SNHG1_ENST00000365607.1_RNA|SNHG1_ENST00000383926.1_RNA|SNHG1_ENST00000384706.1_RNA|SLC3A2_ENST00000377892.1_Missense_Mutation_p.G21V|SLC3A2_ENST00000377891.2_Missense_Mutation_p.G21V	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	21					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)	p.G21V(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CAGTTGCCTGGCTCACATTCG	0.647																																						uc001nwd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(61-63)GGC>GTC		solute carrier family 3, member 2 isoform c							101.0	83.0	89.0					11																	62623803		2201	4299	6500	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62623803G>T		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.62G>T	11.37:g.62623803G>T	ENSP00000367122:p.Gly21Val					SLC3A2_uc001nwb.2_Missense_Mutation_p.G21V|SLC3A2_uc001nwc.2_Missense_Mutation_p.G21V|SLC3A2_uc001nwe.2_Missense_Mutation_p.G21V|SLC3A2_uc001nwf.2_Missense_Mutation_p.G21V|SNHG1_uc001nvp.2_5'Flank|SNHG1_uc001nvo.2_5'Flank|SNHG1_uc001nvq.2_5'Flank|SNHG1_uc001nvs.2_5'Flank|SNHG1_uc001nvr.2_5'Flank|SNHG1_uc001nvt.2_5'Flank|SNHG1_uc001nvu.2_5'Flank|SNORD31_uc009yoj.1_5'Flank|SNORD30_uc001nvw.1_5'Flank|SNORD29_uc001nvx.2_5'Flank|SNORD28_uc001nvy.1_5'Flank|SNORD27_uc001nvz.2_5'Flank|SNORD26_uc009yok.1_5'Flank|SNORD25_uc001nwa.3_5'Flank	p.G21V	NM_002394	NP_002385	P08195	4F2_HUMAN			1	286	+			21					Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.62G>T	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132675	0.56828	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296	D;T;D;D;D	0.99466	-5.7;1.95;-5.12;-5.95;-4.95	3.93	2.98	0.34508	.	.	.	.	.	D	0.98121	0.9380	M	0.66506	2.035	0.09310	N	1	B;B;B;B	0.33238	0.02;0.13;0.18;0.403	B;B;B;B	0.27715	0.031;0.051;0.037;0.082	D	0.96306	0.9225	9	0.37606	T	0.19	-0.8992	9.4727	0.38853	0.0:0.2166:0.7834:0.0	.	21;21;21;21	P08195-3;F5GZS6;P08195;P08195-4	.;.;4F2_HUMAN;.	V	21	ENSP00000367124:G21V;ENSP00000367123:G21V;ENSP00000367122:G21V;ENSP00000367121:G21V;ENSP00000444236:G21V	ENSP00000367121:G21V	G	+	2	0	SLC3A2	62380379	0.001000	0.12720	0.016000	0.15963	0.018000	0.09664	0.580000	0.23803	0.931000	0.37242	0.313000	0.20887	GGC		PASS	0.647	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		9	172	9	172	---	---	---	---
HRASLS2	54979	broad.mit.edu	37	11	63320533	63320533	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:63320533G>A	ENST00000255695.1	-	4	450	c.392C>T	c.(391-393)aCt>aTt	p.T131I		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	131					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|transferase activity, transferring acyl groups (GO:0016746)	p.T131I(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						GACTGCACCAGTGACCTGCAG	0.577																																						uc001nxg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)ACT>ATT		HRAS-like suppressor 2							65.0	61.0	62.0					11																	63320533		2201	4298	6499	SO:0001583	missense	54979				lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity	g.chr11:63320533G>A		CCDS8046.1	11q12.2	2008-07-18			ENSG00000133328	ENSG00000133328			17824	protein-coding gene	gene with protein product		613866					Standard	NM_017878		Approved	FLJ20556	uc001nxg.1	Q9NWW9	OTTHUMG00000167851	ENST00000255695.1:c.392C>T	11.37:g.63320533G>A	ENSP00000255695:p.Thr131Ile						p.T131I	NM_017878	NP_060348	Q9NWW9	HRSL2_HUMAN			4	451	-			131					B9A7L8	Missense_Mutation	SNP	ENST00000255695.1	37	c.392C>T	CCDS8046.1	.	.	.	.	.	.	.	.	.	.	G	9.556	1.117281	0.20795	.	.	ENSG00000133328	ENST00000255695	T	0.36878	1.23	3.7	-0.984	0.10259	NC (1);	1.604590	0.04712	U	0.417826	T	0.18593	0.0446	N	0.08118	0	0.09310	N	1	B	0.29432	0.244	B	0.32289	0.143	T	0.22452	-1.0216	10	0.46703	T	0.11	-8.3372	2.2803	0.04112	0.1186:0.38:0.3219:0.1795	.	131	Q9NWW9	HRSL2_HUMAN	I	131	ENSP00000255695:T131I	ENSP00000255695:T131I	T	-	2	0	HRASLS2	63077109	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-2.383000	0.01063	0.016000	0.14998	0.655000	0.94253	ACT		PASS	0.577	HRASLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396631.1	NM_017878		18	67	18	67	---	---	---	---
MACROD1	28992	broad.mit.edu	37	11	63918818	63918818	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:63918818A>T	ENST00000255681.6	-	3	476	c.410T>A	c.(409-411)gTg>gAg	p.V137E	MACROD1_ENST00000538595.1_5'UTR	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	137					cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.V137E(1)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CTCCACCTTCACAGCCACCCC	0.627																																						uc001nyh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(409-411)GTG>GAG		MACRO domain containing 1							124.0	109.0	114.0					11																	63918818		2201	4297	6498	SO:0001583	missense	28992							g.chr11:63918818A>T	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.410T>A	11.37:g.63918818A>T	ENSP00000255681:p.Val137Glu						p.V137E	NM_014067	NP_054786	Q9BQ69	MACD1_HUMAN			3	529	-			137					Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.410T>A	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	A	8.174	0.792297	0.16258	.	.	ENSG00000133315	ENST00000255681	T	0.22539	1.95	3.86	-6.62	0.01813	.	0.665619	0.12125	N	0.497308	T	0.08891	0.0220	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.43766	-0.9371	10	0.05351	T	0.99	-2.535	6.9116	0.24338	0.2168:0.2864:0.4968:0.0	.	137	Q9BQ69	MACD1_HUMAN	E	137	ENSP00000255681:V137E	ENSP00000255681:V137E	V	-	2	0	MACROD1	63675394	0.000000	0.05858	0.005000	0.12908	0.040000	0.13550	-0.377000	0.07456	-1.195000	0.02680	-0.609000	0.04063	GTG		PASS	0.627	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		8	86	8	86	---	---	---	---
CDC42BPG	55561	broad.mit.edu	37	11	64606236	64606236	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:64606236C>A	ENST00000342711.5	-	8	1014	c.1015G>T	c.(1015-1017)Ggc>Tgc	p.G339C		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)									p.G339C(1)		central_nervous_system(1)|lung(3)	4						CAGTCCACGCCTTCGAAGAAA	0.632																																						uc001obs.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(1)	4						c.(1015-1017)GGC>TGC		CDC42 binding protein kinase gamma (DMPK-like)							57.0	55.0	56.0					11																	64606236		2201	4296	6497	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64606236C>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1015G>T	11.37:g.64606236C>A	ENSP00000345133:p.Gly339Cys						p.G339C	NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN			8	1015	-			339			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000342711.5	37	c.1015G>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632388	0.67015	.	.	ENSG00000171219	ENST00000342711	T	0.26957	1.7	4.72	4.72	0.59763	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.112115	0.39544	N	0.001332	T	0.57666	0.2069	M	0.88704	2.975	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.67150	-0.5743	10	0.87932	D	0	.	15.5446	0.76086	0.0:1.0:0.0:0.0	.	339	Q6DT37	MRCKG_HUMAN	C	339	ENSP00000345133:G339C	ENSP00000345133:G339C	G	-	1	0	CDC42BPG	64362812	0.786000	0.28738	0.504000	0.27639	0.490000	0.33462	2.655000	0.46707	2.355000	0.79922	0.561000	0.74099	GGC		PASS	0.632	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		19	56	19	56	---	---	---	---
SLC22A20	440044	broad.mit.edu	37	11	65003911	65003911	+	RNA	SNP	G	G	A	rs540268861		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:65003911G>A	ENST00000525437.1	+	0	1328							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.A376T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CCCAGGCAGCGCTGGGCAAAG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		19544	0.0		0.0	False		,,,				2504	0.001					uc010roc.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1288-1290)GCG>GCA		solute carrier family 22, member 20							32.0	35.0	34.0					11																	65003911		2029	4185	6214			440044				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:65003911G>A	DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.65003911G>A						SLC22A20_uc001odi.3_RNA	p.A430A	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN			9	1293	+			430			Helical; (Potential).		B9EJB2|Q6ZN88	Silent	SNP	ENST00000525437.1	37	c.1290G>A																																																																																					PASS	0.632	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000385336.1	NM_001004326		9	9	9	9	---	---	---	---
RAD9A	5883	broad.mit.edu	37	11	67159653	67159653	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:67159653C>T	ENST00000307980.2	+	2	149	c.56C>T	c.(55-57)tCc>tTc	p.S19F		NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	19					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)	p.S19F(1)		lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCCGTCCACTCCCTGTCCCGC	0.716								Other conserved DNA damage response genes																														uc001okr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(55-57)TCC>TTC	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	RAD9 homolog							18.0	22.0	20.0					11																	67159653		2199	4290	6489	SO:0001583	missense	5883				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding	g.chr11:67159653C>T	U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"""RAD9 (S. pombe) homolog"""	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.56C>T	11.37:g.67159653C>T	ENSP00000311360:p.Ser19Phe						p.S19F	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		2	149	+			19					B2RCZ8|Q6FI29|Q96C41	Missense_Mutation	SNP	ENST00000307980.2	37	c.56C>T	CCDS8159.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617152	0.87359	.	.	ENSG00000172613	ENST00000307980;ENST00000544620	T;T	0.25749	1.78;1.78	3.83	3.83	0.44106	.	0.128968	0.53938	D	0.000051	T	0.43344	0.1243	L	0.59436	1.845	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.17930	-1.0353	10	0.35671	T	0.21	-13.2266	11.4106	0.49923	0.0:1.0:0.0:0.0	.	19	Q99638	RAD9A_HUMAN	F	19	ENSP00000311360:S19F;ENSP00000444979:S19F	ENSP00000311360:S19F	S	+	2	0	RAD9A	66916229	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	5.244000	0.65400	2.128000	0.65567	0.462000	0.41574	TCC		PASS	0.716	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395481.2	NM_004584		9	25	9	25	---	---	---	---
RAD9A	5883	broad.mit.edu	37	11	67159668	67159668	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:67159668G>T	ENST00000307980.2	+	2	164	c.71G>T	c.(70-72)gGg>gTg	p.G24V		NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	24					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)	p.G24V(1)		lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TCCCGCATCGGGGACGAGCTC	0.711								Other conserved DNA damage response genes																														uc001okr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(70-72)GGG>GTG	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	RAD9 homolog							16.0	20.0	18.0					11																	67159668		2197	4294	6491	SO:0001583	missense	5883				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding	g.chr11:67159668G>T	U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"""RAD9 (S. pombe) homolog"""	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.71G>T	11.37:g.67159668G>T	ENSP00000311360:p.Gly24Val						p.G24V	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		2	164	+			24					B2RCZ8|Q6FI29|Q96C41	Missense_Mutation	SNP	ENST00000307980.2	37	c.71G>T	CCDS8159.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647090	0.87958	.	.	ENSG00000172613	ENST00000307980;ENST00000544620	T;T	0.31769	1.48;1.48	3.83	3.83	0.44106	.	0.124247	0.53938	D	0.000050	T	0.58609	0.2134	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64896	-0.6299	10	0.54805	T	0.06	-11.294	11.4106	0.49923	0.0:0.0:1.0:0.0	.	24	Q99638	RAD9A_HUMAN	V	24	ENSP00000311360:G24V;ENSP00000444979:G24V	ENSP00000311360:G24V	G	+	2	0	RAD9A	66916244	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	6.638000	0.74309	2.128000	0.65567	0.462000	0.41574	GGG		PASS	0.711	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395481.2	NM_004584		10	25	10	25	---	---	---	---
IGHMBP2	3508	broad.mit.edu	37	11	68700813	68700813	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:68700813G>A	ENST00000255078.3	+	9	1393	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	428					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)	p.E428K(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGCCTGGCTGAGGAGTACGG	0.652																																						uc001ook.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1282-1284)GAG>AAG		immunoglobulin mu binding protein 2							60.0	44.0	50.0					11																	68700813		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68700813G>A	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1282G>A	11.37:g.68700813G>A	ENSP00000255078:p.Glu428Lys					IGHMBP2_uc001ool.1_Missense_Mutation_p.E52K|IGHMBP2_uc001oom.1_Missense_Mutation_p.E6K	p.E428K	NM_002180	NP_002171	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		9	1384	+			428					A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.1282G>A	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	3.604	-0.080894	0.07141	.	.	ENSG00000132740	ENST00000255078	D	0.81659	-1.52	4.92	0.861	0.19048	DEAD-like helicase (1);	0.826234	0.11090	N	0.600871	T	0.59032	0.2164	N	0.11892	0.195	0.48341	D	0.999638	B	0.06786	0.001	B	0.10450	0.005	T	0.42766	-0.9432	10	0.08837	T	0.75	-23.2456	6.8606	0.24064	0.2186:0.1263:0.6551:0.0	.	428	P38935	SMBP2_HUMAN	K	428	ENSP00000255078:E428K	ENSP00000255078:E428K	E	+	1	0	IGHMBP2	68457389	0.471000	0.25862	0.001000	0.08648	0.018000	0.09664	0.705000	0.25675	0.135000	0.18707	-0.794000	0.03295	GAG		PASS	0.652	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		50	37	50	37	---	---	---	---
TPCN2	219931	broad.mit.edu	37	11	68851471	68851471	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:68851471G>A	ENST00000294309.3	+	19	1849	c.1748G>A	c.(1747-1749)gGc>gAc	p.G583D	TPCN2_ENST00000442692.2_3'UTR|MIR3164_ENST00000581178.1_RNA|TPCN2_ENST00000542467.1_Intron	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	583					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)	p.G583D(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGTGCGTTTGGCGGGATCCTG	0.667																																						uc001oos.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1747-1749)GGC>GAC		two pore segment channel 2							189.0	143.0	159.0					11																	68851471		2200	4294	6494	SO:0001583	missense	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68851471G>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.1748G>A	11.37:g.68851471G>A	ENSP00000294309:p.Gly583Asp					TPCN2_uc010rqg.1_Intron|TPCN2_uc001oot.2_RNA	p.G583D	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		19	1864	+			583			Helical; Name=S5 of repeat II; (Potential).		Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	c.1748G>A	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969826	0.53614	.	.	ENSG00000162341	ENST00000356782;ENST00000294309	D	0.98585	-5.01	3.76	2.73	0.32206	Ion transport (1);	0.138107	0.46145	D	0.000304	D	0.97980	0.9335	M	0.72894	2.215	0.80722	D	1	D	0.60575	0.988	P	0.57846	0.828	D	0.97465	1.0037	10	0.66056	D	0.02	-14.5433	9.7633	0.40545	0.0:0.4722:0.5278:0.0	.	583	Q8NHX9	TPC2_HUMAN	D	440;583	ENSP00000294309:G583D	ENSP00000294309:G583D	G	+	2	0	TPCN2	68608047	1.000000	0.71417	0.744000	0.31058	0.490000	0.33462	4.924000	0.63418	1.822000	0.53115	0.462000	0.41574	GGC		PASS	0.667	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		11	205	11	205	---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70319315	70319315	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:70319315G>C	ENST00000423696.2	-	16	4108	c.4072C>G	c.(4072-4074)Ctc>Gtc	p.L1358V	SHANK2_ENST00000449833.2_Missense_Mutation_p.L1142V|SHANK2_ENST00000409161.1_Missense_Mutation_p.L1141V|SHANK2_ENST00000338508.4_Missense_Mutation_p.L1738V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1358					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.L1142V(1)|p.L1738V(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACATCTGAGAGAGCGGGAGAA	0.602																																						uc001oqc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(5209-5211)CTC>GTC		SH3 and multiple ankyrin repeat domains 2							57.0	72.0	67.0					11																	70319315		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319315G>C	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.4072C>G	11.37:g.70319315G>C	ENSP00000394536:p.Leu1358Val					SHANK2_uc010rqn.1_Missense_Mutation_p.L1149V|SHANK2_uc001opz.2_Missense_Mutation_p.L1142V|uc009ysn.1_Missense_Mutation_p.R72T|SHANK2_uc001opy.2_Missense_Mutation_p.L73V	p.L1737V	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		22	5287	-			1358					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.5209C>G		.	.	.	.	.	.	.	.	.	.	G	14.36	2.510742	0.44660	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.39787	2.35;2.34;3.06;1.06;2.48;2.47	5.91	4.95	0.65309	.	0.535961	0.17455	N	0.173630	T	0.28267	0.0698	N	0.22421	0.69	0.80722	D	1	P;P;B	0.49090	0.696;0.919;0.188	B;B;B	0.38880	0.232;0.284;0.238	T	0.03202	-1.1061	10	0.30854	T	0.27	.	13.7238	0.62745	0.0:0.0:0.7306:0.2694	.	1358;1737;1142	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	V	1142;1141;1016;1738;1358;1376;1361	ENSP00000399423:L1142V;ENSP00000386491:L1141V;ENSP00000402944:L1016V;ENSP00000345193:L1738V;ENSP00000394536:L1358V;ENSP00000294018:L1361V	ENSP00000294018:L1361V	L	-	1	0	SHANK2	69996963	0.992000	0.36948	0.942000	0.38095	0.914000	0.54420	1.965000	0.40471	2.799000	0.96334	0.650000	0.86243	CTC		PASS	0.602	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		11	608	11	608	---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70332825	70332825	+	Silent	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:70332825C>A	ENST00000423696.2	-	15	2472	c.2436G>T	c.(2434-2436)gcG>gcT	p.A812A	SHANK2_ENST00000449833.2_Silent_p.A596A|SHANK2_ENST00000409161.1_Silent_p.A595A|SHANK2_ENST00000338508.4_Silent_p.A1192A			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	812					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.A596A(1)|p.A1192A(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGCCGCTGCTCGCGGAGGGCA	0.706																																						uc001oqc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3571-3573)GCG>GCT		SH3 and multiple ankyrin repeat domains 2							20.0	27.0	24.0					11																	70332825		2192	4291	6483	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332825C>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2436G>T	11.37:g.70332825C>A						SHANK2_uc010rqn.1_Silent_p.A603A|SHANK2_uc001opz.2_Silent_p.A596A|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.A1191A	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	3651	-			812					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.3573G>T																																																																																					PASS	0.706	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		12	344	12	344	---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70332944	70332944	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:70332944C>T	ENST00000423696.2	-	15	2353	c.2317G>A	c.(2317-2319)Gag>Aag	p.E773K	SHANK2_ENST00000449833.2_Missense_Mutation_p.E557K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E556K|SHANK2_ENST00000338508.4_Missense_Mutation_p.E1153K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	773					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.E1153K(1)|p.E557K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTTTCGGGCTCCCTGGGCGTG	0.677																																						uc001oqc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3454-3456)GAG>AAG		SH3 and multiple ankyrin repeat domains 2							32.0	37.0	35.0					11																	70332944		2198	4288	6486	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332944C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2317G>A	11.37:g.70332944C>T	ENSP00000394536:p.Glu773Lys					SHANK2_uc010rqn.1_Missense_Mutation_p.E564K|SHANK2_uc001opz.2_Missense_Mutation_p.E557K|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.E1152K	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	3532	-			773					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3454G>A		.	.	.	.	.	.	.	.	.	.	C	3.392	-0.124007	0.06795	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.05	4.1	0.47936	.	0.511924	0.23165	N	0.051198	T	0.47173	0.1431	L	0.54323	1.7	0.80722	D	1	B;D;B	0.57899	0.376;0.981;0.239	B;P;B	0.46026	0.114;0.501;0.167	T	0.38308	-0.9667	10	0.21540	T	0.41	.	15.0614	0.71958	0.0:0.8572:0.1428:0.0	.	773;1152;557	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	K	557;556;431;1153;773;791;776	ENSP00000399423:E557K;ENSP00000386491:E556K;ENSP00000402944:E431K;ENSP00000345193:E1153K;ENSP00000394536:E773K;ENSP00000294018:E776K	ENSP00000294018:E776K	E	-	1	0	SHANK2	70010592	1.000000	0.71417	0.999000	0.59377	0.145000	0.21501	3.585000	0.53943	1.055000	0.40461	0.561000	0.74099	GAG		PASS	0.677	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		26	581	26	581	---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70333107	70333107	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:70333107C>T	ENST00000423696.2	-	15	2190	c.2154G>A	c.(2152-2154)agG>agA	p.R718R	SHANK2_ENST00000449833.2_Silent_p.R502R|SHANK2_ENST00000409161.1_Silent_p.R501R|SHANK2_ENST00000338508.4_Silent_p.R1098R			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	718					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.R502R(3)|p.R1098R(3)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCGGGGAGTTCCTCCTGGCTT	0.716																																						uc001oqc.2																			6	Substitution - coding silent(6)		lung(4)|cervix(2)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3289-3291)AGG>AGA		SH3 and multiple ankyrin repeat domains 2							21.0	26.0	25.0					11																	70333107		2162	4237	6399	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333107C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2154G>A	11.37:g.70333107C>T						SHANK2_uc010rqn.1_Silent_p.R509R|SHANK2_uc001opz.2_Silent_p.R502R|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.R1097R	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	3369	-			718					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.3291G>A																																																																																					PASS	0.716	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		18	261	18	261	---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70333132	70333132	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:70333132C>T	ENST00000423696.2	-	15	2165	c.2129G>A	c.(2128-2130)cGt>cAt	p.R710H	SHANK2_ENST00000449833.2_Missense_Mutation_p.R494H|SHANK2_ENST00000409161.1_Missense_Mutation_p.R493H|SHANK2_ENST00000338508.4_Missense_Mutation_p.R1090H			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	710					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.R1090H(1)|p.R494H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCGCTTCTCACGGTCGCGGAC	0.726																																						uc001oqc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3265-3267)CGT>CAT		SH3 and multiple ankyrin repeat domains 2							23.0	29.0	27.0					11																	70333132		2120	4157	6277	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333132C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2129G>A	11.37:g.70333132C>T	ENSP00000394536:p.Arg710His					SHANK2_uc010rqn.1_Missense_Mutation_p.R501H|SHANK2_uc001opz.2_Missense_Mutation_p.R494H|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.R1089H	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	3344	-			710					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3266G>A		.	.	.	.	.	.	.	.	.	.	C	19.36	3.813360	0.70912	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71	4.88	4.88	0.63580	.	0.050156	0.85682	D	0.000000	T	0.72285	0.3441	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	T	0.77968	-0.2388	10	0.87932	D	0	.	18.0342	0.89294	0.0:1.0:0.0:0.0	.	710;1089;494	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	H	494;493;368;1090;710;728;713	ENSP00000399423:R494H;ENSP00000386491:R493H;ENSP00000402944:R368H;ENSP00000345193:R1090H;ENSP00000394536:R710H;ENSP00000294018:R713H	ENSP00000294018:R713H	R	-	2	0	SHANK2	70010780	1.000000	0.71417	0.999000	0.59377	0.616000	0.37450	7.277000	0.78572	2.261000	0.74972	0.561000	0.74099	CGT		PASS	0.726	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		7	224	7	224	---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70333551	70333551	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:70333551C>G	ENST00000423696.2	-	15	1746	c.1710G>C	c.(1708-1710)ggG>ggC	p.G570G	SHANK2_ENST00000449833.2_Silent_p.G354G|SHANK2_ENST00000409161.1_Silent_p.G353G|SHANK2_ENST00000338508.4_Silent_p.G950G			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	570					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.G354G(1)|p.G950G(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGAAGTACATCCCCTTCTCCC	0.587																																						uc001oqc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(2845-2847)GGG>GGC		SH3 and multiple ankyrin repeat domains 2							89.0	76.0	81.0					11																	70333551		2200	4294	6494	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333551C>G	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1710G>C	11.37:g.70333551C>G						SHANK2_uc010rqn.1_Silent_p.G361G|SHANK2_uc001opz.2_Silent_p.G354G|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.G949G	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	2925	-			570					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.2847G>C																																																																																					PASS	0.587	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		26	498	26	498	---	---	---	---
CLPB	81570	broad.mit.edu	37	11	72040820	72040820	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:72040820C>G	ENST00000294053.3	-	7	1067	c.894G>C	c.(892-894)atG>atC	p.M298I	CLPB_ENST00000340729.5_Missense_Mutation_p.M239I|CLPB_ENST00000538039.1_Missense_Mutation_p.M268I|CLPB_ENST00000543042.1_Missense_Mutation_p.M97I|CLPB_ENST00000437826.2_Missense_Mutation_p.M253I	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	298					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.M298I(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GTGTGTGTCCCATTTCATTCC	0.542																																						uc001osj.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(892-894)ATG>ATC		caseinolytic peptidase B							92.0	89.0	90.0					11																	72040820		2200	4293	6493	SO:0001583	missense	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72040820C>G	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.894G>C	11.37:g.72040820C>G	ENSP00000294053:p.Met298Ile					CLPB_uc010rqx.1_Missense_Mutation_p.M253I|CLPB_uc010rqy.1_Missense_Mutation_p.M239I|CLPB_uc001osk.2_Missense_Mutation_p.M268I|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.M97I	p.M298I	NM_030813	NP_110440	Q9H078	CLPB_HUMAN			7	944	-			298			ANK 4.		B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	c.894G>C	CCDS8215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.36|15.36	2.810565|2.810565	0.50421|0.50421	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000544683|ENST00000544382	T;T;T;T;T;T;T|.	0.63744|.	1.44;-0.06;0.68;-0.06;0.68;0.68;-0.06|.	5.36|5.36	5.36|5.36	0.76844|0.76844	Ankyrin repeat-containing domain (3);|.	0.051487|.	0.85682|.	D|.	0.000000|.	T|T	0.51568|0.51568	0.1682|0.1682	N|N	0.16903|0.16903	0.455|0.455	0.47374|0.47374	D|D	0.999405|0.999405	B;B;P;B;P|.	0.38473|.	0.178;0.437;0.492;0.437;0.633|.	B;B;B;B;B|.	0.34242|.	0.054;0.111;0.178;0.111;0.178|.	T|T	0.46911|0.46911	-0.9157|-0.9157	10|5	0.48119|.	T|.	0.1|.	-23.3167|-23.3167	17.6563|17.6563	0.88179|0.88179	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	97;239;253;268;298|.	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078|.	.;.;.;.;CLPB_HUMAN|.	I|S	298;268;303;239;253;97;122|76	ENSP00000294053:M298I;ENSP00000441518:M268I;ENSP00000443822:M303I;ENSP00000340385:M239I;ENSP00000407296:M253I;ENSP00000439746:M97I;ENSP00000442651:M122I|.	ENSP00000294053:M298I|.	M|W	-|-	3|2	0|0	CLPB|CLPB	71718468|71718468	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.691000|0.691000	0.40173|0.40173	4.148000|4.148000	0.58085|0.58085	2.495000|2.495000	0.84180|0.84180	0.655000|0.655000	0.94253|0.94253	ATG|TGG		PASS	0.542	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		16	168	16	168	---	---	---	---
PDE2A	5138	broad.mit.edu	37	11	72290356	72290356	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:72290356G>C	ENST00000334456.5	-	27	2573	c.2328C>G	c.(2326-2328)atC>atG	p.I776M	PDE2A_ENST00000544570.1_Missense_Mutation_p.I769M|PDE2A_ENST00000540345.1_Missense_Mutation_p.I767M|PDE2A_ENST00000418754.2_Missense_Mutation_p.I661M|PDE2A_ENST00000376450.3_Missense_Mutation_p.I520M|PDE2A_ENST00000444035.2_Missense_Mutation_p.I767M	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	776	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.I776M(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GGTCCTTGAAGATGCGGAGAT	0.597																																						uc010rrc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(2326-2328)ATC>ATG		phosphodiesterase 2A isoform 1	Sildenafil(DB00203)|Sulindac(DB00605)						103.0	95.0	98.0					11																	72290356		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72290356G>C	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2328C>G	11.37:g.72290356G>C	ENSP00000334910:p.Ile776Met					PDE2A_uc001oso.2_Missense_Mutation_p.I755M|PDE2A_uc010rra.1_Missense_Mutation_p.I769M|PDE2A_uc001osn.2_Missense_Mutation_p.I520M|PDE2A_uc010rrb.1_Missense_Mutation_p.I767M|PDE2A_uc010rrd.1_Missense_Mutation_p.I661M	p.I776M	NM_002599	NP_002590	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		27	2571	-			776			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.2328C>G	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679094	0.68042	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000420501;ENST00000441209	T;T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.37	5.37	0.77165	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.85270	0.5658	L	0.55834	1.745	0.48696	D	0.999692	D;D;D;D;D;D	0.76494	0.999;0.998;0.998;0.999;0.998;0.999	D;D;D;D;D;D	0.76575	0.985;0.982;0.982;0.98;0.986;0.988	T	0.83269	-0.0044	10	0.33141	T	0.24	.	17.6997	0.88291	0.0:0.0:1.0:0.0	.	661;776;767;769;776;520	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	M	776;520;767;845;769;661;767;155;317	ENSP00000334910:I776M;ENSP00000365633:I520M;ENSP00000411657:I767M;ENSP00000442256:I769M;ENSP00000410310:I661M;ENSP00000446399:I767M;ENSP00000388997:I155M;ENSP00000392457:I317M	ENSP00000334910:I776M	I	-	3	3	PDE2A	71968004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.081000	0.50120	2.525000	0.85131	0.650000	0.86243	ATC		PASS	0.597	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		23	224	23	224	---	---	---	---
C2CD3	26005	broad.mit.edu	37	11	73748584	73748584	+	Silent	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:73748584C>A	ENST00000334126.7	-	30	6046	c.5820G>T	c.(5818-5820)ggG>ggT	p.G1940G	C2CD3_ENST00000313663.7_Silent_p.G1940G			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1940					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.G1940G(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TACACTGGCTCCCAGGGTCTA	0.527																																						uc001ouu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(2)|skin(1)	7						c.(5818-5820)GGG>GGT		C2 calcium-dependent domain containing 3							148.0	138.0	141.0					11																	73748584		2200	4293	6493	SO:0001819	synonymous_variant	26005					centrosome		g.chr11:73748584C>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5820G>T	11.37:g.73748584C>A						C2CD3_uc001out.2_RNA	p.G1940G	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			30	6047	-	Breast(11;4.16e-06)		1940					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37	c.5820G>T		.	.	.	.	.	.	.	.	.	.	C	8.309	0.821777	0.16678	.	.	ENSG00000168014	ENST00000538361	.	.	.	5.96	0.893	0.19236	.	.	.	.	.	.	.	.	.	.	.	0.33764	D	0.622218	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.1161	6.5332	0.22338	0.0:0.4118:0.3401:0.248	.	.	.	.	X	149	.	.	E	-	1	0	C2CD3	73426232	0.023000	0.18921	0.994000	0.49952	0.963000	0.63663	-0.220000	0.09215	0.126000	0.18424	0.655000	0.94253	GAG		PASS	0.527	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		65	392	65	392	---	---	---	---
RNF169	254225	broad.mit.edu	37	11	74555245	74555245	+	IGR	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:74555245G>C	ENST00000299563.4	+	0	7823				RN7SL239P_ENST00000490061.2_RNA|XRRA1_ENST00000321448.8_Missense_Mutation_p.L388V|XRRA1_ENST00000527087.1_Missense_Mutation_p.L576V|XRRA1_ENST00000340360.6_Missense_Mutation_p.L663V	NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169						cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)	p.L663V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						GGTTTCTGAAGAGTGTCCAGC	0.502																																						uc009yub.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1987-1989)CTT>GTT		X-ray radiation resistance associated 1							297.0	298.0	297.0					11																	74555245		2007	4179	6186	SO:0001628	intergenic_variant	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74555245G>C	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516		11.37:g.74555245G>C						XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Missense_Mutation_p.L286V|XRRA1_uc001ovo.2_Missense_Mutation_p.L271V|XRRA1_uc001ovq.3_Missense_Mutation_p.L576V|XRRA1_uc001ovp.3_Missense_Mutation_p.L388V|XRRA1_uc001ovr.2_Missense_Mutation_p.L286V|XRRA1_uc001ovs.1_Missense_Mutation_p.L265V	p.L663V	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN			17	2319	-			663					Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	c.1987C>G	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	G	7.440	0.640434	0.14386	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.51325	0.82;1.55;0.71	5.0	-5.77	0.02369	.	1.157110	0.06290	N	0.698954	T	0.29783	0.0744	L	0.48362	1.52	0.09310	N	1	B;B;B;B;B;B;B	0.33637	0.006;0.42;0.11;0.119;0.002;0.041;0.002	B;B;B;B;B;B;B	0.28991	0.003;0.061;0.018;0.097;0.011;0.011;0.002	T	0.16778	-1.0391	10	0.32370	T	0.25	0.4003	1.4083	0.02286	0.3166:0.2052:0.34:0.1382	.	663;265;219;576;607;273;649	Q6P2D8;B3KRF2;E9PP69;Q6P2D8-2;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.;.;.;.	V	663;388;649;607;576	ENSP00000339918:L663V;ENSP00000319303:L388V;ENSP00000435838:L576V	ENSP00000319303:L388V	L	-	1	0	XRRA1	74232893	0.000000	0.05858	0.000000	0.03702	0.288000	0.27193	-1.082000	0.03400	-1.068000	0.03156	-0.339000	0.08088	CTT		PASS	0.502	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		89	640	89	640	---	---	---	---
KLHL35	283212	broad.mit.edu	37	11	75139655	75139655	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:75139655C>T	ENST00000539798.1	-	2	897	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	KLHL35_ENST00000376292.4_Missense_Mutation_p.E80K	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	300								p.E300K(1)		lung(2)|stomach(1)	3						ACGATCACTTCAGCTAGGTCC	0.627																																					Colon(77;683 1691 18820 23811)	uc001owm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(238-240)GAA>AAA		kelch-like 35							37.0	43.0	41.0					11																	75139655		2033	4161	6194	SO:0001583	missense	283212							g.chr11:75139655C>T		CCDS44685.1, CCDS44685.2	11q13.4	2013-02-22	2013-02-22		ENSG00000149243	ENSG00000149243		"""Kelch-like"", ""BTB/POZ domain containing"""	26597	protein-coding gene	gene with protein product			"""kelch-like 35 (Drosophila)"""				Standard	NM_001039548		Approved	FLJ33790	uc001owm.2	Q6PF15	OTTHUMG00000133573	ENST00000539798.1:c.898G>A	11.37:g.75139655C>T	ENSP00000438526:p.Glu300Lys						p.E80K	NM_001039548	NP_001034637	Q6PF15	KLH35_HUMAN			2	457	-			80					A2RU06|F5H412|Q86XM7|Q8NBB1	Missense_Mutation	SNP	ENST00000539798.1	37	c.238G>A	CCDS44685.2	.	.	.	.	.	.	.	.	.	.	C	36	5.911132	0.97093	.	.	ENSG00000149243	ENST00000376292;ENST00000539798	T;T	0.67171	-0.25;-0.25	5.41	5.41	0.78517	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.80281	0.4594	M	0.70903	2.155	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.78740	-0.2086	10	0.41790	T	0.15	.	16.7464	0.85473	0.0:1.0:0.0:0.0	.	80	Q6PF15	KLH35_HUMAN	K	80;300	ENSP00000365469:E80K;ENSP00000438526:E300K	ENSP00000365469:E80K	E	-	1	0	KLHL35	74817303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.627000	0.83176	2.826000	0.97356	0.561000	0.74099	GAA		PASS	0.627	KLHL35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173583		4	88	4	88	---	---	---	---
LRRC32	2615	broad.mit.edu	37	11	76371468	76371468	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:76371468G>A	ENST00000407242.2	-	3	1411	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	LRRC32_ENST00000260061.5_Missense_Mutation_p.T390M|LRRC32_ENST00000404995.1_Missense_Mutation_p.T390M|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	390					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)		p.T390M(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TAGGAGCAGCGTCCGCAGAGA	0.647																																						uc001oxq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1168-1170)ACG>ATG		leucine rich repeat containing 32 precursor							18.0	21.0	20.0					11																	76371468		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371468G>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1169C>T	11.37:g.76371468G>A	ENSP00000384126:p.Thr390Met					LRRC32_uc001oxr.3_Missense_Mutation_p.T390M|LRRC32_uc010rsf.1_Missense_Mutation_p.T390M	p.T390M	NM_005512	NP_005503	Q14392	LRC32_HUMAN			3	1412	-			390			LRR 14.|Extracellular (Potential).		Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.1169C>T	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	G	1.896	-0.454251	0.04540	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.58358	0.34;0.34;0.34	4.27	1.22	0.21188	.	0.650704	0.16374	N	0.217197	T	0.34250	0.0891	L	0.41236	1.265	0.09310	N	1	B	0.24721	0.11	B	0.17098	0.017	T	0.11203	-1.0597	10	0.34782	T	0.22	.	2.0876	0.03650	0.1011:0.2521:0.3561:0.2908	.	390	Q14392	LRC32_HUMAN	M	390	ENSP00000260061:T390M;ENSP00000384126:T390M;ENSP00000385766:T390M	ENSP00000260061:T390M	T	-	2	0	LRRC32	76049116	0.001000	0.12720	0.205000	0.23548	0.285000	0.27093	1.065000	0.30592	1.024000	0.39682	0.491000	0.48974	ACG		PASS	0.647	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		8	42	8	42	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76885810	76885810	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:76885810C>A	ENST00000409709.3	+	17	2216	c.1944C>A	c.(1942-1944)gaC>gaA	p.D648E	MYO7A_ENST00000409893.1_Missense_Mutation_p.D648E|MYO7A_ENST00000458637.2_Missense_Mutation_p.D648E|MYO7A_ENST00000409619.2_Missense_Mutation_p.D637E	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	648	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.D648E(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGCTGTTCGACCGGCACCTGT	0.617																																						uc001oyb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1942-1944)GAC>GAA		myosin VIIA isoform 1							20.0	23.0	22.0					11																	76885810		2039	4179	6218	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76885810C>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1944C>A	11.37:g.76885810C>A	ENSP00000386331:p.Asp648Glu					MYO7A_uc010rsl.1_Missense_Mutation_p.D648E|MYO7A_uc010rsm.1_Missense_Mutation_p.D637E|MYO7A_uc001oyc.2_Missense_Mutation_p.D648E|MYO7A_uc001oyd.2_5'UTR	p.D648E	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			17	2216	+			648			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.1944C>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.752960	0.69648	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.21	4.3	0.51218	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.90703	0.7083	L	0.35644	1.08	0.58432	D	0.999995	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.91635	0.967;0.95;0.999	D	0.90815	0.4704	10	0.66056	D	0.02	.	11.4978	0.50419	0.0:0.8509:0.0:0.1491	.	648;648;648	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	E	648;648;648;637;647;647;524;647	ENSP00000386331:D648E;ENSP00000386689:D648E;ENSP00000392185:D648E;ENSP00000386635:D637E	ENSP00000345075:D524E	D	+	3	2	MYO7A	76563458	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	1.199000	0.32235	1.200000	0.43188	0.478000	0.44815	GAC		PASS	0.617	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		7	23	7	23	---	---	---	---
ALG8	79053	broad.mit.edu	37	11	77835150	77835150	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:77835150C>G	ENST00000299626.5	-	3	356	c.285G>C	c.(283-285)ttG>ttC	p.L95F	ALG8_ENST00000376156.3_Missense_Mutation_p.L95F|ALG8_ENST00000532552.2_Intron	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	95					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)	p.L95F(2)		NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TGGAGTAATTCAAATTATGGA	0.403																																						uc001oza.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)|pancreas(1)	3						c.(283-285)TTG>TTC		dolichyl pyrophosphate Glc1Man9GlcNAc2							118.0	122.0	121.0					11																	77835150		2200	4292	6492	SO:0001583	missense	79053				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr11:77835150C>G	AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	608103	"""asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.285G>C	11.37:g.77835150C>G	ENSP00000299626:p.Leu95Phe					ALG8_uc001oyz.1_Missense_Mutation_p.L95F|ALG8_uc009yux.1_5'UTR|ALG8_uc009yuy.1_RNA	p.L95F	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)		3	350	-	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		95					A6NDW6|O60860	Missense_Mutation	SNP	ENST00000299626.5	37	c.285G>C	CCDS8258.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445110	0.63178	.	.	ENSG00000159063	ENST00000299626;ENST00000376156;ENST00000525755;ENST00000530454;ENST00000525870;ENST00000527099;ENST00000530910;ENST00000525761	D;D;D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	6.01	4.11	0.48088	.	0.139665	0.49916	D	0.000122	D	0.92185	0.7522	M	0.88105	2.93	0.58432	D	0.999994	D;D	0.69078	0.997;0.996	D;D	0.77557	0.99;0.985	D	0.91543	0.5251	10	0.59425	D	0.04	-5.2707	9.3407	0.38079	0.0:0.6538:0.2743:0.0719	.	95;95	Q9BVK2;A6NDW6	ALG8_HUMAN;.	F	95;95;44;96;7;7;86;69	ENSP00000299626:L95F;ENSP00000365326:L95F;ENSP00000435467:L44F;ENSP00000434660:L96F;ENSP00000435417:L7F;ENSP00000436064:L7F;ENSP00000437033:L86F;ENSP00000431357:L69F	ENSP00000299626:L95F	L	-	3	2	ALG8	77512798	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	1.798000	0.38814	0.840000	0.34995	0.650000	0.86243	TTG		PASS	0.403	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390637.1	NM_024079		15	345	15	345	---	---	---	---
USP35	57558	broad.mit.edu	37	11	77907956	77907956	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:77907956C>T	ENST00000529308.1	+	2	926	c.665C>T	c.(664-666)tCc>tTc	p.S222F	USP35_ENST00000530535.1_Intron|USP35_ENST00000441408.2_5'UTR|USP35_ENST00000526425.1_5'Flank|USP35_ENST00000530267.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	222					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.S222F(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCAGTCATCTCCTGCGCAGGT	0.692																																						uc009yva.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(664-666)TCC>TTC		ubiquitin specific protease 35							4.0	5.0	5.0					11																	77907956		1895	3930	5825	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77907956C>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.665C>T	11.37:g.77907956C>T	ENSP00000431876:p.Ser222Phe					USP35_uc001oze.2_Intron|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_5'UTR|USP35_uc001ozf.2_5'Flank	p.S222F	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		2	911	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		222						Missense_Mutation	SNP	ENST00000529308.1	37	c.665C>T	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815291	0.50527	.	.	ENSG00000118369	ENST00000529308	T	0.63580	-0.05	4.97	4.05	0.47172	Armadillo-like helical (1);	0.000000	0.48767	D	0.000166	T	0.72606	0.3481	L	0.52573	1.65	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.75365	-0.3343	10	0.87932	D	0	-32.7273	12.7141	0.57105	0.0:0.9205:0.0:0.0795	.	222	Q9P2H5	UBP35_HUMAN	F	222	ENSP00000431876:S222F	ENSP00000431876:S222F	S	+	2	0	USP35	77585604	1.000000	0.71417	0.994000	0.49952	0.510000	0.34073	7.547000	0.82146	2.298000	0.77334	0.462000	0.41574	TCC		PASS	0.692	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		4	20	4	20	---	---	---	---
NARS2	79731	broad.mit.edu	37	11	78176982	78176982	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:78176982A>C	ENST00000281038.5	-	11	1479	c.1104T>G	c.(1102-1104)aaT>aaG	p.N368K	NARS2_ENST00000528850.1_Missense_Mutation_p.N141K	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	368					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)	p.N368K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TTAATGGATAATTAATAACGA	0.413																																						uc001ozi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1102-1104)AAT>AAG		asparaginyl-tRNA synthetase 2, mitochondrial	L-Asparagine(DB00174)						141.0	135.0	137.0					11																	78176982		2200	4292	6492	SO:0001583	missense	79731				asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr11:78176982A>C	BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.1104T>G	11.37:g.78176982A>C	ENSP00000281038:p.Asn368Lys					NARS2_uc010rsq.1_Missense_Mutation_p.N141K	p.N368K	NM_024678	NP_078954	Q96I59	SYNM_HUMAN			11	1480	-	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)		368					G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	c.1104T>G	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.607086	0.46527	.	.	ENSG00000137513	ENST00000281038;ENST00000528850;ENST00000529880	D;D;D	0.84800	-1.9;-1.9;-1.9	4.59	-0.278	0.12894	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.049133	0.85682	D	0.000000	D	0.82893	0.5136	L	0.50847	1.595	0.52099	D	0.99994	D	0.55172	0.97	P	0.51101	0.659	T	0.80439	-0.1382	10	0.87932	D	0	-16.5782	8.4896	0.33093	0.4473:0.0:0.5527:0.0	.	368	Q96I59	SYNM_HUMAN	K	368;141;224	ENSP00000281038:N368K;ENSP00000432635:N141K;ENSP00000432240:N224K	ENSP00000281038:N368K	N	-	3	2	NARS2	77854630	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	0.683000	0.25349	0.051000	0.15978	0.482000	0.46254	AAT		PASS	0.413	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		12	226	12	226	---	---	---	---
TENM4	26011	broad.mit.edu	37	11	78369130	78369130	+	Missense_Mutation	SNP	C	C	G	rs369408263		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:78369130C>G	ENST00000278550.7	-	34	8745	c.8283G>C	c.(8281-8283)atG>atC	p.M2761I		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2761					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.M2761I(2)									CGCTCTGTCTCATGAAGTGGA	0.537																																						uc001ozl.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)	4						c.(8281-8283)ATG>ATC		odz, odd Oz/ten-m homolog 4							243.0	252.0	249.0					11																	78369130		2108	4230	6338	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78369130C>G	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.8283G>C	11.37:g.78369130C>G	ENSP00000278550:p.Met2761Ile					ODZ4_uc001ozk.3_Missense_Mutation_p.M986I|ODZ4_uc009yvb.1_Intron	p.M2761I	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			34	8746	-			2761			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.8283G>C	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607976	0.46527	.	.	ENSG00000149256	ENST00000278550	D	0.89196	-2.48	5.52	5.52	0.82312	.	0.042876	0.85682	D	0.000000	D	0.83691	0.5309	L	0.29908	0.895	0.52501	D	0.999959	B	0.22480	0.07	B	0.19148	0.024	T	0.77482	-0.2571	9	.	.	.	.	19.6296	0.95694	0.0:1.0:0.0:0.0	.	2761	Q6N022	TEN4_HUMAN	I	2761	ENSP00000278550:M2761I	.	M	-	3	0	ODZ4	78046778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.708000	0.61859	2.873000	0.98535	0.563000	0.77884	ATG		PASS	0.537	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			81	732	81	732	---	---	---	---
CCDC89	220388	broad.mit.edu	37	11	85397140	85397140	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:85397140G>C	ENST00000316398.3	-	1	180	c.34C>G	c.(34-36)Ccc>Gcc	p.P12A		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	12						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P12A(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TCCATCCTGGGAGCCTGCTGT	0.522																																						uc001pau.1																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)CCC>GCC		coiled-coil domain containing 89							64.0	68.0	66.0					11																	85397140		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85397140G>C	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.34C>G	11.37:g.85397140G>C	ENSP00000320649:p.Pro12Ala						p.P12A	NM_152723	NP_689936	Q8N998	CCD89_HUMAN			1	181	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	12						Missense_Mutation	SNP	ENST00000316398.3	37	c.34C>G	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907849	0.33721	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.76	1.67	0.24075	.	1.234140	0.06410	U	0.720345	T	0.39036	0.1063	L	0.36672	1.1	0.09310	N	1	B	0.19706	0.038	B	0.18871	0.023	T	0.29212	-1.0019	8	.	.	.	1.7357	10.6806	0.45813	0.0697:0.3748:0.5554:0.0	.	12	Q8N998	CCD89_HUMAN	A	12	.	.	P	-	1	0	CCDC89	85074788	0.000000	0.05858	0.001000	0.08648	0.661000	0.39034	0.671000	0.25172	0.311000	0.23014	0.655000	0.94253	CCC		PASS	0.522	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		5	399	5	399	---	---	---	---
ME3	10873	broad.mit.edu	37	11	86158109	86158109	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:86158109C>T	ENST00000393324.3	-	11	1631	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000543262.1_Missense_Mutation_p.E460K|ME3_ENST00000359636.2_Missense_Mutation_p.E460K	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	460					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.E460K(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				CCGCTGACCTCGGTGACCCGG	0.562																																						uc001pbz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1378-1380)GAG>AAG		mitochondrial malic enzyme 3 precursor	NADH(DB00157)						57.0	50.0	52.0					11																	86158109		2202	4299	6501	SO:0001583	missense	10873				aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	g.chr11:86158109C>T	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1378G>A	11.37:g.86158109C>T	ENSP00000376998:p.Glu460Lys					ME3_uc001pca.2_Missense_Mutation_p.E460K|ME3_uc009yvk.2_Missense_Mutation_p.E460K	p.E460K	NM_001014811	NP_001014811	Q16798	MAON_HUMAN			11	1632	-		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)	460					B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	c.1378G>A	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038920	0.35989	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.23	4.29	0.51040	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.045244	0.85682	D	0.000000	T	0.28632	0.0709	N	0.17674	0.51	0.80722	D	1	B	0.18013	0.025	B	0.15484	0.013	T	0.04413	-1.0953	9	.	.	.	-28.0835	15.6055	0.76668	0.0:0.7404:0.2596:0.0	.	460	Q16798	MAON_HUMAN	K	460	ENSP00000352657:E460K;ENSP00000440246:E460K;ENSP00000376998:E460K;ENSP00000431182:E460K	.	E	-	1	0	ME3	85835757	1.000000	0.71417	0.958000	0.39756	0.943000	0.58893	4.707000	0.61852	1.270000	0.44297	0.650000	0.86243	GAG		PASS	0.562	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			7	158	7	158	---	---	---	---
TMEM135	65084	broad.mit.edu	37	11	87024486	87024486	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:87024486G>T	ENST00000305494.5	+	11	995	c.956G>T	c.(955-957)cGc>cTc	p.R319L	TMEM135_ENST00000340353.7_Missense_Mutation_p.R297L|TMEM135_ENST00000532959.1_Missense_Mutation_p.R190L|TMEM135_ENST00000535167.1_Missense_Mutation_p.R180L	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	319					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)		p.R319L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGCTTCCTGCGCTGGATCAGA	0.294																																						uc001pch.2																			1	Substitution - Missense(1)		lung(1)		0						c.(955-957)CGC>CTC		transmembrane protein 135							94.0	97.0	96.0					11																	87024486		2201	4297	6498	SO:0001583	missense	65084					integral to membrane		g.chr11:87024486G>T	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.956G>T	11.37:g.87024486G>T	ENSP00000306344:p.Arg319Leu					TMEM135_uc010rtt.1_Missense_Mutation_p.R180L|TMEM135_uc001pci.2_Missense_Mutation_p.R297L	p.R319L	NM_022918	NP_075069	Q86UB9	TM135_HUMAN			11	979	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	319					Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	ENST00000305494.5	37	c.956G>T	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872572	0.91587	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.75503	0.3858	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.986;0.993	T	0.77528	-0.2554	9	.	.	.	-12.854	18.3398	0.90302	0.0:0.0:1.0:0.0	.	297;319	Q86UB9-2;Q86UB9	.;TM135_HUMAN	L	297;156;190;319;180	ENSP00000345513:R297L;ENSP00000436179:R190L;ENSP00000306344:R319L;ENSP00000439525:R180L	.	R	+	2	0	TMEM135	86702134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.066000	0.93949	2.579000	0.87056	0.655000	0.94253	CGC		PASS	0.294	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918		69	325	69	325	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88780474	88780474	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:88780474C>T	ENST00000305447.4	-	1	716	c.567G>A	c.(565-567)atG>atA	p.M189I	GRM5_ENST00000305432.5_Missense_Mutation_p.M189I|GRM5_ENST00000393297.1_Missense_Mutation_p.M189I|GRM5_ENST00000455756.2_Missense_Mutation_p.M189I|GRM5_ENST00000393294.3_Missense_Mutation_p.M189I|GRM5_ENST00000418177.2_Missense_Mutation_p.M189I	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	189					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.M189I(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GCACAACCCTCATGAAATATT	0.468																																						uc001pcq.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(565-567)ATG>ATA		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						88.0	76.0	80.0					11																	88780474		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780474C>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.567G>A	11.37:g.88780474C>T	ENSP00000306138:p.Met189Ile					GRM5_uc009yvm.2_Missense_Mutation_p.M189I|GRM5_uc009yvn.1_Missense_Mutation_p.M189I	p.M189I	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			1	767	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	189			Extracellular (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.567G>A	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018706	0.75275	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89301	0.6676	L	0.41824	1.3	0.58432	D	0.999999	P;P;D	0.54964	0.599;0.955;0.969	B;P;D	0.70227	0.374;0.84;0.968	D	0.87823	0.2639	9	.	.	.	.	19.1788	0.93614	0.0:1.0:0.0:0.0	.	189;189;189	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	I	189	ENSP00000402912:M189I;ENSP00000405690:M189I;ENSP00000305905:M189I;ENSP00000306138:M189I;ENSP00000376975:M189I;ENSP00000376972:M189I	.	M	-	3	0	GRM5	88420122	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.768000	0.62293	2.514000	0.84764	0.563000	0.77884	ATG		PASS	0.468	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		14	326	14	326	---	---	---	---
MTNR1B	4544	broad.mit.edu	37	11	92714695	92714695	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:92714695C>A	ENST00000257068.2	+	2	312	c.306C>A	c.(304-306)ttC>ttA	p.F102L		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	102					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.F102L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TGGCCATCTTCTATGACGGCT	0.572																																						uc001pdk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(304-306)TTC>TTA		melatonin receptor 1B	Ramelteon(DB00980)						187.0	183.0	185.0					11																	92714695		2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92714695C>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.306C>A	11.37:g.92714695C>A	ENSP00000257068:p.Phe102Leu						p.F102L	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	409	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	102			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000257068.2	37	c.306C>A	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767440	0.31320	.	.	ENSG00000134640	ENST00000257068	T	0.69040	-0.37	3.97	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	0.185086	0.47852	N	0.000202	T	0.41880	0.1178	N	0.12611	0.24	0.51233	D	0.999911	B	0.06786	0.001	B	0.13407	0.009	T	0.33954	-0.9848	10	0.02654	T	1	-23.9774	11.7961	0.52100	0.0:0.9135:0.0:0.0865	.	102	P49286	MTR1B_HUMAN	L	102	ENSP00000257068:F102L	ENSP00000257068:F102L	F	+	3	2	MTNR1B	92354343	1.000000	0.71417	0.819000	0.32651	0.749000	0.42624	2.031000	0.41117	1.015000	0.39444	0.491000	0.48974	TTC		PASS	0.572	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			106	311	106	311	---	---	---	---
ENDOD1	23052	broad.mit.edu	37	11	94862660	94862660	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:94862660C>G	ENST00000278505.4	+	2	1538	c.1420C>G	c.(1420-1422)Ctg>Gtg	p.L474V		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	474						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.L474V(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TTTTGGTACCCTGGGTGGCCT	0.463																																						uc001pfh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1420-1422)CTG>GTG		endonuclease domain containing 1 precursor							172.0	163.0	166.0					11																	94862660		1967	4157	6124	SO:0001583	missense	23052					extracellular region	endonuclease activity|metal ion binding|nucleic acid binding	g.chr11:94862660C>G	BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.1420C>G	11.37:g.94862660C>G	ENSP00000278505:p.Leu474Val						p.L474V	NM_015036	NP_055851	O94919	ENDD1_HUMAN			2	1495	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)	474					A8K6K8|Q6GQY5|Q8TAQ8	Missense_Mutation	SNP	ENST00000278505.4	37	c.1420C>G	CCDS41699.1	.	.	.	.	.	.	.	.	.	.	C	6.166	0.398777	0.11696	.	.	ENSG00000149218	ENST00000278505	T	0.35421	1.31	5.97	-3.01	0.05463	.	0.652152	0.15712	N	0.248377	T	0.10766	0.0263	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18840	-1.0324	10	0.20046	T	0.44	-16.2736	2.3873	0.04369	0.2191:0.2236:0.3817:0.1756	.	474	O94919	ENDD1_HUMAN	V	474	ENSP00000278505:L474V	ENSP00000278505:L474V	L	+	1	2	ENDOD1	94502308	0.000000	0.05858	0.611000	0.29010	0.579000	0.36224	-0.442000	0.06871	-0.417000	0.07461	-1.121000	0.02013	CTG		PASS	0.463	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396545.1	NM_015036		31	204	31	204	---	---	---	---
SIK2	23235	broad.mit.edu	37	11	111597721	111597721	+	3'UTR	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:111597721C>T	ENST00000304987.3	+	0	5822				PPP2R1B_ENST00000311129.5_Missense_Mutation_p.E658K|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.E594K|PPP2R1B_ENST00000530787.1_5'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2						insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.E658K(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TGCACTAGCTCTGCAATTCCC	0.443																																						uc001plw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1972-1974)GAG>AAG		beta isoform of regulatory subunit A, protein							127.0	117.0	120.0					11																	111597721		2201	4297	6498	SO:0001624	3_prime_UTR_variant	5519						protein binding	g.chr11:111597721C>T	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.*2868C>T	11.37:g.111597721C>T						uc001plu.1_5'Flank|PPP2R1B_uc009yye.1_RNA|PPP2R1B_uc010rwi.1_Missense_Mutation_p.E594K	p.E658K	NM_181699	NP_859050	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	16	2056	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	Error:Variant_position_missing_in_P30154_after_alignment					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.1972G>A	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483518	0.44147	.	.	ENSG00000137713	ENST00000311129;ENST00000426998	.	.	.	5.5	-0.0941	0.13646	.	0.534675	0.17957	N	0.156321	T	0.14098	0.0341	N	0.08118	0	0.09310	N	0.999992	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.11591	-1.0581	9	0.48119	T	0.1	-2.8625	1.6948	0.02859	0.1303:0.3961:0.2501:0.2236	.	594;658	B4DWW5;P30154-2	.;.	K	658;594	.	ENSP00000311344:E658K	E	-	1	0	PPP2R1B	111102931	1.000000	0.71417	0.514000	0.27761	0.955000	0.61496	0.622000	0.24433	0.104000	0.17725	0.555000	0.69702	GAG		PASS	0.443	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		45	55	45	55	---	---	---	---
FDXACB1	91893	broad.mit.edu	37	11	111746170	111746170	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:111746170G>T	ENST00000260257.4	-	5	1398	c.1351C>A	c.(1351-1353)Cgt>Agt	p.R451S	FDXACB1_ENST00000542429.1_Missense_Mutation_p.R302S|ALG9_ENST00000527377.1_Intron|ALG9_ENST00000524880.1_Intron	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	451					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)	p.R451S(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						GTCTTCACACGAATCATATAA	0.398																																						uc001pmc.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1351-1353)CGT>AGT		ferredoxin-fold anticodon binding domain							93.0	90.0	91.0					11																	111746170		1875	4120	5995	SO:0001583	missense	91893				phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr11:111746170G>T		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.1351C>A	11.37:g.111746170G>T	ENSP00000260257:p.Arg451Ser					ALG9_uc010rwo.1_Intron|FDXACB1_uc009yyi.2_Missense_Mutation_p.R302S	p.R451S	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN			5	1648	-			451					A0PJW7|B4DUU2	Missense_Mutation	SNP	ENST00000260257.4	37	c.1351C>A	CCDS44729.1	.	.	.	.	.	.	.	.	.	.	G	2.409	-0.335871	0.05278	.	.	ENSG00000255561	ENST00000260257;ENST00000542429;ENST00000528274	T;T;T	0.71579	0.42;-0.58;0.97	5.86	-11.4	0.00090	.	1.558040	0.02843	N	0.128215	T	0.41236	0.1150	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14337	-1.0476	10	0.21540	T	0.41	.	6.2237	0.20695	0.4015:0.0:0.2989:0.2996	.	451	Q9BRP7	FDXA1_HUMAN	S	451;302;362	ENSP00000260257:R451S;ENSP00000441304:R302S;ENSP00000435572:R362S	ENSP00000260257:R451S	R	-	1	0	FDXACB1	111251380	0.067000	0.21026	0.000000	0.03702	0.223000	0.24884	0.268000	0.18571	-1.937000	0.01047	-1.044000	0.02363	CGT		PASS	0.398	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378		61	108	61	108	---	---	---	---
PIH1D2	120379	broad.mit.edu	37	11	111942410	111942410	+	Missense_Mutation	SNP	G	G	C	rs371320738		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:111942410G>C	ENST00000280350.4	-	3	472	c.250C>G	c.(250-252)Cat>Gat	p.H84D	PIH1D2_ENST00000532211.1_Missense_Mutation_p.H84D|C11orf57_ENST00000532163.1_5'Flank|PIH1D2_ENST00000530641.1_Missense_Mutation_p.H84D|C11orf57_ENST00000393047.3_5'Flank|C11orf57_ENST00000530104.1_5'Flank|PIH1D2_ENST00000521853.2_5'UTR|C11orf57_ENST00000420986.2_5'Flank|PIH1D2_ENST00000528775.1_Missense_Mutation_p.H84D|PIH1D2_ENST00000431456.1_Missense_Mutation_p.H84D|C11orf57_ENST00000280352.9_5'Flank	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	84								p.H84D(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		GGTACTGGATGAGTGGTTGAT	0.368																																						uc001pmq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(250-252)CAT>GAT		PIH1 domain containing 2 isoform 1							153.0	149.0	150.0					11																	111942410		2201	4297	6498	SO:0001583	missense	120379							g.chr11:111942410G>C	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.250C>G	11.37:g.111942410G>C	ENSP00000280350:p.His84Asp					PIH1D2_uc009yyl.2_Missense_Mutation_p.H84D|PIH1D2_uc001pmp.3_Missense_Mutation_p.H84D|PIH1D2_uc010rws.1_Missense_Mutation_p.H84D|C11orf57_uc001pmu.2_5'Flank|C11orf57_uc001pmw.3_5'Flank|C11orf57_uc001pmt.3_5'Flank|C11orf57_uc001pmr.3_5'Flank|C11orf57_uc001pmv.3_5'Flank|C11orf57_uc001pms.3_5'Flank	p.H84D	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	3	332	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	84					B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	37	c.250C>G	CCDS8355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.160|9.160	1.018411|1.018411	0.19355|0.19355	.|.	.|.	ENSG00000150773|ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744|ENST00000525072	T;T;T;T;T;T|.	0.16897|.	2.31;2.31;2.31;2.31;2.31;2.31|.	5.17|5.17	4.23|4.23	0.50019|0.50019	.|.	0.939841|.	0.09126|.	N|.	0.845094|.	T|.	0.44477|.	0.1295|.	L|L	0.38531|0.38531	1.155|1.155	0.29842|0.29842	N|N	0.829162|0.829162	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.09377|.	0.004;0.004;0.004|.	T|.	0.35051|.	-0.9804|.	10|.	0.31617|.	T|.	0.26|.	-5.9609|-5.9609	11.2785|11.2785	0.49180|0.49180	0.0:0.2524:0.7476:0.0|0.0:0.2524:0.7476:0.0	.|.	84;84;84|.	B4DU48;E9PD82;Q8WWB5|.	.;.;PIHD2_HUMAN|.	D|X	84;84;84;84;84;49|56	ENSP00000434275:H84D;ENSP00000388209:H84D;ENSP00000431841:H84D;ENSP00000280350:H84D;ENSP00000431147:H84D;ENSP00000433297:H49D|.	ENSP00000280350:H84D|.	H|S	-|-	1|2	0|0	PIH1D2|PIH1D2	111447620|111447620	0.998000|0.998000	0.40836|0.40836	0.987000|0.987000	0.45799|0.45799	0.900000|0.900000	0.52787|0.52787	1.721000|1.721000	0.38032|0.38032	2.695000|2.695000	0.91970|0.91970	0.561000|0.561000	0.74099|0.74099	CAT|TCA		PASS	0.368	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		8	186	8	186	---	---	---	---
UBE4A	9354	broad.mit.edu	37	11	118267127	118267127	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:118267127G>A	ENST00000431736.2	+	20	3266	c.3194G>A	c.(3193-3195)aGg>aAg	p.R1065K	UBE4A_ENST00000252108.3_Missense_Mutation_p.R1058K|RP11-770J1.5_ENST00000531742.1_5'Flank|UBE4A_ENST00000545354.1_Missense_Mutation_p.R530K					ubiquitination factor E4A									p.R1065K(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CTTGCAGAGAGGAAACAACAA	0.433																																						uc001psw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5						c.(3172-3174)AGG>AAG		ubiquitination factor E4A							85.0	82.0	83.0					11																	118267127		2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118267127G>A	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.3194G>A	11.37:g.118267127G>A	ENSP00000387362:p.Arg1065Lys					UBE4A_uc001psv.2_Missense_Mutation_p.R1065K	p.R1058K	NM_004788	NP_004779	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	20	3302	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	1058						Missense_Mutation	SNP	ENST00000431736.2	37	c.3173G>A	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632671	0.29068	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T	0.38240	1.17;1.15	5.24	5.24	0.73138	U box domain (1);	0.056779	0.64402	D	0.000001	T	0.15349	0.0370	N	0.01705	-0.755	0.47698	D	0.999497	B;B	0.20550	0.046;0.023	B;B	0.18561	0.022;0.01	T	0.19745	-1.0296	10	0.02654	T	1	-8.5447	18.8477	0.92213	0.0:0.0:1.0:0.0	.	1058;1065	Q14139;Q14139-2	UBE4A_HUMAN;.	K	1058;1065;530	ENSP00000252108:R1058K;ENSP00000387362:R1065K	ENSP00000252108:R1058K	R	+	2	0	UBE4A	117772337	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.372000	0.79612	2.439000	0.82584	0.650000	0.86243	AGG		PASS	0.433	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		17	123	17	123	---	---	---	---
H2AFX	3014	broad.mit.edu	37	11	118965713	118965713	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:118965713G>A	ENST00000530167.1	-	1	464	c.392C>T	c.(391-393)tCg>tTg	p.S131L		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	131					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|nucleosome assembly (GO:0006334)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)	p.S131L(1)		lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CTTGCCGCCCGAGGGCGCCTT	0.711								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pvg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)TCG>TTG	Chromatin_Structure|Direct_reversal_of_damage	H2A histone family, member X							30.0	34.0	32.0					11																	118965713		2198	4291	6489	SO:0001583	missense	3014				DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding	g.chr11:118965713G>A	X14850	CCDS8410.1	11q23.3	2011-01-27						"""Histones / Replication-independent"""	4739	protein-coding gene	gene with protein product		601772		H2AX		8076949	Standard	NM_002105		Approved		uc001pvg.3	P16104		ENST00000530167.1:c.392C>T	11.37:g.118965713G>A	ENSP00000434024:p.Ser131Leu		OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	H2AFX_uc001pvh.1_RNA	p.S131L	NM_002105	NP_002096	P16104	H2AX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)	1	465	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	131					Q4ZGJ7|Q6IAS5	Missense_Mutation	SNP	ENST00000530167.1	37	c.392C>T	CCDS8410.1	.	.	.	.	.	.	.	.	.	.	g	9.246	1.039599	0.19669	.	.	ENSG00000188486	ENST00000530167;ENST00000375167	D;D	0.90385	-2.66;-2.66	4.71	2.66	0.31614	.	0.748628	0.11478	N	0.560016	D	0.82678	0.5089	L	0.27053	0.805	0.23765	N	0.996907	B	0.15473	0.013	B	0.08055	0.003	T	0.71262	-0.4645	10	0.39692	T	0.17	.	7.3195	0.26519	0.0:0.1874:0.6187:0.1939	.	131	P16104	H2AX_HUMAN	L	131	ENSP00000434024:S131L;ENSP00000364310:S131L	ENSP00000364310:S131L	S	-	2	0	H2AFX	118470923	0.033000	0.19621	0.570000	0.28473	0.002000	0.02628	1.410000	0.34691	1.316000	0.45131	-0.322000	0.08575	TCG		PASS	0.711	H2AFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388330.2	NM_002105		12	54	12	54	---	---	---	---
OR8D2	283160	broad.mit.edu	37	11	124189674	124189674	+	Silent	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:124189674G>T	ENST00000357438.2	-	1	510	c.420C>A	c.(418-420)gtC>gtA	p.V140V		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V140V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TTATGGAACAGACCCTGTGGG	0.468																																						uc010sah.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)|pancreas(1)	3						c.(418-420)GTC>GTA		olfactory receptor, family 8, subfamily D,							95.0	87.0	90.0					11																	124189674		2201	4299	6500	SO:0001819	synonymous_variant	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189674G>T	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.420C>A	11.37:g.124189674G>T							p.V140V	NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	420	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	140			Helical; Name=4; (Potential).		B9EH49|Q6IFR0	Silent	SNP	ENST00000357438.2	37	c.420C>A	CCDS31707.1																																																																																				PASS	0.468	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		30	70	30	70	---	---	---	---
OR8B12	219858	broad.mit.edu	37	11	124412888	124412888	+	Silent	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:124412888G>T	ENST00000306842.2	-	1	687	c.663C>A	c.(661-663)ctC>ctA	p.L221L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L221L(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GAATGCTGGAGAGGATGAGGG	0.438																																						uc010sam.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(661-663)CTC>CTA		olfactory receptor, family 8, subfamily B,							86.0	74.0	78.0					11																	124412888		2201	4299	6500	SO:0001819	synonymous_variant	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124412888G>T		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.663C>A	11.37:g.124412888G>T							p.L221L	NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	663	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	221			Cytoplasmic (Potential).		B2RNF6|Q6IEW8|Q96RC7	Silent	SNP	ENST00000306842.2	37	c.663C>A	CCDS31711.1																																																																																				PASS	0.438	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			18	39	18	39	---	---	---	---
ESAM	90952	broad.mit.edu	37	11	124623562	124623562	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:124623562G>C	ENST00000278927.5	-	7	1282	c.1153C>G	c.(1153-1155)Caa>Gaa	p.Q385E	VSIG2_ENST00000326621.5_5'Flank|ESAM_ENST00000442070.2_Intron|VSIG2_ENST00000403470.1_5'Flank	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	385					blood coagulation (GO:0007596)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)|single organismal cell-cell adhesion (GO:0016337)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.Q385E(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		GAGCCAGCTTGACTCTGGGCA	0.572																																						uc001qav.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1153-1155)CAA>GAA		endothelial cell adhesion molecule precursor							50.0	52.0	51.0					11																	124623562		2201	4299	6500	SO:0001583	missense	90952				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction		g.chr11:124623562G>C	AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17474	protein-coding gene	gene with protein product		614281				11279107, 11906820	Standard	NM_138961		Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.1153C>G	11.37:g.124623562G>C	ENSP00000278927:p.Gln385Glu					VSIG2_uc001qas.2_5'Flank|VSIG2_uc001qat.2_5'Flank|ESAM_uc010sao.1_Intron|ESAM_uc001qau.3_Missense_Mutation_p.Q312E|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_3'UTR	p.Q385E	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)	7	1326	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	385			Cytoplasmic (Potential).		B4DVN8|Q96T50	Missense_Mutation	SNP	ENST00000278927.5	37	c.1153C>G	CCDS8453.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445220	0.83993	.	.	ENSG00000149564	ENST00000278927	T	0.35789	1.29	5.39	5.39	0.77823	.	0.128800	0.53938	D	0.000048	T	0.49047	0.1534	L	0.55481	1.735	0.80722	D	1	D	0.67145	0.996	P	0.54759	0.76	T	0.47182	-0.9137	10	0.59425	D	0.04	.	16.4213	0.83759	0.0:0.0:1.0:0.0	.	385	Q96AP7	ESAM_HUMAN	E	385	ENSP00000278927:Q385E	ENSP00000278927:Q385E	Q	-	1	0	ESAM	124128772	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.881000	0.75584	2.671000	0.90904	0.655000	0.94253	CAA		PASS	0.572	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324686.1	NM_138961		28	52	28	52	---	---	---	---
CDON	50937	broad.mit.edu	37	11	125867216	125867216	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:125867216G>C	ENST00000392693.3	-	12	2375	c.2248C>G	c.(2248-2250)Cca>Gca	p.P750A	CDON_ENST00000531738.1_Missense_Mutation_p.P127A|CDON_ENST00000263577.7_Missense_Mutation_p.P750A	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	750	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P750A(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GCAGTGATTGGAGAACCCCCG	0.507																																						uc009zbw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|breast(1)	6						c.(2248-2250)CCA>GCA		surface glycoprotein, Ig superfamily member							113.0	89.0	97.0					11																	125867216		2201	4299	6500	SO:0001583	missense	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125867216G>C	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2248C>G	11.37:g.125867216G>C	ENSP00000376458:p.Pro750Ala					CDON_uc001qdb.3_Missense_Mutation_p.P127A|CDON_uc001qdc.3_Missense_Mutation_p.P750A	p.P750A	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	12	2376	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	750			Fibronectin type-III 2.|Extracellular (Potential).		O14631	Missense_Mutation	SNP	ENST00000392693.3	37	c.2248C>G	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831747	0.91036	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.59083	0.29;0.29;0.29	5.67	5.67	0.87782	Fibronectin, type III (4);	0.000000	0.53938	D	0.000058	T	0.77698	0.4169	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.78758	-0.2079	10	0.66056	D	0.02	-15.282	19.7699	0.96359	0.0:0.0:1.0:0.0	.	750;750;127	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	A	750;127;750	ENSP00000376458:P750A;ENSP00000432901:P127A;ENSP00000263577:P750A	ENSP00000263577:P750A	P	-	1	0	CDON	125372426	1.000000	0.71417	0.975000	0.42487	0.934000	0.57294	9.414000	0.97362	2.680000	0.91292	0.563000	0.77884	CCA		PASS	0.507	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		51	49	51	49	---	---	---	---
PRDM10	56980	broad.mit.edu	37	11	129787090	129787090	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr11:129787090C>T	ENST00000360871.3	-	15	2488	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K	PRDM10_ENST00000358825.5_Missense_Mutation_p.E757K|PRDM10_ENST00000304538.6_Missense_Mutation_p.E667K|PRDM10_ENST00000528746.1_Missense_Mutation_p.E727K|PRDM10_ENST00000526082.1_Missense_Mutation_p.E671K|PRDM10_ENST00000423662.2_Missense_Mutation_p.E671K	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	757					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.E753K(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TCTGGCACCTCTTCTATCTTC	0.383																																						uc001qfm.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2269-2271)GAG>AAG		PR domain containing 10 isoform 1							215.0	192.0	200.0					11																	129787090		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129787090C>T	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2257G>A	11.37:g.129787090C>T	ENSP00000354118:p.Glu753Lys					PRDM10_uc001qfj.2_Missense_Mutation_p.E671K|PRDM10_uc001qfk.2_Missense_Mutation_p.E667K|PRDM10_uc001qfl.2_Missense_Mutation_p.E671K|PRDM10_uc010sbx.1_Missense_Mutation_p.E667K|PRDM10_uc001qfn.2_Missense_Mutation_p.E753K|PRDM10_uc009zcs.1_5'Flank	p.E757K	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	16	2501	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	757					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.2269G>A	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074232	0.94000	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.10573	2.88;2.89;2.88;2.86;2.93;2.87;2.97	5.52	5.52	0.82312	.	0.107759	0.64402	D	0.000006	T	0.18841	0.0452	L	0.36672	1.1	0.80722	D	1	P;D;P;D;P;D	0.55605	0.953;0.972;0.953;0.972;0.898;0.972	P;P;P;P;B;P	0.53912	0.551;0.737;0.551;0.737;0.352;0.737	T	0.01266	-1.1401	10	0.25751	T	0.34	-42.1688	19.4505	0.94865	0.0:1.0:0.0:0.0	.	667;753;757;671;667;671	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	K	757;667;753;671;727;671;470	ENSP00000351686:E757K;ENSP00000302669:E667K;ENSP00000354118:E753K;ENSP00000398431:E671K;ENSP00000431262:E727K;ENSP00000432237:E671K;ENSP00000435940:E470K	ENSP00000302669:E667K	E	-	1	0	PRDM10	129292300	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	7.461000	0.80834	2.597000	0.87782	0.655000	0.94253	GAG		PASS	0.383	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		79	100	79	100	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	968625	968625	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:968625G>A	ENST00000315939.6	+	6	2258	c.1615G>A	c.(1615-1617)Gaa>Aaa	p.E539K	WNK1_ENST00000535572.1_Missense_Mutation_p.E539K|WNK1_ENST00000537687.1_Missense_Mutation_p.E539K|WNK1_ENST00000340908.4_Missense_Mutation_p.E132K|WNK1_ENST00000530271.2_Missense_Mutation_p.E539K|WNK1_ENST00000540360.1_3'UTR	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	539					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.E539K(2)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGTTGCACAAGAAATGGTAAA	0.294																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			2	Substitution - Missense(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(1615-1617)GAA>AAA		WNK lysine deficient protein kinase 1							60.0	70.0	67.0					12																	968625		2198	4293	6491	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:968625G>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1615G>A	12.37:g.968625G>A	ENSP00000313059:p.Glu539Lys					WNK1_uc001qip.3_Missense_Mutation_p.E539K|WNK1_uc001qir.3_5'Flank	p.E539K	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		6	2122	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		539					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.1615G>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	36	5.668700	0.96754	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000530271;ENST00000340908	T;T;T;T;T	0.73897	-0.71;-0.79;-0.67;-0.73;-0.38	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000002	D	0.88347	0.6412	M	0.85197	2.74	0.54753	D	0.999986	D;D	0.76494	0.999;0.997	D;D	0.79108	0.992;0.982	D	0.89443	0.3725	10	0.87932	D	0	-16.4044	19.82	0.96590	0.0:0.0:1.0:0.0	.	539;539	F5GWT4;Q9H4A3	.;WNK1_HUMAN	K	539;539;539;539;132	ENSP00000441972:E539K;ENSP00000313059:E539K;ENSP00000444465:E539K;ENSP00000433548:E539K;ENSP00000341292:E132K	ENSP00000313059:E539K	E	+	1	0	WNK1	838886	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.874000	0.87199	2.660000	0.90430	0.591000	0.81541	GAA		PASS	0.294	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		95	218	95	218	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	993358	993358	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:993358G>A	ENST00000315939.6	+	18	4436	c.3793G>A	c.(3793-3795)Gaa>Aaa	p.E1265K	WNK1_ENST00000535572.1_Missense_Mutation_p.E1018K|WNK1_ENST00000537687.1_Missense_Mutation_p.E1525K|WNK1_ENST00000340908.4_Missense_Mutation_p.E858K|WNK1_ENST00000530271.2_Missense_Mutation_p.E1763K	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1265					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.E1265K(1)|p.E1525K(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCCTGTGCCAGAAAGCCGATT	0.408																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			2	Substitution - Missense(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(3793-3795)GAA>AAA		WNK lysine deficient protein kinase 1							125.0	127.0	126.0					12																	993358		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:993358G>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.3793G>A	12.37:g.993358G>A	ENSP00000313059:p.Glu1265Lys					WNK1_uc001qip.3_Missense_Mutation_p.E1018K|WNK1_uc001qir.3_Missense_Mutation_p.E438K	p.E1265K	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		18	4300	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1265					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.3793G>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563269	0.86335	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908;ENST00000534872	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000002	T	0.54287	0.1849	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.997;0.994	T	0.53358	-0.8450	10	0.87932	D	0	-18.8368	20.3495	0.98807	0.0:0.0:1.0:0.0	.	1018;1018;1265	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	K	1018;1265;1525;438;1763;858;165	ENSP00000441972:E1018K;ENSP00000313059:E1265K;ENSP00000444465:E1525K;ENSP00000433548:E1763K;ENSP00000341292:E858K;ENSP00000446253:E165K	ENSP00000252477:E438K	E	+	1	0	WNK1	863619	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.180000	0.94867	2.814000	0.96858	0.591000	0.81541	GAA		PASS	0.408	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		31	396	31	396	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	994443	994443	+	Silent	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:994443A>G	ENST00000315939.6	+	19	5116	c.4473A>G	c.(4471-4473)tcA>tcG	p.S1491S	WNK1_ENST00000535572.1_Silent_p.S1244S|WNK1_ENST00000537687.1_Silent_p.S1751S|WNK1_ENST00000340908.4_Silent_p.S1084S|WNK1_ENST00000530271.2_Silent_p.S1989S	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1491					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.S1751S(1)|p.S1491S(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CATTAACATCAGTTTCTACCA	0.517																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			2	Substitution - coding silent(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(4471-4473)TCA>TCG		WNK lysine deficient protein kinase 1							143.0	131.0	135.0					12																	994443		2203	4300	6503	SO:0001819	synonymous_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994443A>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4473A>G	12.37:g.994443A>G						WNK1_uc001qip.3_Silent_p.S1244S|WNK1_uc001qir.3_Silent_p.S664S	p.S1491S	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	4980	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1491					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	c.4473A>G	CCDS8506.1																																																																																				PASS	0.517	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		16	438	16	438	---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	1987508	1987508	+	Silent	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:1987508G>T	ENST00000382722.5	-	16	2054	c.1692C>A	c.(1690-1692)atC>atA	p.I564I	CACNA2D4_ENST00000585708.1_Silent_p.I500I|CACNA2D4_ENST00000585732.1_Silent_p.I449I|CACNA2D4_ENST00000586184.1_Silent_p.I564I|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000588077.1_Silent_p.I500I	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	564	Cache.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.I564I(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GATGGGAGAGGATGTAGCCAT	0.527																																					Colon(2;101 179 21030 23310 28141)	uc001qjp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1690-1692)ATC>ATA		voltage-gated calcium channel alpha(2)delta-4							65.0	72.0	70.0					12																	1987508		2050	4188	6238	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1987508G>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1692C>A	12.37:g.1987508G>T						CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Silent_p.I452I	p.I564I	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	16	1923	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	564			Cache.|Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.1692C>A	CCDS44785.1																																																																																				PASS	0.527	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			14	9	14	9	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2786995	2786995	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:2786995G>C	ENST00000347598.4	+	43	5197	c.5197G>C	c.(5197-5199)Gag>Cag	p.E1733Q	CACNA1C_ENST00000399634.1_Missense_Mutation_p.E1685Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1685Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E1685Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1704Q|CACNA1C_ENST00000399655.1_Missense_Mutation_p.E1685Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1685Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1693Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E1685Q|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1704Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1693Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1704Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1691Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1685Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E1685Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1705Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E1710Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E1713Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1685Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E1726Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1685Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1702Q	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1733					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E1685Q(1)|p.E1763Q(1)|p.E1726Q(1)|p.E1733Q(1)|p.E1220Q(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCCATGAAGGAGGCTGTGTC	0.587																																						uc009zdu.1																			5	Substitution - Missense(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(5197-5199)GAG>CAG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						58.0	67.0	64.0					12																	2786995		2127	4241	6368	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2786995G>C	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5197G>C	12.37:g.2786995G>C	ENSP00000266376:p.Glu1733Gln					CACNA1C_uc009zdv.1_Missense_Mutation_p.E1682Q|CACNA1C_uc001qkb.2_Missense_Mutation_p.E1685Q|CACNA1C_uc001qkc.2_Missense_Mutation_p.E1704Q|CACNA1C_uc001qke.2_Missense_Mutation_p.E1674Q|CACNA1C_uc001qkf.2_Missense_Mutation_p.E1693Q|CACNA1C_uc001qjz.2_Missense_Mutation_p.E1685Q|CACNA1C_uc001qkd.2_Missense_Mutation_p.E1704Q|CACNA1C_uc001qkg.2_Missense_Mutation_p.E1691Q|CACNA1C_uc009zdw.1_Missense_Mutation_p.E1726Q|CACNA1C_uc001qkh.2_Missense_Mutation_p.E1693Q|CACNA1C_uc001qkl.2_Missense_Mutation_p.E1733Q|CACNA1C_uc001qkn.2_Missense_Mutation_p.E1685Q|CACNA1C_uc001qko.2_Missense_Mutation_p.E1705Q|CACNA1C_uc001qkp.2_Missense_Mutation_p.E1685Q|CACNA1C_uc001qkr.2_Missense_Mutation_p.E1702Q|CACNA1C_uc001qku.2_Missense_Mutation_p.E1685Q|CACNA1C_uc001qkq.2_Missense_Mutation_p.E1713Q|CACNA1C_uc001qks.2_Missense_Mutation_p.E1685Q|CACNA1C_uc001qkt.2_Missense_Mutation_p.E1704Q|CACNA1C_uc001qki.1_Missense_Mutation_p.E1421Q|CACNA1C_uc001qkj.1_Missense_Mutation_p.E1421Q|CACNA1C_uc001qkk.1_Missense_Mutation_p.E1421Q|CACNA1C_uc001qkm.1_Missense_Mutation_p.E1410Q|CACNA1C_uc010sea.1_Missense_Mutation_p.E376Q|uc001qkx.1_RNA|CACNA1C_uc001qky.1_Missense_Mutation_p.E3Q	p.E1733Q	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	43	5510	+			1733			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.5197G>C	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276611	0.40294	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96913	-4.12;-4.12;-4.11;-4.1;-4.11;-4.13;-4.03;-4.06;-4.12;-4.03;-4.05;-4.12;-4.15;-4.03;-3.94;-4.16;-4.13;-4.11;-4.13;-4.03;-4.12;-4.17	4.62	4.62	0.57501	.	0.976724	0.08364	N	0.957208	D	0.97990	0.9338	M	0.65975	2.015	0.80722	D	1	B;P;P;P;P;P;P;P;P;B;P;P;P;P;B;P;D;P;P;B;B;P;P;P;P	0.67145	0.034;0.73;0.675;0.847;0.604;0.765;0.726;0.765;0.723;0.056;0.765;0.675;0.93;0.76;0.361;0.647;0.996;0.794;0.852;0.338;0.1;0.765;0.765;0.726;0.675	B;B;B;B;B;P;B;P;P;B;P;B;P;P;B;B;D;P;P;B;B;P;P;B;B	0.75484	0.027;0.234;0.295;0.365;0.302;0.474;0.367;0.474;0.481;0.067;0.474;0.295;0.721;0.474;0.058;0.341;0.986;0.481;0.474;0.135;0.022;0.474;0.474;0.367;0.295	D	0.95772	0.8809	10	0.62326	D	0.03	.	17.6395	0.88131	0.0:0.0:1.0:0.0	.	376;1726;1682;1733;1685;1704;1685;1702;1713;1685;1705;1685;1645;1733;1685;1685;1685;1693;1691;1693;1674;1704;1704;1685;1685	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Q	1710;1685;1685;1713;1685;1704;1704;1693;1685;1733;1705;1685;1726;1702;1685;1691;1704;1685;1685;1685;1685;1693;1515	ENSP00000336982:E1710Q;ENSP00000382563:E1685Q;ENSP00000382552:E1685Q;ENSP00000382547:E1713Q;ENSP00000382506:E1685Q;ENSP00000382530:E1704Q;ENSP00000382546:E1704Q;ENSP00000382500:E1693Q;ENSP00000382549:E1685Q;ENSP00000266376:E1733Q;ENSP00000382515:E1705Q;ENSP00000382510:E1685Q;ENSP00000341092:E1726Q;ENSP00000382537:E1702Q;ENSP00000329877:E1685Q;ENSP00000382557:E1691Q;ENSP00000385724:E1704Q;ENSP00000382512:E1685Q;ENSP00000382542:E1685Q;ENSP00000382526:E1685Q;ENSP00000385896:E1685Q;ENSP00000382504:E1693Q	ENSP00000323129:E1515Q	E	+	1	0	CACNA1C	2657256	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	9.523000	0.98034	2.402000	0.81655	0.467000	0.42956	GAG		PASS	0.587	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		9	133	9	133	---	---	---	---
TULP3	7289	broad.mit.edu	37	12	3040350	3040350	+	Missense_Mutation	SNP	G	G	C	rs376478642		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:3040350G>C	ENST00000448120.2	+	6	691	c.640G>C	c.(640-642)Gat>Cat	p.D214H	TULP3_ENST00000397132.2_Missense_Mutation_p.D214H|RNU7-166P_ENST00000459397.1_RNA	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	214					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)	p.D214H(1)		endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AAGGGGAATGGATCGGGGTCT	0.443																																						uc010seh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(640-642)GAT>CAT		tubby like protein 3 isoform 1		G	HIS/ASP,HIS/ASP	0,4406		0,0,2203	83.0	80.0	81.0		640,640	5.6	1.0	12		81	1,8599		0,1,4299	no	missense,missense	TULP3	NM_001160408.1,NM_003324.4	81,81	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	214/502,214/443	3040350	1,13005	2203	4300	6503	SO:0001583	missense	7289				G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	g.chr12:3040350G>C	AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"""Intraflagellar transport homologs"""	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.640G>C	12.37:g.3040350G>C	ENSP00000410051:p.Asp214His					TULP3_uc010sef.1_RNA|TULP3_uc009zec.1_5'UTR|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.D214H|TULP3_uc010sei.1_Missense_Mutation_p.D71H	p.D214H	NM_003324	NP_003315	O75386	TULP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		6	721	+			214					B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP	ENST00000448120.2	37	c.640G>C	CCDS8519.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764070	0.89932	0.0	1.16E-4	ENSG00000078246	ENST00000228245;ENST00000542730;ENST00000448120;ENST00000397132	D;D	0.96716	-4.1;-4.1	5.58	5.58	0.84498	Tubby, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.98295	0.9435	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.994	D	0.99164	1.0862	10	0.87932	D	0	-9.3268	18.5529	0.91072	0.0:0.0:1.0:0.0	.	71;214;214	B7Z1E7;O75386;F8WBZ9	.;TULP3_HUMAN;.	H	214;71;214;214	ENSP00000410051:D214H;ENSP00000380321:D214H	ENSP00000228245:D214H	D	+	1	0	TULP3	2910611	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	9.852000	0.99516	2.616000	0.88540	0.655000	0.94253	GAT		PASS	0.443	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324		73	177	73	177	---	---	---	---
AKAP3	10566	broad.mit.edu	37	12	4725047	4725047	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:4725047G>A	ENST00000545990.2	-	6	2944	c.2420C>T	c.(2419-2421)tCa>tTa	p.S807L	AKAP3_ENST00000228850.1_Missense_Mutation_p.S807L|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	807					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.S807L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AGCAGCAGCTGAGAGCTGAAG	0.582																																						uc001qnb.3																			2	Substitution - Missense(2)		lung(2)	skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						c.(2419-2421)TCA>TTA		A-kinase anchor protein 3							98.0	83.0	88.0					12																	4725047		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4725047G>A	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.2420C>T	12.37:g.4725047G>A	ENSP00000440994:p.Ser807Leu						p.S807L	NM_006422	NP_006413	O75969	AKAP3_HUMAN			5	2649	-			807					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.2420C>T	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852459	0.51270	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.13089	2.62;2.62	4.8	3.91	0.45181	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.52532	D	0.000078	T	0.19208	0.0461	M	0.78801	2.425	0.34206	D	0.673762	B	0.24618	0.107	B	0.26693	0.072	T	0.16689	-1.0394	10	0.62326	D	0.03	-7.1641	10.2993	0.43642	0.093:0.0:0.907:0.0	.	807	O75969	AKAP3_HUMAN	L	807	ENSP00000228850:S807L;ENSP00000440994:S807L	ENSP00000228850:S807L	S	-	2	0	AKAP3	4595308	1.000000	0.71417	0.888000	0.34837	0.306000	0.27790	4.892000	0.63193	1.244000	0.43870	0.655000	0.94253	TCA		PASS	0.582	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		66	143	66	143	---	---	---	---
ACSM4	341392	broad.mit.edu	37	12	7469741	7469741	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:7469741C>G	ENST00000399422.4	+	4	677	c.629C>G	c.(628-630)tCt>tGt	p.S210C		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	210					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)	p.S210C(2)		endometrium(6)|kidney(1)|lung(14)	21						AGATTCGCCTCTGAAGAGCAC	0.483																																						uc001qsx.1																			2	Substitution - Missense(2)		lung(2)		0						c.(628-630)TCT>TGT		acyl-CoA synthetase medium-chain family member 4							62.0	64.0	63.0					12																	7469741		2054	4205	6259	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7469741C>G		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.629C>G	12.37:g.7469741C>G	ENSP00000382349:p.Ser210Cys						p.S210C	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			4	629	+			210					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.629C>G	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091505	0.55968	.	.	ENSG00000215009	ENST00000399422	T	0.12879	2.64	3.73	3.73	0.42828	AMP-dependent synthetase/ligase (1);	0.000000	0.39020	U	0.001485	T	0.45776	0.1359	M	0.93375	3.41	0.37195	D	0.904103	D	0.76494	0.999	D	0.72982	0.979	T	0.66011	-0.6029	10	0.87932	D	0	-3.5779	13.3827	0.60778	0.0:1.0:0.0:0.0	.	210	P0C7M7	ACSM4_HUMAN	C	210	ENSP00000382349:S210C	ENSP00000382349:S210C	S	+	2	0	ACSM4	7361008	0.856000	0.29760	0.922000	0.36590	0.709000	0.40893	3.993000	0.56987	2.081000	0.62600	0.491000	0.48974	TCT		PASS	0.483	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		3	76	3	76	---	---	---	---
CD163L1	283316	broad.mit.edu	37	12	7525937	7525937	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:7525937C>G	ENST00000313599.3	-	14	3766	c.3709G>C	c.(3709-3711)Gag>Cag	p.E1237Q	CD163L1_ENST00000416109.2_Missense_Mutation_p.E1247Q|CD163L1_ENST00000396630.1_Missense_Mutation_p.E1237Q|CD163L1_ENST00000544331.1_5'Flank			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1237	SRCR 11. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.E1237Q(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATCCAGGTCTCTTCTGCTGGG	0.458																																						uc001qsy.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(3709-3711)GAG>CAG		scavenger receptor cysteine-rich type 1							91.0	84.0	86.0					12																	7525937		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7525937C>G	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3709G>C	12.37:g.7525937C>G	ENSP00000315945:p.Glu1237Gln					CD163L1_uc010sge.1_Missense_Mutation_p.E1247Q	p.E1237Q	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			14	3735	-			1237			SRCR 11.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.3709G>C	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818149	0.71028	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35973	1.28;1.28;1.28	2.25	1.34	0.21922	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.221684	0.21871	U	0.067898	T	0.59280	0.2182	M	0.88105	2.93	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.47446	-0.9117	10	0.59425	D	0.04	.	6.9808	0.24702	0.0:0.8448:0.0:0.1552	.	1247;1237	E7EVK4;Q9NR16	.;C163B_HUMAN	Q	1237;1247;1237	ENSP00000315945:E1237Q;ENSP00000393474:E1247Q;ENSP00000379871:E1237Q	ENSP00000315945:E1237Q	E	-	1	0	CD163L1	7417204	1.000000	0.71417	0.004000	0.12327	0.987000	0.75469	6.237000	0.72345	0.486000	0.27676	0.455000	0.32223	GAG		PASS	0.458	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		29	131	29	131	---	---	---	---
CD163L1	283316	broad.mit.edu	37	12	7586033	7586033	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:7586033G>C	ENST00000313599.3	-	3	439	c.382C>G	c.(382-384)Caa>Gaa	p.Q128E	CD163L1_ENST00000416109.2_Missense_Mutation_p.Q128E|CD163L1_ENST00000396630.1_Missense_Mutation_p.Q128E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	128	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.Q128E(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCCGGTGTTGACATTCCCAG	0.433																																						uc001qsy.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(382-384)CAA>GAA		scavenger receptor cysteine-rich type 1							107.0	102.0	104.0					12																	7586033		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7586033G>C	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.382C>G	12.37:g.7586033G>C	ENSP00000315945:p.Gln128Glu					CD163L1_uc010sge.1_Missense_Mutation_p.Q128E	p.Q128E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			3	408	-			128			SRCR 1.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.382C>G	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	0.286	-0.982954	0.02180	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630;ENST00000543276	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	2.22	-2.03	0.07365	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	4.542930	0.01804	U	0.033044	T	0.25344	0.0616	N	0.25094	0.71	0.09310	N	1	B;B	0.22414	0.069;0.069	B;B	0.17433	0.018;0.018	T	0.16188	-1.0411	10	0.24483	T	0.36	.	9.3491	0.38126	0.0:0.0:0.2425:0.7575	.	128;128	E7EVK4;Q9NR16	.;C163B_HUMAN	E	128;128;128;32	ENSP00000315945:Q128E;ENSP00000393474:Q128E;ENSP00000379871:Q128E;ENSP00000442328:Q32E	ENSP00000315945:Q128E	Q	-	1	0	CD163L1	7477300	0.000000	0.05858	0.000000	0.03702	0.519000	0.34347	-2.702000	0.00823	-0.486000	0.06744	0.563000	0.77884	CAA		PASS	0.433	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		8	209	8	209	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7635290	7635290	+	Missense_Mutation	SNP	C	C	T	rs139478533	byFrequency	TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:7635290C>T	ENST00000359156.4	-	14	3398	c.3196G>A	c.(3196-3198)Gtc>Atc	p.V1066I	CD163_ENST00000432237.2_Missense_Mutation_p.V1066I|CD163_ENST00000396620.3_Missense_Mutation_p.V1099I|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.V1054I	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1066					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.V1066I(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AATAATGCGACGAAAATGGCC	0.423													C|||	15	0.00299521	0.0113	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					uc001qsz.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(3196-3198)GTC>ATC		CD163 antigen isoform a		C	ILE/VAL,ILE/VAL	46,4360	48.9+/-83.8	0,46,2157	130.0	138.0	135.0		3196,3196	-0.6	0.0	12	dbSNP_134	135	0,8600		0,0,4300	yes	missense,missense	CD163	NM_004244.5,NM_203416.3	29,29	0,46,6457	TT,TC,CC		0.0,1.044,0.3537	benign,benign	1066/1157,1066/1122	7635290	46,12960	2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7635290C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3196G>A	12.37:g.7635290C>T	ENSP00000352071:p.Val1066Ile					CD163_uc001qta.3_Missense_Mutation_p.V1066I|CD163_uc009zfw.2_Missense_Mutation_p.V1099I	p.V1066I	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			14	3324	-			1066			Helical; (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.3196G>A	CCDS8578.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	0.032	-1.330477	0.01298	0.01044	0.0	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01240	5.12;5.14;5.16;5.13	4.32	-0.639	0.11497	.	1.150940	0.06616	N	0.756554	T	0.00440	0.0014	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.43523	-0.9386	10	0.02654	T	1	.	7.6763	0.28488	0.0:0.3086:0.0:0.6914	.	1099;1066;1066	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	I	1066;1054;1099;1066	ENSP00000352071:V1066I;ENSP00000444071:V1054I;ENSP00000379863:V1099I;ENSP00000403885:V1066I	ENSP00000352071:V1066I	V	-	1	0	CD163	7526557	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.734000	0.04893	-0.102000	0.12197	-1.193000	0.01689	GTC		PASS	0.423	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		63	286	63	286	---	---	---	---
ARHGDIB	397	broad.mit.edu	37	12	15095465	15095465	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:15095465C>T	ENST00000228945.4	-	6	741	c.597G>A	c.(595-597)tgG>tgA	p.W199*	ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541644.1_Nonsense_Mutation_p.W199*|ARHGDIB_ENST00000541546.1_Nonsense_Mutation_p.W199*	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	199					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell adhesion (GO:0007162)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)	p.W199*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						TTCATTCTGTCCACTCCTTCT	0.567																																						uc001rcq.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(595-597)TGG>TGA		Rho GDP dissociation inhibitor (GDI) beta							201.0	154.0	170.0					12																	15095465		2203	4300	6503	SO:0001587	stop_gained	397				actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity	g.chr12:15095465C>T	L07916	CCDS8671.1	12p12.3	2014-01-30				ENSG00000111348		"""Endogenous ligands"""	679	protein-coding gene	gene with protein product		602843		RAP1GN1, GDIA2, GDID4		8434008, 8356058	Standard	NM_001175		Approved	Ly-GDI, RhoGDI2	uc001rcq.1	P52566		ENST00000228945.4:c.597G>A	12.37:g.15095465C>T	ENSP00000228945:p.Trp199*					ARHGDIB_uc001rcp.1_RNA	p.W199*	NM_001175	NP_001166	P52566	GDIR2_HUMAN			6	701	-			199					B5BU79	Nonsense_Mutation	SNP	ENST00000228945.4	37	c.597G>A	CCDS8671.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.563625|4.563625	0.86335|0.86335	.|.	.|.	ENSG00000111348|ENSG00000111348	ENST00000536592|ENST00000228945;ENST00000541644;ENST00000541546	.|.	.|.	.|.	4.73|4.73	4.73|4.73	0.59995|0.59995	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.42539|.	0.1207|.	.|.	.|.	.|.	0.41763|0.41763	D|D	0.989726|0.989726	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29671|.	-1.0004|.	4|.	.|0.02654	.|T	.|1	-5.6341|-5.6341	15.6549|15.6549	0.77126|0.77126	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	N|X	193|199	.|.	.|ENSP00000228945:W199X	D|W	-|-	1|3	0|0	ARHGDIB|ARHGDIB	14986732|14986732	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	7.247000|7.247000	0.78257|0.78257	2.630000|2.630000	0.89119|0.89119	0.650000|0.650000	0.86243|0.86243	GAC|TGG		PASS	0.567	ARHGDIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400871.1	NM_001175		13	255	13	255	---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15732973	15732973	+	Splice_Site	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:15732973A>G	ENST00000281171.4	+	21	3251	c.2921A>G	c.(2920-2922)tAt>tGt	p.Y974C	PTPRO_ENST00000544244.1_Splice_Site_p.Y135C|PTPRO_ENST00000348962.2_Splice_Site_p.Y946C|PTPRO_ENST00000445537.2_Splice_Site_p.Y163C|PTPRO_ENST00000442921.2_Splice_Site_p.Y163C|PTPRO_ENST00000542557.1_Splice_Site_p.Y135C	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	974	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.Y974C(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTCTCTACAGATGACTTCAGC	0.343																																						uc001rcv.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(2920-2922)TAT>TGT		receptor-type protein tyrosine phosphatase O							58.0	61.0	60.0					12																	15732973		2203	4300	6503	SO:0001630	splice_region_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15732973A>G	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2921-1A>G	12.37:g.15732973A>G						PTPRO_uc001rcw.1_Missense_Mutation_p.Y946C|PTPRO_uc001rcx.1_Missense_Mutation_p.Y163C|PTPRO_uc001rcy.1_Missense_Mutation_p.Y163C|PTPRO_uc001rcz.1_Missense_Mutation_p.Y135C|PTPRO_uc001rda.1_Missense_Mutation_p.Y135C	p.Y974C	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			21	3095	+		Hepatocellular(102;0.244)	974			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.2921A>G	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.586214	0.66105	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47	4.42	4.42	0.53409	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.44483	D	0.000455	T	0.41259	0.1151	M	0.75884	2.315	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.31081	-0.9956	9	.	.	.	.	14.1005	0.65051	1.0:0.0:0.0:0.0	.	135;946;974	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	C	974;946;163;135;163;135	ENSP00000281171:Y974C;ENSP00000343434:Y946C;ENSP00000404188:Y163C;ENSP00000437571:Y135C;ENSP00000393449:Y163C;ENSP00000439234:Y135C	.	Y	+	2	0	PTPRO	15624240	1.000000	0.71417	0.999000	0.59377	0.653000	0.38743	8.703000	0.91344	1.974000	0.57490	0.533000	0.62120	TAT		PASS	0.343	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1		Missense_Mutation	53	110	53	110	---	---	---	---
EPS8	2059	broad.mit.edu	37	12	15784501	15784501	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:15784501G>C	ENST00000281172.5	-	18	2355	c.1919C>G	c.(1918-1920)tCc>tGc	p.S640C	EPS8_ENST00000543612.1_Missense_Mutation_p.S640C|EPS8_ENST00000542903.1_Missense_Mutation_p.S380C|EPS8_ENST00000543523.1_Missense_Mutation_p.S640C|EPS8_ENST00000540613.1_Missense_Mutation_p.S380C	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	640	Pro-rich.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)	p.S640C(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TGCTGGAGTGGAAGGGGGAAG	0.542																																						uc009zif.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(1918-1920)TCC>TGC		epidermal growth factor receptor pathway							145.0	121.0	129.0					12																	15784501		2203	4300	6503	SO:0001583	missense	2059				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15784501G>C	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1919C>G	12.37:g.15784501G>C	ENSP00000281172:p.Ser640Cys					EPS8_uc001rdb.2_Missense_Mutation_p.S640C|EPS8_uc009zig.2_Missense_Mutation_p.S380C|EPS8_uc010shv.1_Missense_Mutation_p.S380C	p.S640C	NM_004447	NP_004438	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	18	2013	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	640			Pro-rich.		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	c.1919C>G	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580660	0.28180	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.08008	3.27;3.27;3.27;3.14;3.14	5.65	5.65	0.86999	.	0.771437	0.12690	N	0.447272	T	0.20618	0.0496	L	0.55481	1.735	0.22424	N	0.999114	D	0.69078	0.997	P	0.56865	0.808	T	0.06445	-1.0826	10	0.72032	D	0.01	-3.0621	13.5859	0.61931	0.0:0.202:0.7979:0.0	.	640	Q12929	EPS8_HUMAN	C	640;640;640;380;380;640	ENSP00000441867:S640C;ENSP00000281172:S640C;ENSP00000442388:S640C;ENSP00000441888:S380C;ENSP00000437806:S380C	ENSP00000281172:S640C	S	-	2	0	EPS8	15675768	0.029000	0.19370	0.839000	0.33178	0.450000	0.32258	2.098000	0.41757	2.667000	0.90743	0.650000	0.86243	TCC		PASS	0.542	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			125	180	125	180	---	---	---	---
PLCZ1	89869	broad.mit.edu	37	12	18854647	18854647	+	Nonsense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:18854647T>A	ENST00000538330.1	-	5	532	c.151A>T	c.(151-153)Aga>Tga	p.R51*	PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000541695.1_Nonsense_Mutation_p.R173*|PLCZ1_ENST00000539875.1_Nonsense_Mutation_p.R117*|PLCZ1_ENST00000447925.2_Nonsense_Mutation_p.R308*|PLCZ1_ENST00000435379.1_Nonsense_Mutation_p.R115*|PLCZ1_ENST00000266505.7_Nonsense_Mutation_p.R310*					phospholipase C, zeta 1									p.R310*(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GAACCTTTTCTTTCATGGGTT	0.403																																						uc010sid.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(928-930)AGA>TGA		phospholipase C, zeta 1							98.0	92.0	94.0					12																	18854647		2203	4299	6502	SO:0001587	stop_gained	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18854647T>A	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.151A>T	12.37:g.18854647T>A	ENSP00000445880:p.Arg51*					PLCZ1_uc001rdv.3_Nonsense_Mutation_p.R206*|PLCZ1_uc001rdw.3_Nonsense_Mutation_p.R51*|PLCZ1_uc001rdu.1_Nonsense_Mutation_p.R51*|PLCZ1_uc009zil.1_RNA	p.R310*	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN			8	1119	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		310						Nonsense_Mutation	SNP	ENST00000538330.1	37	c.928A>T		.	.	.	.	.	.	.	.	.	.	T	37	6.490714	0.97607	.	.	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421;ENST00000543242;ENST00000539072	.	.	.	5.35	5.35	0.76521	.	0.282470	0.36338	N	0.002660	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	12.02	0.53337	0.0:0.0:0.0:1.0	.	.	.	.	X	51;310;308;115;173;117;45;51;137	.	ENSP00000266505:R310X	R	-	1	2	PLCZ1	18745914	0.782000	0.28689	0.136000	0.22124	0.017000	0.09413	2.959000	0.49153	2.156000	0.67533	0.533000	0.62120	AGA		PASS	0.403	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		48	33	48	33	---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21008097	21008097	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:21008097G>A	ENST00000381545.3	+	4	439	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.E74K|LST3_ENST00000381541.3_Missense_Mutation_p.E74K|SLCO1B3_ENST00000545880.1_3'UTR|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.E74K|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.E74K|LST3_ENST00000540229.1_Missense_Mutation_p.E74K	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	74					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.E74K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TGGAAGCTTTGAAATTGGTAA	0.328																																						uc001rek.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(220-222)GAA>AAA		solute carrier organic anion transporter family,							67.0	62.0	64.0					12																	21008097		2203	4299	6502	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21008097G>A		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.220G>A	12.37:g.21008097G>A	ENSP00000370956:p.Glu74Lys					SLCO1B3_uc001rel.2_Missense_Mutation_p.E74K|SLCO1B3_uc010sil.1_Missense_Mutation_p.E74K|LST-3TM12_uc010sim.1_Missense_Mutation_p.E74K	p.E74K	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			3	346	+	Esophageal squamous(101;0.149)		74			Helical; Name=2; (Potential).		E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.220G>A	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355286	0.82243	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957	T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67	3.76	3.76	0.43208	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.75199	0.3817	M	0.92507	3.315	0.52099	D	0.999947	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;0.997	D	0.83507	0.0078	10	0.87932	D	0	.	15.7766	0.78224	0.0:0.0:1.0:0.0	.	74;74;74	F5H094;Q5JAR4;Q9NPD5	.;.;SO1B3_HUMAN	K	74	ENSP00000442000:E74K;ENSP00000261196:E74K;ENSP00000370956:E74K;ENSP00000451758:E74K;ENSP00000370952:E74K;ENSP00000441269:E74K;ENSP00000452013:E74K	ENSP00000370952:E74K	E	+	1	0	SLCO1B3;SLCO1B7;RP11-545J16.1	20899364	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	8.831000	0.92068	1.926000	0.55796	0.460000	0.39030	GAA		PASS	0.328	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		11	103	11	103	---	---	---	---
KCNJ8	3764	broad.mit.edu	37	12	21919017	21919017	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:21919017G>A	ENST00000240662.2	-	3	1260	c.915C>T	c.(913-915)atC>atT	p.I305I	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	305					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)	p.I305I(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	CTTGTGTGGTGATGCCAGTAG	0.498																																						uc001rff.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(913-915)ATC>ATT		potassium inwardly-rectifying channel J8	Levosimendan(DB00922)						101.0	82.0	89.0					12																	21919017		2203	4300	6503	SO:0001819	synonymous_variant	3764					voltage-gated potassium channel complex		g.chr12:21919017G>A	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.915C>T	12.37:g.21919017G>A							p.I305I	NM_004982	NP_004973	Q15842	IRK8_HUMAN			3	1253	-			305			Cytoplasmic (By similarity).		O00657	Silent	SNP	ENST00000240662.2	37	c.915C>T	CCDS8692.1																																																																																				PASS	0.498	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		12	233	12	233	---	---	---	---
KCNJ8	3764	broad.mit.edu	37	12	21919230	21919230	+	Silent	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:21919230A>G	ENST00000240662.2	-	3	1047	c.702T>C	c.(700-702)acT>acC	p.T234T	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	234					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)	p.T234T(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	CTTCAGGTGTAGTTGTTTTCT	0.478																																						uc001rff.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(700-702)ACT>ACC		potassium inwardly-rectifying channel J8	Levosimendan(DB00922)						130.0	119.0	123.0					12																	21919230		2203	4300	6503	SO:0001819	synonymous_variant	3764					voltage-gated potassium channel complex		g.chr12:21919230A>G	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.702T>C	12.37:g.21919230A>G							p.T234T	NM_004982	NP_004973	Q15842	IRK8_HUMAN			3	1040	-			234			Cytoplasmic (By similarity).		O00657	Silent	SNP	ENST00000240662.2	37	c.702T>C	CCDS8692.1																																																																																				PASS	0.478	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		5	323	5	323	---	---	---	---
YARS2	51067	broad.mit.edu	37	12	32900274	32900274	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:32900274C>G	ENST00000324868.8	-	5	1325	c.1298G>C	c.(1297-1299)gGa>gCa	p.G433A	YARS2_ENST00000551673.1_5'UTR	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	433					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)	p.G433A(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TATGCTGACTCCGCCTTCTGT	0.348																																						uc001rli.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1297-1299)GGA>GCA		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						95.0	92.0	93.0					12																	32900274		2203	4300	6503	SO:0001583	missense	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32900274C>G	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.1298G>C	12.37:g.32900274C>G	ENSP00000320658:p.Gly433Ala						p.G433A	NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN			5	1364	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		433					D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	c.1298G>C	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769937	0.69992	.	.	ENSG00000139131	ENST00000324868	T	0.75260	-0.92	5.91	5.91	0.95273	RNA-binding S4 (1);	0.108316	0.64402	D	0.000008	T	0.68577	0.3016	L	0.47016	1.485	0.54753	D	0.999989	P	0.50066	0.931	B	0.42827	0.399	T	0.66964	-0.5790	10	0.02654	T	1	-12.5072	20.2956	0.98549	0.0:1.0:0.0:0.0	.	433	Q9Y2Z4	SYYM_HUMAN	A	433	ENSP00000320658:G433A	ENSP00000320658:G433A	G	-	2	0	YARS2	32791541	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.232000	0.58645	2.805000	0.96524	0.460000	0.39030	GGA		PASS	0.348	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		5	397	5	397	---	---	---	---
PKP2	5318	broad.mit.edu	37	12	32975454	32975454	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:32975454C>T	ENST00000070846.6	-	9	1942	c.1918G>A	c.(1918-1920)Gac>Aac	p.D640N	PKP2_ENST00000340811.4_Missense_Mutation_p.D596N	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	640					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.D640N(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TTGTTGTTGTCAGTCTGGATA	0.403																																						uc001rlj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1918-1920)GAC>AAC		plakophilin 2 isoform 2b							131.0	123.0	126.0					12																	32975454		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:32975454C>T	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1918G>A	12.37:g.32975454C>T	ENSP00000070846:p.Asp640Asn					PKP2_uc001rlk.3_Missense_Mutation_p.D596N|PKP2_uc010skj.1_Missense_Mutation_p.D596N	p.D640N	NM_004572	NP_004563	Q99959	PKP2_HUMAN			9	2033	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		640					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.1918G>A	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462334	0.26248	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.85088	-1.94;-1.94	5.05	3.18	0.36537	Armadillo-like helical (1);Armadillo-type fold (1);	0.659026	0.15449	N	0.261797	T	0.67924	0.2945	N	0.12182	0.205	0.09310	N	1	B;B;B	0.10296	0.002;0.001;0.003	B;B;B	0.09377	0.004;0.002;0.004	T	0.53578	-0.8419	10	0.30854	T	0.27	-10.7623	4.0746	0.09897	0.168:0.5572:0.0:0.2748	.	596;596;640	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	N	596;640;640	ENSP00000342800:D596N;ENSP00000070846:D640N	ENSP00000070846:D640N	D	-	1	0	PKP2	32866721	0.080000	0.21391	0.947000	0.38551	0.988000	0.76386	0.548000	0.23314	1.084000	0.41184	0.563000	0.77884	GAC		PASS	0.403	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		12	306	12	306	---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39726900	39726900	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:39726900G>C	ENST00000361418.5	-	19	2512	c.2497C>G	c.(2497-2499)Ctt>Gtt	p.L833V	KIF21A_ENST00000544797.2_Missense_Mutation_p.L820V|KIF21A_ENST00000541463.2_Missense_Mutation_p.L797V|KIF21A_ENST00000395670.3_Missense_Mutation_p.L833V|KIF21A_ENST00000361961.3_Missense_Mutation_p.L820V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	833					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L820V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGCCGACGAAGAGCCGTAACC	0.448																																						uc001rly.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(2497-2499)CTT>GTT		kinesin family member 21A							131.0	125.0	127.0					12																	39726900		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39726900G>C	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2497C>G	12.37:g.39726900G>C	ENSP00000354878:p.Leu833Val					KIF21A_uc001rlv.2_5'Flank|KIF21A_uc001rlw.2_Missense_Mutation_p.L150V|KIF21A_uc001rlx.2_Missense_Mutation_p.L820V|KIF21A_uc001rlz.2_Missense_Mutation_p.L797V|KIF21A_uc010skl.1_Missense_Mutation_p.L820V	p.L833V	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			19	2643	-		Lung NSC(34;0.179)|all_lung(34;0.213)	833					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.2497C>G	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582393	0.86748	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.72394	1.93;1.93;1.93;1.93;-0.65	5.38	5.38	0.77491	.	0.000000	0.45361	D	0.000370	T	0.79040	0.4379	M	0.80332	2.49	0.80722	D	1	B;B;P;B;P	0.38148	0.421;0.093;0.62;0.208;0.532	B;B;B;B;B	0.43754	0.26;0.047;0.399;0.117;0.43	T	0.82006	-0.0671	10	0.87932	D	0	.	19.1305	0.93404	0.0:0.0:1.0:0.0	.	820;797;833;820;833	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3	.;.;KI21A_HUMAN;.;.	V	820;833;833;820;833;797	ENSP00000354851:L820V;ENSP00000379029:L833V;ENSP00000445606:L820V;ENSP00000354878:L833V;ENSP00000438075:L797V	ENSP00000344501:L833V	L	-	1	0	KIF21A	38013167	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.838000	0.75359	2.531000	0.85337	0.557000	0.71058	CTT		PASS	0.448	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		38	240	38	240	---	---	---	---
ABCD2	225	broad.mit.edu	37	12	39980068	39980068	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:39980068G>C	ENST00000308666.3	-	7	1813	c.1678C>G	c.(1678-1680)Caa>Gaa	p.Q560E		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	560	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.Q560E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TAAATGACTTGATCCCGAAGA	0.398																																						uc001rmb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(1678-1680)CAA>GAA		ATP-binding cassette, sub-family D, member 2							164.0	139.0	147.0					12																	39980068		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:39980068G>C	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1678C>G	12.37:g.39980068G>C	ENSP00000310688:p.Gln560Glu						p.Q560E	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			7	2104	-			560			ABC transporter.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.1678C>G	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461980	0.84425	.	.	ENSG00000173208	ENST00000308666	D	0.99845	-7.12	4.59	4.59	0.56863	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.99760	0.9903	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.97303	0.9932	9	.	.	.	-3.1754	17.7659	0.88477	0.0:0.0:1.0:0.0	.	560	Q9UBJ2	ABCD2_HUMAN	E	560	ENSP00000310688:Q560E	.	Q	-	1	0	ABCD2	38266335	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.066000	0.93949	2.247000	0.74100	0.462000	0.41574	CAA		PASS	0.398	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		89	146	89	146	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40619421	40619421	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:40619421G>A	ENST00000298910.7	+	2	274	c.216G>A	c.(214-216)atG>atA	p.M72I	AC079630.4_ENST00000412812.1_RNA|LRRK2_ENST00000343742.2_Missense_Mutation_p.M72I	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	72					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.M72I(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACTCCTATATGAGAGTCGCGA	0.438																																						uc001rmg.3																			2	Substitution - Missense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(214-216)ATG>ATA		leucine-rich repeat kinase 2							99.0	89.0	92.0					12																	40619421		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40619421G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.216G>A	12.37:g.40619421G>A	ENSP00000298910:p.Met72Ile						p.M72I	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			2	337	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	72					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.216G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.856765	0.51376	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.21361	2.01;2.01;2.01	5.52	4.63	0.57726	.	0.456639	0.26045	N	0.026678	T	0.17746	0.0426	L	0.36672	1.1	0.26274	N	0.978379	B	0.02656	0.0	B	0.01281	0.0	T	0.12319	-1.0552	10	0.45353	T	0.12	.	11.8799	0.52568	0.0821:0.0:0.9179:0.0	.	72	Q5S007	LRRK2_HUMAN	I	1;72;72	ENSP00000398726:M1I;ENSP00000341930:M72I;ENSP00000298910:M72I	ENSP00000298910:M72I	M	+	3	0	LRRK2	38905688	0.987000	0.35691	0.996000	0.52242	0.978000	0.69477	0.615000	0.24329	1.332000	0.45431	0.655000	0.94253	ATG		PASS	0.438	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		5	105	5	105	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40689242	40689242	+	Silent	SNP	T	T	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:40689242T>G	ENST00000298910.7	+	23	2950	c.2892T>G	c.(2890-2892)ctT>ctG	p.L964L	LRRK2_ENST00000343742.2_Silent_p.L964L	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	964					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.L964L(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CATCAAAACTTCAATCCCATA	0.333																																						uc001rmg.3																			2	Substitution - coding silent(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(2890-2892)CTT>CTG		leucine-rich repeat kinase 2							55.0	58.0	57.0					12																	40689242		2203	4300	6503	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40689242T>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2892T>G	12.37:g.40689242T>G						LRRK2_uc001rmh.1_Silent_p.L586L|LRRK2_uc009zjw.2_5'UTR	p.L964L	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			23	3013	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	964					A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.2892T>G	CCDS31774.1																																																																																				PASS	0.333	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		8	149	8	149	---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41410677	41410677	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:41410677G>C	ENST00000551295.2	+	19	2495	c.2378G>C	c.(2377-2379)gGa>gCa	p.G793A	CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Missense_Mutation_p.G793A|CNTN1_ENST00000348761.2_Missense_Mutation_p.G782A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	793	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.G793A(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAAGGAGATGGACCTTACAGC	0.433																																						uc001rmm.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(2377-2379)GGA>GCA		contactin 1 isoform 1 precursor							105.0	90.0	95.0					12																	41410677		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41410677G>C	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2378G>C	12.37:g.41410677G>C	ENSP00000447006:p.Gly793Ala					CNTN1_uc001rmn.1_Missense_Mutation_p.G782A	p.G793A	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			19	2491	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	793			Fibronectin type-III 2.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.2378G>C	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878173	0.91664	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.62941	-0.01;-0.01;-0.01	5.35	5.35	0.76521	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80523	0.4639	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.78881	-0.2029	10	0.42905	T	0.14	.	19.9544	0.97215	0.0:0.0:1.0:0.0	.	782;793	Q12860-2;Q12860	.;CNTN1_HUMAN	A	793;793;782	ENSP00000447006:G793A;ENSP00000325660:G793A;ENSP00000261160:G782A	ENSP00000325660:G793A	G	+	2	0	CNTN1	39696944	1.000000	0.71417	0.985000	0.45067	0.989000	0.77384	9.350000	0.97070	2.885000	0.99019	0.655000	0.94253	GGA		PASS	0.433	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		17	127	17	127	---	---	---	---
PRICKLE1	144165	broad.mit.edu	37	12	42862463	42862463	+	Missense_Mutation	SNP	C	C	G	rs61924369		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:42862463C>G	ENST00000455697.1	-	5	838	c.553G>C	c.(553-555)Gaa>Caa	p.E185Q	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E185Q|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E185Q|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E185Q|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E185Q|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	185	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E185Q(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TTGAGCAGTTCTGCATGGTGC	0.433																																						uc010skv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(553-555)GAA>CAA		prickle homolog 1							93.0	93.0	93.0					12																	42862463		2203	4300	6503	SO:0001583	missense	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42862463C>G	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.553G>C	12.37:g.42862463C>G	ENSP00000401060:p.Glu185Gln					PRICKLE1_uc001rnl.2_Missense_Mutation_p.E185Q|PRICKLE1_uc010skw.1_Missense_Mutation_p.E185Q|PRICKLE1_uc001rnm.2_Missense_Mutation_p.E185Q	p.E185Q	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	5	840	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		185			LIM zinc-binding 1.		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.553G>C	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	C	33	5.268545	0.95429	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24	5.55	5.55	0.83447	Zinc finger, LIM-type (3);	0.000000	0.85682	D	0.000000	D	0.93579	0.7950	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93496	0.6840	10	0.66056	D	0.02	-12.5088	19.8703	0.96847	0.0:1.0:0.0:0.0	.	185	Q96MT3	PRIC1_HUMAN	Q	185	ENSP00000401060:E185Q;ENSP00000398947:E185Q;ENSP00000448359:E185Q;ENSP00000345064:E185Q;ENSP00000449819:E185Q	ENSP00000345064:E185Q	E	-	1	0	PRICKLE1	41148730	1.000000	0.71417	0.924000	0.36721	0.916000	0.54674	7.445000	0.80570	2.770000	0.95276	0.650000	0.86243	GAA		PASS	0.433	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			6	142	6	142	---	---	---	---
PLEKHA8P1	51054	broad.mit.edu	37	12	45568035	45568035	+	RNA	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:45568035C>A	ENST00000256692.5	-	0	650					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)	p.L38F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTGATTTCAGCAAAGTTCCCA	0.453																																						uc001rom.1																			1	Substitution - Missense(1)		lung(1)		0						c.(112-114)TTG>TTT		pleckstrin homology domain containing, family A							237.0	228.0	231.0					12																	45568035		2203	4300	6503			51054							g.chr12:45568035C>A	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45568035C>A						PLEKHA9_uc009zke.2_Missense_Mutation_p.L38F	p.L38F	NM_015899	NP_056983				GBM - Glioblastoma multiforme(48;0.173)	3	651	-	Lung SC(27;0.192)|Renal(347;0.236)								Missense_Mutation	SNP	ENST00000256692.5	37	c.114G>T																																																																																					PASS	0.453	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144		228	319	228	319	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46123889	46123889	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:46123889C>T	ENST00000334344.6	+	2	327	c.155C>T	c.(154-156)aCc>aTc	p.T52I	ARID2_ENST00000422737.1_5'UTR|LINC00938_ENST00000609803.1_lincRNA	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	52	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.T52I(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGTCTCTACACCAGAGTCACT	0.527			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(154-156)ACC>ATC		AT rich interactive domain 2 (ARID, RFX-like)							85.0	86.0	86.0					12																	46123889		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46123889C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.155C>T	12.37:g.46123889C>T	ENSP00000335044:p.Thr52Ile					ARID2_uc001ror.2_Missense_Mutation_p.T52I|LOC400027_uc001roq.2_5'Flank	p.T52I	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	2	155	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	52			ARID.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.155C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	c	10.08	1.251051	0.22880	.	.	ENSG00000189079	ENST00000334344	T	0.62639	0.01	2.4	2.4	0.29515	ARID/BRIGHT DNA-binding domain (5);	0.501906	0.17045	U	0.189174	T	0.49115	0.1538	N	0.22421	0.69	0.80722	D	1	B	0.25563	0.129	B	0.30179	0.112	T	0.48603	-0.9021	10	0.49607	T	0.09	.	12.6542	0.56778	0.0:1.0:0.0:0.0	.	52	Q68CP9	ARID2_HUMAN	I	52	ENSP00000335044:T52I	ENSP00000335044:T52I	T	+	2	0	ARID2	44410156	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	2.443000	0.44881	0.863000	0.35553	0.177000	0.17058	ACC		PASS	0.527	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		55	78	55	78	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46245204	46245204	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:46245204C>G	ENST00000334344.6	+	15	3470	c.3298C>G	c.(3298-3300)Cag>Gag	p.Q1100E	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000422737.1_Missense_Mutation_p.Q951E|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.Q710E	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1100	Gln-rich.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.Q1100E(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGTGGTCTATCAGGTGGCCAG	0.532			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(3298-3300)CAG>GAG		AT rich interactive domain 2 (ARID, RFX-like)							69.0	66.0	67.0					12																	46245204		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245204C>G		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3298C>G	12.37:g.46245204C>G	ENSP00000335044:p.Gln1100Glu					ARID2_uc001ror.2_Missense_Mutation_p.Q1100E|ARID2_uc009zkg.1_Missense_Mutation_p.Q556E|ARID2_uc009zkh.1_Missense_Mutation_p.Q727E|ARID2_uc001rou.1_Missense_Mutation_p.Q434E	p.Q1100E	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3298	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1100			Gln-rich.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.3298C>G	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187136	0.57909	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.51071	0.72	6.04	6.04	0.98038	.	0.100271	0.64402	D	0.000001	T	0.60560	0.2278	L	0.29908	0.895	0.80722	D	1	D;D;D	0.61697	0.99;0.99;0.969	D;D;D	0.72982	0.979;0.979;0.93	T	0.58725	-0.7586	10	0.52906	T	0.07	-4.0388	20.5948	0.99439	0.0:1.0:0.0:0.0	.	1100;710;1100	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	E	1100;217;217;951;710	ENSP00000335044:Q1100E	ENSP00000335044:Q1100E	Q	+	1	0	ARID2	44531471	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.263000	0.78421	2.873000	0.98535	0.563000	0.77884	CAG		PASS	0.532	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		12	147	12	147	---	---	---	---
RPAP3	79657	broad.mit.edu	37	12	48084348	48084348	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:48084348C>T	ENST00000005386.3	-	6	735	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	RPAP3_ENST00000380650.4_Missense_Mutation_p.R207Q|RPAP3_ENST00000432584.3_Missense_Mutation_p.R48Q	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	207								p.R207Q(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AGCAGCACCTCGTCTGGAATA	0.338																																						uc001rpr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(619-621)CGA>CAA		RNA polymerase II associated protein 3 isoform							126.0	136.0	133.0					12																	48084348		2203	4300	6503	SO:0001583	missense	79657						binding	g.chr12:48084348C>T	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.620G>A	12.37:g.48084348C>T	ENSP00000005386:p.Arg207Gln					RPAP3_uc010slk.1_Missense_Mutation_p.R48Q|RPAP3_uc001rps.2_Missense_Mutation_p.R207Q	p.R207Q	NM_024604	NP_078880	Q9H6T3	RPAP3_HUMAN			6	736	-	Lung SC(27;0.192)		207			TPR 4.		B4DRW9|Q6PHR5	Missense_Mutation	SNP	ENST00000005386.3	37	c.620G>A	CCDS8753.1	.	.	.	.	.	.	.	.	.	.	C	32	5.117525	0.94385	.	.	ENSG00000005175	ENST00000005386;ENST00000432584;ENST00000380650	T;T;T	0.67523	-0.27;-0.13;-0.27	4.95	4.95	0.65309	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.156944	0.56097	D	0.000038	D	0.85703	0.5758	M	0.93375	3.41	0.54753	D	0.99998	D;D	0.76494	0.999;0.997	D;D	0.66196	0.934;0.942	D	0.89174	0.3539	10	0.66056	D	0.02	.	17.6177	0.88072	0.0:1.0:0.0:0.0	.	207;207	Q9H6T3-2;Q9H6T3	.;RPAP3_HUMAN	Q	207;48;207	ENSP00000005386:R207Q;ENSP00000401823:R48Q;ENSP00000370024:R207Q	ENSP00000005386:R207Q	R	-	2	0	RPAP3	46370615	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.360000	0.73064	2.677000	0.91161	0.585000	0.79938	CGA		PASS	0.338	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		108	442	108	442	---	---	---	---
RAPGEF3	10411	broad.mit.edu	37	12	48131351	48131351	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:48131351C>T	ENST00000449771.2	-	28	2859	c.2771G>A	c.(2770-2772)tGa>tAa	p.*924*	RAPGEF3_ENST00000549151.1_Silent_p.*882*|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000548919.1_Silent_p.*815*|RAPGEF3_ENST00000389212.3_Silent_p.*924*|RAPGEF3_ENST00000171000.4_Silent_p.*882*|RAPGEF3_ENST00000405493.2_Silent_p.*882*			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	0					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.*882*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGCCCCTCCTCATGGCTCCAG	0.647																																						uc009zkp.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(1)|pancreas(1)	4						c.(2644-2646)TGA>TAA		Rap guanine nucleotide exchange factor 3 isoform							26.0	26.0	26.0					12																	48131351		2203	4300	6503	SO:0001819	synonymous_variant	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48131351C>T	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.2771G>A	12.37:g.48131351C>T						uc001rpv.2_Intron|RAPGEF3_uc001rpw.2_Silent_p.*217*|RAPGEF3_uc001rpx.2_Silent_p.*339*|RAPGEF3_uc010sln.1_Silent_p.*379*|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Silent_p.*882*|RAPGEF3_uc001rpz.3_Silent_p.*924*	p.*882*	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	27	3085	-	Lung SC(27;0.192)		882					A8K2G5|E7EQC8|O95634|Q8WVN0	Silent	SNP	ENST00000449771.2	37	c.2645G>A	CCDS41775.1																																																																																				PASS	0.647	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		9	15	9	15	---	---	---	---
SENP1	29843	broad.mit.edu	37	12	48457586	48457586	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:48457586C>T	ENST00000004980.5	-	13	1792	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Silent_p.G438G|SENP1_ENST00000549518.1_Silent_p.G438G|SENP1_ENST00000551330.1_Silent_p.G438G|SENP1_ENST00000549595.1_Silent_p.G438G			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	438					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)	p.G438G(1)		large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CATCCTGATTCCCATTACGAA	0.378																																						uc001rqx.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|lung(1)	3						c.(1312-1314)GGG>GGA		sentrin/SUMO-specific protease 1							145.0	134.0	137.0					12																	48457586		1875	4113	5988	SO:0001819	synonymous_variant	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48457586C>T	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.1314G>A	12.37:g.48457586C>T						SENP1_uc001rqw.2_Silent_p.G438G|SENP1_uc001rqy.2_Silent_p.G239G|SENP1_uc001rqz.2_Silent_p.G239G|SENP1_uc009zkx.2_Silent_p.G438G	p.G438G	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN			13	1760	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	438					A8K7P5|Q86XC8	Silent	SNP	ENST00000004980.5	37	c.1314G>A	CCDS44868.2																																																																																				PASS	0.378	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		17	76	17	76	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49442443	49442443	+	Splice_Site	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:49442443T>C	ENST00000301067.7	-	13	4129	c.4130A>G	c.(4129-4131)cAg>cGg	p.Q1377R		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1377					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q1104R(1)|p.Q1377R(1)									GTATGGTACCTGCATTAGGAC	0.463																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(4129-4131)CAG>CGG		myeloid/lymphoid or mixed-lineage leukemia 2							239.0	238.0	238.0					12																	49442443		2007	4174	6181	SO:0001630	splice_region_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49442443T>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4131+1A>G	12.37:g.49442443T>C		HNSCC(34;0.089)					p.Q1377R	NM_003482	NP_003473	O14686	MLL2_HUMAN			13	4130	-			1377			PHD-type 3.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.4130A>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.800671	0.50315	.	.	ENSG00000167548	ENST00000301067	D	0.87491	-2.26	5.92	5.92	0.95590	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.33591	N	0.004743	D	0.92001	0.7466	L	0.57536	1.79	0.58432	D	0.999997	D	0.69078	0.997	D	0.75484	0.986	D	0.92692	0.6167	10	0.87932	D	0	.	15.3419	0.74303	0.0:0.0:0.0:1.0	.	1377	O14686	MLL2_HUMAN	R	1377	ENSP00000301067:Q1377R	ENSP00000301067:Q1377R	Q	-	2	0	MLL2	47728710	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	8.000000	0.88501	2.267000	0.75376	0.383000	0.25322	CAG		PASS	0.463	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Missense_Mutation	182	300	182	300	---	---	---	---
DHH	50846	broad.mit.edu	37	12	49488131	49488131	+	Silent	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:49488131C>A	ENST00000266991.2	-	1	471	c.165G>T	c.(163-165)cgG>cgT	p.R55R	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	55					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.R55R(1)		breast(1)|large_intestine(3)|lung(4)	8						CGCCCAGGGTCCGCTCTGGCA	0.706																																						uc001rtf.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)	2						c.(163-165)CGG>CGT		desert hedgehog preproprotein							37.0	39.0	38.0					12																	49488131		2200	4297	6497	SO:0001819	synonymous_variant	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49488131C>A	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"""desert hedgehog (Drosophila) homolog"""			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.165G>T	12.37:g.49488131C>A							p.R55R	NM_021044	NP_066382	O43323	DHH_HUMAN			1	472	-			55					Q15794	Silent	SNP	ENST00000266991.2	37	c.165G>T	CCDS8779.1																																																																																				PASS	0.706	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		18	88	18	88	---	---	---	---
DHH	50846	broad.mit.edu	37	12	49488136	49488136	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:49488136C>G	ENST00000266991.2	-	1	466	c.160G>C	c.(160-162)Gag>Cag	p.E54Q	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	54					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.E54Q(1)		breast(1)|large_intestine(3)|lung(4)	8						AGGGTCCGCTCTGGCACGCCG	0.706																																						uc001rtf.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(160-162)GAG>CAG		desert hedgehog preproprotein							35.0	36.0	36.0					12																	49488136		2200	4298	6498	SO:0001583	missense	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49488136C>G	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"""desert hedgehog (Drosophila) homolog"""			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.160G>C	12.37:g.49488136C>G	ENSP00000266991:p.Glu54Gln						p.E54Q	NM_021044	NP_066382	O43323	DHH_HUMAN			1	467	-			54					Q15794	Missense_Mutation	SNP	ENST00000266991.2	37	c.160G>C	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	c	26.3	4.726744	0.89298	.	.	ENSG00000139549	ENST00000266991	D	0.99719	-6.52	5.14	5.14	0.70334	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.99802	0.9915	H	0.94847	3.59	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	D	0.96930	0.9680	10	0.87932	D	0	-7.2534	17.4326	0.87543	0.0:1.0:0.0:0.0	.	54	O43323	DHH_HUMAN	Q	54	ENSP00000266991:E54Q	ENSP00000266991:E54Q	E	-	1	0	DHH	47774403	1.000000	0.71417	0.998000	0.56505	0.749000	0.42624	7.716000	0.84723	2.418000	0.82041	0.450000	0.29827	GAG		PASS	0.706	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		17	90	17	90	---	---	---	---
AQP5	362	broad.mit.edu	37	12	50356011	50356011	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:50356011G>T	ENST00000293599.6	+	1	359	c.211G>T	c.(211-213)Gcc>Tcc	p.A71S	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	71					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)	p.A71S(1)		large_intestine(1)|lung(3)	4						CATCAACCCCGCCATCACCCT	0.692																																						uc001rvo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(211-213)GCC>TCC		aquaporin 5							37.0	36.0	36.0					12																	50356011		2203	4299	6502	SO:0001583	missense	362				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity	g.chr12:50356011G>T	U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"""Ion channels / Aquaporins"""	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.211G>T	12.37:g.50356011G>T	ENSP00000293599:p.Ala71Ser						p.A71S	NM_001651	NP_001642	P55064	AQP5_HUMAN			1	733	+			71			Cytoplasmic (Potential).|NPA 1.		Q6FGW8	Missense_Mutation	SNP	ENST00000293599.6	37	c.211G>T	CCDS8793.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443220	0.83993	.	.	ENSG00000161798	ENST00000293599	D	0.89746	-2.56	3.76	2.83	0.33086	Major intrinsic protein, conserved site (1);Aquaporin-like (2);	0.106364	0.39909	N	0.001230	D	0.95648	0.8585	H	0.95850	3.73	0.54753	D	0.99998	D	0.76494	0.999	D	0.87578	0.998	D	0.95492	0.8570	10	0.87932	D	0	-0.0176	10.8701	0.46879	0.0:0.1937:0.8062:0.0	.	71	P55064	AQP5_HUMAN	S	71	ENSP00000293599:A71S	ENSP00000293599:A71S	A	+	1	0	AQP5	48642278	1.000000	0.71417	0.689000	0.30133	0.932000	0.56968	9.601000	0.98297	0.876000	0.35872	0.462000	0.41574	GCC		PASS	0.692	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405542.2	NM_001651		16	31	16	31	---	---	---	---
SMARCD1	6602	broad.mit.edu	37	12	50482376	50482376	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:50482376G>A	ENST00000394963.4	+	6	1125	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	SMARCD1_ENST00000381513.4_Missense_Mutation_p.E243K|SMARCD1_ENST00000548573.1_Missense_Mutation_p.E41K	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1									p.E204K(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CTTGGTGATTGAACTGGACAA	0.423																																						uc001rvx.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(727-729)GAA>AAA		SWI/SNF-related matrix-associated							103.0	94.0	97.0					12																	50482376		2203	4300	6503	SO:0001583	missense	6602				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity	g.chr12:50482376G>A	U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.727G>A	12.37:g.50482376G>A	ENSP00000378414:p.Glu243Lys					SMARCD1_uc010smo.1_Missense_Mutation_p.E243K|SMARCD1_uc001rvy.3_Missense_Mutation_p.E243K|SMARCD1_uc009zlp.2_Missense_Mutation_p.E202K	p.E243K	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN			6	897	+			243			Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.|Interaction with SMARCC1 and SMARCC2.			Missense_Mutation	SNP	ENST00000394963.4	37	c.727G>A	CCDS8797.2	.	.	.	.	.	.	.	.	.	.	G	36	5.649635	0.96714	.	.	ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000551966;ENST00000542914;ENST00000548573	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.77150	0.4088	M	0.87328	2.875	0.80722	D	1	D;D;D;P	0.76494	0.998;0.989;0.999;0.583	D;D;D;B	0.85130	0.997;0.959;0.987;0.42	T	0.81274	-0.1007	10	0.72032	D	0.01	-16.0961	18.5568	0.91088	0.0:0.0:1.0:0.0	.	243;41;243;243	B4DF50;F8VRQ4;Q96GM5-2;Q96GM5	.;.;.;SMRD1_HUMAN	K	243;243;202;19;41	ENSP00000378414:E243K;ENSP00000370924:E243K;ENSP00000447386:E202K;ENSP00000448627:E41K	ENSP00000370924:E243K	E	+	1	0	SMARCD1	48768643	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.559000	0.98135	2.698000	0.92095	0.561000	0.74099	GAA		PASS	0.423	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316759.2	NM_003076		17	151	17	151	---	---	---	---
SCN8A	6334	broad.mit.edu	37	12	52099357	52099357	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:52099357G>A	ENST00000354534.6	+	10	1469	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	SCN8A_ENST00000545061.1_Missense_Mutation_p.E431K|SCN8A_ENST00000550891.1_Missense_Mutation_p.E431K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	431					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.E431K(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	AAAAGAGGCTGAATTTAAAGC	0.453																																						uc001ryw.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(1291-1293)GAA>AAA		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						109.0	112.0	111.0					12																	52099357		2089	4249	6338	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52099357G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.1291G>A	12.37:g.52099357G>A	ENSP00000346534:p.Glu431Lys					SCN8A_uc010snl.1_Missense_Mutation_p.E296K|SCN8A_uc001ryx.1_Missense_Mutation_p.E296K|SCN8A_uc001ryz.1_Missense_Mutation_p.E296K|SCN8A_uc001ryy.2_Missense_Mutation_p.E296K	p.E431K	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	10	1469	+			431			I.		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.1291G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538327	0.85917	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.97066	-4.06;-4.08;-4.05;-3.94;-4.23	4.96	4.96	0.65561	.	0.104804	0.64402	D	0.000005	D	0.97845	0.9292	L	0.58428	1.81	0.80722	D	1	D;D;D;D	0.71674	0.996;0.998;0.974;0.997	D;D;D;D	0.80764	0.987;0.994;0.969;0.98	D	0.97019	0.9742	10	0.32370	T	0.25	.	18.7983	0.92005	0.0:0.0:1.0:0.0	.	431;431;431;431	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	K	431;431;431;431;344;229	ENSP00000448415:E431K;ENSP00000346534:E431K;ENSP00000440360:E431K;ENSP00000347255:E431K;ENSP00000447567:E229K	ENSP00000346534:E431K	E	+	1	0	SCN8A	50385624	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.752000	0.94435	0.655000	0.94253	GAA		PASS	0.453	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		5	58	5	58	---	---	---	---
KRT85	3891	broad.mit.edu	37	12	52760965	52760965	+	Silent	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:52760965G>T	ENST00000257901.3	-	1	300	c.225C>A	c.(223-225)tcC>tcA	p.S75S	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	75	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.S75S(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCGTCCGCAGGAGCCGGCTC	0.697																																						uc001sag.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(223-225)TCC>TCA		keratin 85							28.0	35.0	32.0					12																	52760965		2199	4292	6491	SO:0001819	synonymous_variant	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52760965G>T	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.225C>A	12.37:g.52760965G>T							p.S75S	NM_002283	NP_002274	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	345	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		75			Head.		Q9NSB1	Silent	SNP	ENST00000257901.3	37	c.225C>A	CCDS8824.1																																																																																				PASS	0.697	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		15	26	15	26	---	---	---	---
ITGB7	3695	broad.mit.edu	37	12	53590369	53590369	+	Silent	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:53590369G>T	ENST00000267082.5	-	6	1041	c.810C>A	c.(808-810)ctC>ctA	p.L270L	ITGB7_ENST00000550743.2_Silent_p.L270L|ITGB7_ENST00000422257.3_Silent_p.L270L|ITGB7_ENST00000338737.4_Silent_p.L270L	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	270	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.L270L(1)		NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCACCTGGCAGAGTGCAGCCT	0.622																																						uc009zmv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8						c.(808-810)CTC>CTA		integrin, beta 7 precursor							51.0	43.0	45.0					12																	53590369		2203	4299	6502	SO:0001819	synonymous_variant	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53590369G>T		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.810C>A	12.37:g.53590369G>T						ITGB7_uc001scc.2_Silent_p.L270L|ITGB7_uc010snz.1_RNA|ITGB7_uc010soa.1_3'UTR	p.L270L	NM_000889	NP_000880	P26010	ITB7_HUMAN			5	881	-			270			VWFA.|Extracellular (Potential).		Q9UCP7|Q9UCS7	Silent	SNP	ENST00000267082.5	37	c.810C>A	CCDS8849.1																																																																																				PASS	0.622	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			18	39	18	39	---	---	---	---
PFDN5	5204	broad.mit.edu	37	12	53689355	53689355	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:53689355G>T	ENST00000551018.1	+	1	281	c.4G>T	c.(4-6)Gcg>Tcg	p.A2S	PFDN5_ENST00000351500.3_Missense_Mutation_p.A2S|PFDN5_ENST00000334478.4_Missense_Mutation_p.A2S|PFDN5_ENST00000550846.1_Missense_Mutation_p.A2S	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	2					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	transcription corepressor activity (GO:0003714)	p.A2S(1)		kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						TCCCAACATGGCGCAGTCTAT	0.617																																						uc001scl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4-6)GCG>TCG		prefoldin subunit 5 isoform alpha							119.0	115.0	116.0					12																	53689355		2203	4300	6503	SO:0001583	missense	5204				'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr12:53689355G>T	D89667	CCDS8853.1, CCDS8854.1	12q13.13	2008-05-14	2006-02-24						8869	protein-coding gene	gene with protein product		604899	"""prefoldin 5"""			9630229, 9792694	Standard	NM_002624		Approved	PFD5, MM-1	uc001scl.3	Q99471	OTTHUMG00000169675	ENST00000551018.1:c.4G>T	12.37:g.53689355G>T	ENSP00000447942:p.Ala2Ser					PFDN5_uc001scm.2_Missense_Mutation_p.A2S|PFDN5_uc001scn.2_RNA|PFDN5_uc001sco.2_RNA	p.A2S	NM_002624	NP_002615	Q99471	PFD5_HUMAN			1	121	+			2					A8K9A8|Q54AA8|Q9C083|Q9C084	Missense_Mutation	SNP	ENST00000551018.1	37	c.4G>T	CCDS8853.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.864332	0.71949	.	.	ENSG00000123349	ENST00000551018;ENST00000351500;ENST00000334478	.	.	.	5.73	5.73	0.89815	.	0.140012	0.47852	D	0.000217	T	0.62011	0.2393	L	0.27053	0.805	0.53005	D	0.999964	D;P	0.58970	0.984;0.675	D;B	0.65443	0.935;0.092	T	0.51988	-0.8635	9	0.12430	T	0.62	.	17.7778	0.88515	0.0:0.0:1.0:0.0	.	2;2	Q9C083;Q99471	.;PFD5_HUMAN	S	2	.	ENSP00000243040:A2S	A	+	1	0	PFDN5	51975622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.324000	0.79115	2.882000	0.98803	0.655000	0.94253	GCG		PASS	0.617	PFDN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405368.2			56	149	56	149	---	---	---	---
AMHR2	269	broad.mit.edu	37	12	53818148	53818148	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:53818148G>A	ENST00000257863.4	+	2	206	c.126G>A	c.(124-126)ctG>ctA	p.L42L	AMHR2_ENST00000379791.3_Silent_p.L42L|AMHR2_ENST00000550311.1_Silent_p.L42L	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	42					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.L42L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TGGGAGAGCTGCTAGATACAG	0.602																																						uc001scx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(124-126)CTG>CTA		anti-Mullerian hormone receptor, type II isoform	Adenosine triphosphate(DB00171)						43.0	44.0	44.0					12																	53818148		2203	4300	6503	SO:0001819	synonymous_variant	269	Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)			Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53818148G>A	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.126G>A	12.37:g.53818148G>A						AMHR2_uc009zmy.1_Silent_p.L42L	p.L42L	NM_020547	NP_065434	Q16671	AMHR2_HUMAN			2	204	+			42			Extracellular (Potential).		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	ENST00000257863.4	37	c.126G>A	CCDS8858.1																																																																																				PASS	0.602	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		34	52	34	52	---	---	---	---
HOXC9	3225	broad.mit.edu	37	12	54396299	54396299	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:54396299G>A	ENST00000303450.4	+	2	694	c.624G>A	c.(622-624)gaG>gaA	p.E208E	HOXC9_ENST00000508190.1_Silent_p.E208E|RP11-834C11.12_ENST00000513209.1_Intron|HOXC-AS1_ENST00000512427.1_RNA|HOXC-AS1_ENST00000505700.1_RNA|HOXC9_ENST00000504557.1_3'UTR	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	208					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E208E(1)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						TGGAACTGGAGAAGGAGTTTC	0.557																																						uc001sep.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|pancreas(1)|skin(1)	3						c.(622-624)GAG>GAA		homeobox C9							78.0	82.0	80.0					12																	54396299		2203	4300	6503	SO:0001819	synonymous_variant	3225				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54396299G>A		CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"""Homeoboxes / ANTP class : HOXL subclass"""	5130	protein-coding gene	gene with protein product		142971	"""homeo box C9"""	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.624G>A	12.37:g.54396299G>A						HOXC9_uc001seq.2_Silent_p.E208E	p.E208E	NM_006897	NP_008828	P31274	HXC9_HUMAN			3	722	+			208			Homeobox.		B2RCN7|Q9H1I0	Silent	SNP	ENST00000303450.4	37	c.624G>A	CCDS8869.1																																																																																				PASS	0.557	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1			6	202	6	202	---	---	---	---
HOXC6	3223	broad.mit.edu	37	12	54423608	54423608	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:54423608G>T	ENST00000243108.4	+	2	734	c.570G>T	c.(568-570)caG>caT	p.Q190H	RP11-834C11.14_ENST00000512206.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC6_ENST00000394331.3_Missense_Mutation_p.Q108H|HOXC4_ENST00000303406.4_Intron	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	190					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.Q190H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTGGTTCCAGAACCGCCGGA	0.572																																						uc001sev.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(568-570)CAG>CAT		homeobox C6 isoform 1							80.0	90.0	87.0					12																	54423608		2203	4300	6503	SO:0001583	missense	3223				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:54423608G>T		CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"""Homeoboxes / ANTP class : HOXL subclass"""	5128	protein-coding gene	gene with protein product		142972	"""homeo box C6"""	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.570G>T	12.37:g.54423608G>T	ENSP00000243108:p.Gln190His					HOXC6_uc001ses.2_Missense_Mutation_p.Q108H|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron	p.Q190H	NM_004503	NP_004494	P09630	HXC6_HUMAN			2	682	+			190			Homeobox.		B2RBV2|Q6DK09	Missense_Mutation	SNP	ENST00000243108.4	37	c.570G>T	CCDS8871.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191365	0.58017	.	.	ENSG00000197757	ENST00000394331;ENST00000243108	D;D	0.97688	-4.49;-4.49	4.69	3.68	0.42216	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99067	0.9680	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98556	1.0639	10	0.87932	D	0	.	8.9603	0.35842	0.1968:0.0:0.8032:0.0	.	190	P09630	HXC6_HUMAN	H	108;190	ENSP00000377864:Q108H;ENSP00000243108:Q190H	ENSP00000243108:Q190H	Q	+	3	2	HOXC6	52709875	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.792000	0.47837	1.014000	0.39417	0.561000	0.74099	CAG		PASS	0.572	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358943.2			38	134	38	134	---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54902176	54902176	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:54902176C>G	ENST00000293373.6	+	5	446	c.367C>G	c.(367-369)Ctc>Gtc	p.L123V	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.L73V	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	123					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.L123V(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						CTTGTAGAATCTCAACTTTGA	0.433																																						uc001sgc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(367-369)CTC>GTC		NCK-associated protein 1-like							209.0	191.0	197.0					12																	54902176		2203	4300	6503	SO:0001583	missense	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.chr12:54902176C>G	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.367C>G	12.37:g.54902176C>G	ENSP00000293373:p.Leu123Val					NCKAP1L_uc010sox.1_Translation_Start_Site|NCKAP1L_uc010soy.1_Missense_Mutation_p.L73V	p.L123V	NM_005337	NP_005328	P55160	NCKPL_HUMAN			5	446	+			123					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.367C>G	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	3.260	-0.151370	0.06585	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.32988	1.43;1.43	5.95	4.08	0.47627	.	0.334756	0.29459	N	0.012085	T	0.11793	0.0287	N	0.03948	-0.315	0.36453	D	0.866237	B	0.06786	0.001	B	0.11329	0.006	T	0.15809	-1.0424	10	0.06625	T	0.88	-8.9701	9.9004	0.41344	0.147:0.5687:0.2843:0.0	.	123	P55160	NCKPL_HUMAN	V	123;73	ENSP00000293373:L123V;ENSP00000445596:L73V	ENSP00000293373:L123V	L	+	1	0	NCKAP1L	53188443	0.711000	0.27906	0.974000	0.42286	0.957000	0.61999	0.981000	0.29526	0.798000	0.33994	0.650000	0.86243	CTC		PASS	0.433	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		54	578	54	578	---	---	---	---
MMP19	4327	broad.mit.edu	37	12	56233310	56233310	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:56233310C>G	ENST00000322569.4	-	5	827	c.736G>C	c.(736-738)Gat>Cat	p.D246H	MMP19_ENST00000548629.1_Missense_Mutation_p.D223H|MMP19_ENST00000547487.1_5'Flank|MMP19_ENST00000394182.1_5'Flank|MMP19_ENST00000409200.3_Intron	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	246					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D246H(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	GCCACATCATCTGGGTGCAGC	0.607																																						uc001sib.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(736-738)GAT>CAT		matrix metalloproteinase 19 isoform rasi-1							56.0	50.0	52.0					12																	56233310		2203	4300	6503	SO:0001583	missense	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56233310C>G	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.736G>C	12.37:g.56233310C>G	ENSP00000313437:p.Asp246His					MMP19_uc001sia.2_5'UTR|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_Intron	p.D246H	NM_002429	NP_002420	Q99542	MMP19_HUMAN			5	857	-			246					B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	c.736G>C	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537830	0.65085	.	.	ENSG00000123342	ENST00000322569;ENST00000548629	T;T	0.35048	1.33;1.33	5.75	5.75	0.90469	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73187	0.3555	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81879	-0.0730	10	0.87932	D	0	.	17.4302	0.87537	0.0:1.0:0.0:0.0	.	246	Q99542	MMP19_HUMAN	H	246;223	ENSP00000313437:D246H;ENSP00000446979:D223H	ENSP00000313437:D246H	D	-	1	0	MMP19	54519577	1.000000	0.71417	0.963000	0.40424	0.135000	0.20990	7.414000	0.80117	2.721000	0.93114	0.511000	0.50034	GAT		PASS	0.607	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		12	87	12	87	---	---	---	---
RAB5B	5869	broad.mit.edu	37	12	56384536	56384536	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:56384536C>T	ENST00000360299.5	+	4	607	c.386C>T	c.(385-387)gCc>gTc	p.A129V	RAB5B_ENST00000553116.1_Missense_Mutation_p.A129V|RAB5B_ENST00000448789.2_Intron	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	129					antigen processing and presentation (GO:0019882)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)	p.A129V(1)		endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			ATCGTTATTGCCCTGGCAGGG	0.512																																						uc001siv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(385-387)GCC>GTC		RAB5B, member RAS oncogene family							143.0	130.0	134.0					12																	56384536		2203	4300	6503	SO:0001583	missense	5869				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	g.chr12:56384536C>T		CCDS8900.1, CCDS58244.1	12q13	2008-07-30						"""RAB, member RAS oncogene"""	9784	protein-coding gene	gene with protein product		179514				1541686, 10403367	Standard	NM_001252037		Approved		uc001siw.3	P61020		ENST00000360299.5:c.386C>T	12.37:g.56384536C>T	ENSP00000353444:p.Ala129Val					RAB5B_uc001siw.2_Missense_Mutation_p.A129V|RAB5B_uc009zog.2_Missense_Mutation_p.A69V|RAB5B_uc010spz.1_Intron	p.A129V	NM_002868	NP_002859	P61020	RAB5B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		4	503	+			129					A8K982|B4DKD7|P35239|P35277|Q6PIK9|Q86TH0|Q8IXL2	Missense_Mutation	SNP	ENST00000360299.5	37	c.386C>T	CCDS8900.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080991	0.94050	.	.	ENSG00000111540	ENST00000553116;ENST00000360299	T;T	0.76578	-1.03;-1.03	4.46	4.46	0.54185	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000018	T	0.60470	0.2271	N	0.04335	-0.225	0.80722	D	1	B;B	0.26672	0.156;0.156	B;B	0.26202	0.067;0.067	T	0.64537	-0.6384	10	0.72032	D	0.01	-6.6374	16.4197	0.83754	0.0:1.0:0.0:0.0	.	129;129	Q6FI54;P61020	.;RAB5B_HUMAN	V	129	ENSP00000450168:A129V;ENSP00000353444:A129V	ENSP00000353444:A129V	A	+	2	0	RAB5B	54670803	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.609000	0.82925	2.488000	0.83962	0.460000	0.39030	GCC		PASS	0.512	RAB5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405396.1			5	295	5	295	---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56527954	56527954	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:56527954C>G	ENST00000394048.5	+	14	1798	c.1534C>G	c.(1534-1536)Cag>Gag	p.Q512E	ESYT1_ENST00000267113.4_Missense_Mutation_p.Q522E|ESYT1_ENST00000541590.1_Missense_Mutation_p.Q522E	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	512	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.Q512E(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GGATGTGACTCAGGAGAGCAA	0.517																																						uc001sjq.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1534-1536)CAG>GAG		extended synaptotagmin-like protein 1							102.0	86.0	92.0					12																	56527954		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56527954C>G	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1534C>G	12.37:g.56527954C>G	ENSP00000377612:p.Gln512Glu					ESYT1_uc001sjr.2_Missense_Mutation_p.Q522E	p.Q512E	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN			14	1584	+			512			C2 2.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.1534C>G	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443388	0.43429	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.69926	-0.44;-0.44;-0.44	5.28	5.28	0.74379	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.590596	0.19252	N	0.118884	T	0.56247	0.1972	L	0.28054	0.825	0.27054	N	0.963703	B;B	0.24675	0.109;0.099	B;B	0.26969	0.075;0.056	T	0.41805	-0.9488	10	0.21540	T	0.41	-8.2802	18.0573	0.89367	0.0:1.0:0.0:0.0	.	522;512	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	E	512;466;522;522	ENSP00000377612:Q512E;ENSP00000267113:Q522E;ENSP00000445952:Q522E	ENSP00000267113:Q522E	Q	+	1	0	ESYT1	54814221	0.139000	0.22563	1.000000	0.80357	0.998000	0.95712	2.806000	0.47947	2.640000	0.89533	0.655000	0.94253	CAG		PASS	0.517	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		19	91	19	91	---	---	---	---
RNF41	10193	broad.mit.edu	37	12	56600432	56600432	+	Missense_Mutation	SNP	G	G	T	rs202187350		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:56600432G>T	ENST00000345093.4	-	7	1122	c.753C>A	c.(751-753)caC>caA	p.H251Q	RNF41_ENST00000552656.1_Missense_Mutation_p.H251Q|RNF41_ENST00000394013.2_Missense_Mutation_p.H180Q	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	251					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H251Q(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						AGCTACGCTCGTGGGCATTTT	0.562											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001skf.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(751-753)CAC>CAA		ring finger protein 41 isoform 1							100.0	83.0	88.0					12																	56600432		2203	4300	6503	SO:0001583	missense	10193				apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:56600432G>T	AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"""RING-type (C3HC4) zinc fingers"""	18401	protein-coding gene	gene with protein product			"""ring finger protein 41"""				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.753C>A	12.37:g.56600432G>T	ENSP00000342755:p.His251Gln		OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1016	RNF41_uc001ske.1_Missense_Mutation_p.H180Q|RNF41_uc001skg.1_Missense_Mutation_p.H251Q|RNF41_uc010sqg.1_Missense_Mutation_p.H186Q|RNF41_uc010sqh.1_Missense_Mutation_p.H180Q	p.H251Q	NM_005785	NP_005776	Q9H4P4	RNF41_HUMAN			7	1122	-			251					A6NFW0|B2RBT8|O75598	Missense_Mutation	SNP	ENST00000345093.4	37	c.753C>A	CCDS8909.1	.	.	.	.	.	.	.	.	.	.	g	16.87	3.242613	0.58995	.	.	ENSG00000181852	ENST00000345093;ENST00000394013;ENST00000448057;ENST00000552656	T;T	0.10005	2.92;2.92	5.45	-10.9	0.00192	USP8 interacting (1);	0.092549	0.64402	D	0.000001	T	0.24431	0.0592	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78404	-0.2217	10	0.87932	D	0	-35.341	17.0972	0.86638	0.2795:0.0:0.6382:0.0823	.	238;251	B4E353;Q9H4P4	.;RNF41_HUMAN	Q	251;180;238;251	ENSP00000342755:H251Q;ENSP00000447303:H251Q	ENSP00000342755:H251Q	H	-	3	2	RNF41	54886699	0.008000	0.16893	0.062000	0.19696	0.951000	0.60555	-0.782000	0.04643	-3.480000	0.00155	-2.046000	0.00415	CAC		PASS	0.562	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408525.1	NM_005785		25	105	25	105	---	---	---	---
GLS2	27165	broad.mit.edu	37	12	56869734	56869734	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:56869734C>G	ENST00000311966.4	-	8	1143	c.865G>C	c.(865-867)Gat>Cat	p.D289H	GLS2_ENST00000476991.1_5'UTR	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	289					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)	p.D289H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	CTTACAAAATCAAACTTCTCT	0.502																																						uc001slj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(865-867)GAT>CAT		glutaminase 2 precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						106.0	98.0	101.0					12																	56869734		2203	4300	6503	SO:0001583	missense	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56869734C>G		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.865G>C	12.37:g.56869734C>G	ENSP00000310447:p.Asp289His					GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Missense_Mutation_p.D24H|GLS2_uc009zot.2_Intron	p.D289H	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN			8	1144	-			289					B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Missense_Mutation	SNP	ENST00000311966.4	37	c.865G>C	CCDS8921.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.830838|4.830838	0.91036|0.91036	.|.	.|.	ENSG00000135423|ENSG00000135423	ENST00000311966|ENST00000461077	T|.	0.48201|.	0.82|.	5.04|5.04	5.04|5.04	0.67666|0.67666	Beta-lactamase/transpeptidase-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77068|0.77068	0.4076|0.4076	M|M	0.74546|0.74546	2.27|2.27	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.74348|.	0.983|.	T|T	0.79598|0.79598	-0.1737|-0.1737	10|6	0.87932|0.87932	D|D	0|0	-0.5382|-0.5382	17.6965|17.6965	0.88282|0.88282	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	289|.	Q9UI32|.	GLSL_HUMAN|.	H|F	289|144	ENSP00000310447:D289H|.	ENSP00000310447:D289H|ENSP00000417244:L144F	D|L	-|-	1|3	0|2	GLS2|GLS2	55156001|55156001	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	6.173000|6.173000	0.71937|0.71937	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GAT|TTG		PASS	0.502	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		4	91	4	91	---	---	---	---
MARS	4141	broad.mit.edu	37	12	57884123	57884123	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:57884123C>G	ENST00000262027.5	+	6	758	c.624C>G	c.(622-624)ccC>ccG	p.P208P	MARS_ENST00000447721.2_3'UTR|ARHGAP9_ENST00000550288.1_5'Flank|MARS_ENST00000315473.5_5'UTR|ARHGAP9_ENST00000393797.2_5'Flank	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	208					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)	p.P208P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	AGCCCCAGCCCAGCCCCGCTG	0.592																																						uc001sog.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(622-624)CCC>CCG		methionyl-tRNA synthetase	L-Methionine(DB00134)						84.0	95.0	91.0					12																	57884123		2203	4300	6503	SO:0001819	synonymous_variant	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57884123C>G	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.624C>G	12.37:g.57884123C>G						ARHGAP9_uc001sod.2_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_RNA|MARS_uc010srp.1_Silent_p.P81P|MARS_uc010srq.1_5'UTR	p.P208P	NM_004990	NP_004981	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		6	647	+			208					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Silent	SNP	ENST00000262027.5	37	c.624C>G	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	C	8.942	0.966009	0.18659	.	.	ENSG00000166986	ENST00000552371	.	.	.	4.43	1.41	0.22369	.	0.315564	0.28589	N	0.014804	T	0.62332	0.2419	.	.	.	0.52099	D	0.999942	.	.	.	.	.	.	T	0.60616	-0.7228	6	0.62326	D	0.03	-4.5296	8.1935	0.31383	0.0:0.6302:0.0:0.3698	.	.	.	.	R	80	.	ENSP00000447914:P80R	P	+	2	0	MARS	56170390	0.004000	0.15560	0.293000	0.24932	0.849000	0.48306	-0.062000	0.11674	0.172000	0.19760	0.514000	0.50259	CCA		PASS	0.592	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		21	376	21	376	---	---	---	---
MON2	23041	broad.mit.edu	37	12	62954271	62954271	+	Splice_Site	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:62954271G>A	ENST00000393632.2	+	26	3801	c.3410G>A	c.(3409-3411)gGa>gAa	p.G1137E	MON2_ENST00000393629.2_Splice_Site_p.G1137E|MON2_ENST00000552738.1_Splice_Site_p.G1114E|MON2_ENST00000393630.3_Splice_Site_p.G1138E|MON2_ENST00000280379.6_Splice_Site_p.G1138E|MON2_ENST00000546600.1_Splice_Site_p.G1137E	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1137					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.G1137E(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CCTAATATAGGAGATTTTTCA	0.338																																						uc001sre.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(3409-3411)GGA>GAA		MON2 homolog							59.0	67.0	65.0					12																	62954271		2200	4299	6499	SO:0001630	splice_region_variant	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62954271G>A		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3410-1G>A	12.37:g.62954271G>A						MON2_uc009zqj.2_Missense_Mutation_p.G1137E|MON2_uc010ssl.1_Missense_Mutation_p.G1065E|MON2_uc010ssm.1_Missense_Mutation_p.G1114E|MON2_uc010ssn.1_Missense_Mutation_p.G1137E|MON2_uc001srf.2_Missense_Mutation_p.G900E|MON2_uc001srg.2_Missense_Mutation_p.G12E	p.G1137E	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	26	3801	+			1138					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.3410G>A	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052500	0.75960	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.72366	0.3451	L	0.52759	1.655	0.80722	D	1	B;P;B;D;P	0.57899	0.264;0.532;0.216;0.981;0.708	B;B;B;P;P	0.53006	0.186;0.376;0.237;0.715;0.455	T	0.70722	-0.4794	9	.	.	.	.	19.2945	0.94117	0.0:0.0:1.0:0.0	.	1137;1114;1137;12;1137	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	E	1137;1138;1138;1137;1114;1137	ENSP00000377252:G1137E;ENSP00000377250:G1138E;ENSP00000280379:G1138E;ENSP00000447407:G1137E;ENSP00000449215:G1114E;ENSP00000377249:G1137E	.	G	+	2	0	MON2	61240538	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	9.813000	0.99286	2.643000	0.89663	0.650000	0.86243	GGA		PASS	0.338	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026	Missense_Mutation	28	193	28	193	---	---	---	---
MON2	23041	broad.mit.edu	37	12	62972245	62972245	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:62972245C>T	ENST00000393632.2	+	31	4926	c.4535C>T	c.(4534-4536)tCt>tTt	p.S1512F	MON2_ENST00000393629.2_Missense_Mutation_p.S1506F|MON2_ENST00000552738.1_Missense_Mutation_p.S1483F|MON2_ENST00000393630.3_Missense_Mutation_p.S1513F|MON2_ENST00000280379.6_Missense_Mutation_p.S1513F|MON2_ENST00000546600.1_Missense_Mutation_p.S1512F	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1512					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.S1512F(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GATAATCTCTCTATTCAAGAG	0.269																																						uc001sre.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(4534-4536)TCT>TTT		MON2 homolog							25.0	25.0	25.0					12																	62972245		2200	4280	6480	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62972245C>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.4535C>T	12.37:g.62972245C>T	ENSP00000377252:p.Ser1512Phe					MON2_uc009zqj.2_Missense_Mutation_p.S1512F|MON2_uc010ssl.1_Missense_Mutation_p.S1440F|MON2_uc010ssm.1_Missense_Mutation_p.S1483F|MON2_uc010ssn.1_Missense_Mutation_p.S1506F|MON2_uc001srf.2_Missense_Mutation_p.S1275F|MON2_uc001srg.2_Missense_Mutation_p.S381F	p.S1512F	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	31	4926	+			1513					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.4535C>T	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684960	0.88639	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.59364	0.28;0.28;0.28;0.28;0.27;0.27	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D	0.76494	0.995;0.989;0.995;0.999;0.997	P;P;P;D;P	0.76071	0.812;0.908;0.908;0.987;0.908	T	0.67530	-0.5647	9	.	.	.	-19.1988	19.7297	0.96177	0.0:1.0:0.0:0.0	.	1506;1483;1512;381;1512	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	F	1512;1513;1513;1512;1483;1506	ENSP00000377252:S1512F;ENSP00000377250:S1513F;ENSP00000280379:S1513F;ENSP00000447407:S1512F;ENSP00000449215:S1483F;ENSP00000377249:S1506F	.	S	+	2	0	MON2	61258512	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.536000	0.82023	2.658000	0.90341	0.650000	0.86243	TCT		PASS	0.269	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		5	53	5	53	---	---	---	---
MYF5	4617	broad.mit.edu	37	12	81111108	81111108	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:81111108C>G	ENST00000228644.3	+	1	418	c.266C>G	c.(265-267)aCt>aGt	p.T89S		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	89	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.T89S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AAGGCAGCCACTATGCGCGAG	0.627																																						uc001szg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(265-267)ACT>AGT		myogenic factor 5							43.0	39.0	41.0					12																	81111108		2202	4297	6499	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111108C>G		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.266C>G	12.37:g.81111108C>G	ENSP00000228644:p.Thr89Ser						p.T89S	NM_005593	NP_005584	P13349	MYF5_HUMAN			1	401	+			89			Basic motif.		Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.266C>G	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.049011	0.93740	.	.	ENSG00000111049	ENST00000228644	D	0.97752	-4.52	6.06	6.06	0.98353	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	L	0.46741	1.465	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99211	1.0876	10	0.87932	D	0	-13.4126	20.6208	0.99490	0.0:1.0:0.0:0.0	.	89	P13349	MYF5_HUMAN	S	89	ENSP00000228644:T89S	ENSP00000228644:T89S	T	+	2	0	MYF5	79635239	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.487000	0.81328	2.882000	0.98803	0.655000	0.94253	ACT		PASS	0.627	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		3	36	3	36	---	---	---	---
SLC6A15	55117	broad.mit.edu	37	12	85255544	85255544	+	Missense_Mutation	SNP	G	G	C	rs141349631		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:85255544G>C	ENST00000266682.5	-	12	2601	c.2060C>G	c.(2059-2061)tCt>tGt	p.S687C	SLC6A15_ENST00000552192.1_Missense_Mutation_p.S580C|SLC6A15_ENST00000309283.7_3'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	687					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.S687C(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AAAATTTGGAGATGGCATCTC	0.448																																						uc001szv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(2059-2061)TCT>TGT		solute carrier family 6, member 15 isoform 1							117.0	113.0	114.0					12																	85255544		2203	4300	6503	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85255544G>C	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.2060C>G	12.37:g.85255544G>C	ENSP00000266682:p.Ser687Cys					SLC6A15_uc010sul.1_Missense_Mutation_p.S580C|SLC6A15_uc001szw.1_3'UTR	p.S687C	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			12	2553	-			687			Cytoplasmic (Potential).		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.2060C>G	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753653	0.69648	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000548267	T;T	0.78246	-0.99;-1.16	5.85	5.85	0.93711	.	0.946005	0.08984	N	0.865328	D	0.86777	0.6014	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.79713	-0.1688	10	0.28530	T	0.3	.	20.1649	0.98147	0.0:0.0:1.0:0.0	.	687	Q9H2J7	S6A15_HUMAN	C	687;580;165	ENSP00000266682:S687C;ENSP00000450145:S580C	ENSP00000266682:S687C	S	-	2	0	SLC6A15	83779675	1.000000	0.71417	0.999000	0.59377	0.704000	0.40688	9.315000	0.96313	2.753000	0.94483	0.655000	0.94253	TCT		PASS	0.448	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		47	244	47	244	---	---	---	---
C12orf50	160419	broad.mit.edu	37	12	88390363	88390363	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:88390363T>C	ENST00000298699.2	-	5	530	c.350A>G	c.(349-351)gAg>gGg	p.E117G	C12orf50_ENST00000550553.1_Missense_Mutation_p.E117G	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	117								p.E117G(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ATAACACATCTCCTTTATTGC	0.284																																						uc001tam.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(349-351)GAG>GGG		hypothetical protein LOC160419							92.0	97.0	95.0					12																	88390363		2203	4296	6499	SO:0001583	missense	160419							g.chr12:88390363T>C	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.350A>G	12.37:g.88390363T>C	ENSP00000298699:p.Glu117Gly					C12orf50_uc001tan.2_Missense_Mutation_p.E171G	p.E117G	NM_152589	NP_689802	Q8NA57	CL050_HUMAN			5	518	-			117					Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	c.350A>G	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.151059	0.57151	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.37752	1.18;1.21	5.18	3.95	0.45737	.	0.190235	0.36482	N	0.002568	T	0.48277	0.1491	M	0.75447	2.3	0.35357	D	0.787851	D;D	0.59767	0.975;0.986	P;P	0.53593	0.644;0.73	T	0.64245	-0.6453	10	0.66056	D	0.02	.	9.5686	0.39414	0.0:0.0:0.1764:0.8236	.	171;117	G3V208;Q8NA57	.;CL050_HUMAN	G	117;117;171	ENSP00000298699:E117G;ENSP00000448344:E117G	ENSP00000298699:E117G	E	-	2	0	C12orf50	86914494	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.983000	0.49345	1.938000	0.56188	0.460000	0.39030	GAG		PASS	0.284	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		29	98	29	98	---	---	---	---
C12orf50	160419	broad.mit.edu	37	12	88420369	88420369	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:88420369G>A	ENST00000298699.2	-	3	209	c.29C>T	c.(28-30)tCa>tTa	p.S10L	C12orf50_ENST00000546547.1_5'Flank|C12orf50_ENST00000550553.1_Missense_Mutation_p.S10L	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	10								p.S10L(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CCAGAAGCATGAAATGCTGCA	0.378																																						uc001tam.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(28-30)TCA>TTA		hypothetical protein LOC160419							90.0	87.0	88.0					12																	88420369		2203	4300	6503	SO:0001583	missense	160419							g.chr12:88420369G>A	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.29C>T	12.37:g.88420369G>A	ENSP00000298699:p.Ser10Leu					C12orf50_uc001tan.2_Missense_Mutation_p.S64L	p.S10L	NM_152589	NP_689802	Q8NA57	CL050_HUMAN			3	197	-			10					Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	c.29C>T	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132057	0.77662	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944;ENST00000551163	T;T	0.33654	1.4;1.41	5.72	5.72	0.89469	.	0.117945	0.38837	N	0.001554	T	0.45357	0.1338	N	0.16478	0.41	0.38236	D	0.94118	B;D	0.89917	0.241;1.0	B;D	0.83275	0.082;0.996	T	0.48614	-0.9020	10	0.44086	T	0.13	.	16.7818	0.85564	0.0:0.0:1.0:0.0	.	64;10	G3V208;Q8NA57	.;CL050_HUMAN	L	10;10;64;10	ENSP00000298699:S10L;ENSP00000448344:S10L	ENSP00000298699:S10L	S	-	2	0	C12orf50	86944500	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.835000	0.55805	2.686000	0.91538	0.563000	0.77884	TCA		PASS	0.378	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		29	72	29	72	---	---	---	---
PLXNC1	10154	broad.mit.edu	37	12	94543548	94543548	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:94543548C>G	ENST00000258526.4	+	1	1050	c.801C>G	c.(799-801)atC>atG	p.I267M		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	267	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.I267M(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGGCGCGCATCGCGCAGAGCA	0.682																																						uc001tdc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(799-801)ATC>ATG		plexin C1 precursor							29.0	33.0	32.0					12																	94543548		2139	4272	6411	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94543548C>G	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.801C>G	12.37:g.94543548C>G	ENSP00000258526:p.Ile267Met						p.I267M	NM_005761	NP_005752	O60486	PLXC1_HUMAN			1	1050	+			267			Extracellular (Potential).|Sema.		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.801C>G	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861036	0.32884	.	.	ENSG00000136040	ENST00000258526	T	0.07216	3.21	5.28	5.28	0.74379	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	1.959700	0.02137	N	0.056805	T	0.24547	0.0595	L	0.55834	1.745	0.80722	D	1	P	0.42409	0.779	P	0.51918	0.684	T	0.09952	-1.0651	10	0.21540	T	0.41	.	17.8819	0.88843	0.0:1.0:0.0:0.0	.	267	O60486	PLXC1_HUMAN	M	267	ENSP00000258526:I267M	ENSP00000258526:I267M	I	+	3	3	PLXNC1	93067679	0.998000	0.40836	1.000000	0.80357	0.978000	0.69477	1.802000	0.38853	2.465000	0.83290	0.561000	0.74099	ATC		PASS	0.682	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			5	36	5	36	---	---	---	---
PLXNC1	10154	broad.mit.edu	37	12	94575247	94575247	+	Nonsense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:94575247C>G	ENST00000258526.4	+	3	1478	c.1229C>G	c.(1228-1230)tCa>tGa	p.S410*	RP11-74K11.2_ENST00000550759.1_RNA	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	410	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.S410*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AATTTGACTTCAAATTGTCCA	0.299																																						uc001tdc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1228-1230)TCA>TGA		plexin C1 precursor							78.0	90.0	86.0					12																	94575247		2203	4300	6503	SO:0001587	stop_gained	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94575247C>G	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1229C>G	12.37:g.94575247C>G	ENSP00000258526:p.Ser410*						p.S410*	NM_005761	NP_005752	O60486	PLXC1_HUMAN			3	1478	+			410			Extracellular (Potential).|Sema.		Q59H25	Nonsense_Mutation	SNP	ENST00000258526.4	37	c.1229C>G	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	37	6.258504	0.97421	.	.	ENSG00000136040	ENST00000258526;ENST00000551850	.	.	.	5.93	5.93	0.95920	.	0.247257	0.39615	N	0.001320	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	17.2502	0.87040	0.0:1.0:0.0:0.0	.	.	.	.	X	410;26	.	ENSP00000258526:S410X	S	+	2	0	PLXNC1	93099378	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.413000	0.59795	2.818000	0.97014	0.591000	0.81541	TCA		PASS	0.299	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			23	188	23	188	---	---	---	---
NR1H4	9971	broad.mit.edu	37	12	100904848	100904848	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:100904848T>A	ENST00000551379.1	+	2	430	c.402T>A	c.(400-402)gaT>gaA	p.D134E	NR1H4_ENST00000188403.7_Missense_Mutation_p.D134E|NR1H4_ENST00000548884.1_Missense_Mutation_p.D124E|NR1H4_ENST00000549996.1_Missense_Mutation_p.D124E|NR1H4_ENST00000392986.3_Missense_Mutation_p.D124E			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	134					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D134E(1)|p.D124E(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TCAAAGGGGATGAGCTGTGTG	0.512																																						uc001tht.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|skin(1)	3						c.(400-402)GAT>GAA		nuclear receptor subfamily 1, group H, member 4							124.0	125.0	125.0					12																	100904848		2203	4300	6503	SO:0001583	missense	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100904848T>A	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.402T>A	12.37:g.100904848T>A	ENSP00000447149:p.Asp134Glu					NR1H4_uc001thp.1_Missense_Mutation_p.D124E|NR1H4_uc001thq.1_Missense_Mutation_p.D124E|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.D124E|NR1H4_uc010svk.1_Missense_Mutation_p.D124E|NR1H4_uc001ths.1_Missense_Mutation_p.D134E	p.D134E	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN			2	430	+			134			Nuclear receptor.		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	c.402T>A	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	T	7.256	0.604169	0.14002	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.92397	-2.96;-3.0;-3.03;-3.01;-2.96	5.9	-2.73	0.05950	Zinc finger, nuclear hormone receptor-type (2);	0.131998	0.64402	D	0.000002	T	0.68393	0.2996	N	0.01761	-0.735	0.47374	D	0.999401	B;B;B;B;B	0.13594	0.008;0.0;0.0;0.0;0.0	B;B;B;B;B	0.10450	0.005;0.003;0.001;0.001;0.001	T	0.61783	-0.6992	10	0.02654	T	1	.	3.8818	0.09082	0.16:0.4533:0.0987:0.288	.	124;134;134;124;124	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	E	124;124;124;134;134	ENSP00000448506:D124E;ENSP00000376712:D124E;ENSP00000448978:D124E;ENSP00000447149:D134E;ENSP00000188403:D134E	ENSP00000188403:D134E	D	+	3	2	NR1H4	99428979	0.908000	0.30866	0.993000	0.49108	0.996000	0.88848	0.001000	0.13038	-0.288000	0.09051	0.528000	0.53228	GAT		PASS	0.512	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		76	179	76	179	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101763603	101763603	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:101763603G>A	ENST00000261637.4	+	49	6663	c.6489G>A	c.(6487-6489)ctG>ctA	p.L2163L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2163					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.L2163L(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TCCTTCTGCTGAAGGACTATG	0.507																																						uc001tia.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)	4						c.(6487-6489)CTG>CTA		down-regulated in metastasis							129.0	137.0	134.0					12																	101763603		2203	4300	6503	SO:0001819	synonymous_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101763603G>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6489G>A	12.37:g.101763603G>A							p.L2163L	NM_014503	NP_055318	O75691	UTP20_HUMAN			49	6645	+			2163					Q9H3H4	Silent	SNP	ENST00000261637.4	37	c.6489G>A	CCDS9081.1																																																																																				PASS	0.507	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		50	275	50	275	---	---	---	---
CHPT1	56994	broad.mit.edu	37	12	102116979	102116979	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:102116979G>A	ENST00000229266.3	+	6	1049	c.814G>A	c.(814-816)Gga>Aga	p.G272R	CHPT1_ENST00000549872.1_Missense_Mutation_p.G272R	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	272					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)	p.G272R(1)		kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						ACTCCACATAGGACTAATTAT	0.348																																						uc001tin.2																			1	Substitution - Missense(1)		lung(1)		0						c.(814-816)GGA>AGA		choline phosphotransferase 1							128.0	131.0	130.0					12																	102116979		2203	4300	6503	SO:0001583	missense	56994				platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding	g.chr12:102116979G>A		CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"""phosphatidylcholine synthesizing enzyme"""					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.814G>A	12.37:g.102116979G>A	ENSP00000229266:p.Gly272Arg					CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Missense_Mutation_p.G272R	p.G272R	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN			6	1037	+			272			Helical; (Potential).		B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Missense_Mutation	SNP	ENST00000229266.3	37	c.814G>A	CCDS9086.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343860	0.61073	.	.	ENSG00000111666	ENST00000229266;ENST00000549872;ENST00000543999	T;T	0.46451	0.87;0.87	5.76	5.76	0.90799	.	0.049651	0.85682	D	0.000000	T	0.67942	0.2947	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.81914	0.995;0.954	T	0.63972	-0.6516	10	0.25106	T	0.35	-7.7548	19.5779	0.95452	0.0:0.0:1.0:0.0	.	272;272	F8W1B3;Q8WUD6	.;CHPT1_HUMAN	R	272;272;105	ENSP00000229266:G272R;ENSP00000448766:G272R	ENSP00000229266:G272R	G	+	1	0	CHPT1	100641110	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	7.475000	0.81041	2.709000	0.92574	0.655000	0.94253	GGA		PASS	0.348	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1	NM_020244		11	178	11	178	---	---	---	---
GNPTAB	79158	broad.mit.edu	37	12	102158651	102158651	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:102158651C>A	ENST00000299314.7	-	13	2306	c.2044G>T	c.(2044-2046)Gat>Tat	p.D682Y	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	682					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)	p.D682Y(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GAGTTAACATCATGTCTCTTA	0.413																																						uc001tit.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2044-2046)GAT>TAT		N-acetylglucosamine-1-phosphate transferase							56.0	58.0	57.0					12																	102158651		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158651C>A	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2044G>T	12.37:g.102158651C>A	ENSP00000299314:p.Asp682Tyr						p.D682Y	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN			13	2223	-			682					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.2044G>T	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	C	0.045	-1.268531	0.01433	.	.	ENSG00000111670	ENST00000299314	D	0.96265	-3.96	5.96	2.1	0.27182	.	0.939300	0.09084	N	0.850815	D	0.90539	0.7035	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.81048	-0.1109	10	0.51188	T	0.08	-5.2813	3.2602	0.06846	0.1054:0.3311:0.3662:0.1973	.	682	Q3T906	GNPTA_HUMAN	Y	682	ENSP00000299314:D682Y	ENSP00000299314:D682Y	D	-	1	0	GNPTAB	100682782	0.006000	0.16342	0.007000	0.13788	0.043000	0.13939	0.813000	0.27225	0.120000	0.18254	0.655000	0.94253	GAT		PASS	0.413	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			24	122	24	122	---	---	---	---
MAPKAPK5	8550	broad.mit.edu	37	12	112318306	112318306	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:112318306C>A	ENST00000551404.2	+	8	743	c.635C>A	c.(634-636)tCa>tAa	p.S212*	MAPKAPK5_ENST00000550735.2_Nonsense_Mutation_p.S212*			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.S212*(2)		endometrium(1)|lung(11)|ovary(1)	13						ATACCTACCTCACCGACGCCC	0.478																																						uc001tta.2																			2	Substitution - Nonsense(2)		lung(2)	lung(2)|ovary(1)	3						c.(634-636)TCA>TAA		MAP kinase-activated protein kinase 5 isoform 2							154.0	144.0	147.0					12																	112318306		1985	4155	6140	SO:0001587	stop_gained	8550				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity	g.chr12:112318306C>A	AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.635C>A	12.37:g.112318306C>A	ENSP00000449381:p.Ser212*					MAPKAPK5_uc001tsz.2_Nonsense_Mutation_p.S212*|MAPKAPK5_uc001ttb.2_Nonsense_Mutation_p.S145*	p.S212*	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN			8	894	+			212			Protein kinase.		B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Nonsense_Mutation	SNP	ENST00000551404.2	37	c.635C>A	CCDS44975.1	.	.	.	.	.	.	.	.	.	.	C	45	11.425750	0.99559	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000551404	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	.	.	.	X	212	.	ENSP00000202788:S212X	S	+	2	0	MAPKAPK5	110802689	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.854000	0.98071	0.655000	0.94253	TCA		PASS	0.478	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	NM_139078		34	71	34	71	---	---	---	---
RPH3A	22895	broad.mit.edu	37	12	113307575	113307575	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:113307575G>C	ENST00000389385.4	+	9	1119	c.622G>C	c.(622-624)Gat>Cat	p.D208H	RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.D208H|RPH3A_ENST00000447659.2_Missense_Mutation_p.D159H|RPH3A_ENST00000548866.1_Missense_Mutation_p.D159H|RPH3A_ENST00000415485.3_Missense_Mutation_p.D208H|RPH3A_ENST00000551052.1_Missense_Mutation_p.D204H|RPH3A_ENST00000543106.2_Missense_Mutation_p.D208H	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	208	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.D204H(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGACAGTGAAGATAGGAGGGG	0.463																																						uc010syl.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(622-624)GAT>CAT		rabphilin 3A homolog isoform 1							111.0	118.0	116.0					12																	113307575		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113307575G>C	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.622G>C	12.37:g.113307575G>C	ENSP00000374036:p.Asp208His					RPH3A_uc001ttz.2_Missense_Mutation_p.D208H|RPH3A_uc001tty.2_Missense_Mutation_p.D204H|RPH3A_uc009zwe.1_Missense_Mutation_p.D204H|RPH3A_uc010sym.1_Missense_Mutation_p.D159H|RPH3A_uc001tua.2_5'UTR	p.D208H	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	9	984	+			208			Pro-rich.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.622G>C	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731780	0.30684	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.61392	0.11;0.11;0.12;0.11;0.11;0.11;0.11	4.86	4.86	0.63082	.	0.640293	0.13753	N	0.365116	T	0.54334	0.1852	N	0.22421	0.69	0.27830	N	0.94147	P;B;B;B	0.47677	0.899;0.257;0.257;0.374	P;B;B;B	0.50617	0.646;0.143;0.143;0.277	T	0.49661	-0.8916	10	0.45353	T	0.12	.	13.7043	0.62629	0.0:0.0:1.0:0.0	.	159;208;208;204	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	H	208;208;159;204;208;159;208	ENSP00000440384:D208H;ENSP00000374036:D208H;ENSP00000413254:D159H;ENSP00000448297:D204H;ENSP00000405357:D208H;ENSP00000450347:D159H;ENSP00000408889:D208H	ENSP00000374036:D208H	D	+	1	0	RPH3A	111791958	0.997000	0.39634	0.962000	0.40283	0.208000	0.24298	4.459000	0.60102	2.709000	0.92574	0.655000	0.94253	GAT		PASS	0.463	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		50	135	50	135	---	---	---	---
RASAL1	8437	broad.mit.edu	37	12	113553030	113553030	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:113553030G>C	ENST00000261729.5	-	12	1358	c.1043C>G	c.(1042-1044)tCc>tGc	p.S348C	RASAL1_ENST00000548055.1_Missense_Mutation_p.S348C|RASAL1_ENST00000446861.3_Missense_Mutation_p.S348C|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000546530.1_Missense_Mutation_p.S348C			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	348	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.S348C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CATCGACTTGGATGCCAGGGA	0.582																																						uc001tum.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1042-1044)TCC>TGC		RAS protein activator like 1							199.0	200.0	199.0					12																	113553030		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113553030G>C	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1043C>G	12.37:g.113553030G>C	ENSP00000261729:p.Ser348Cys					RASAL1_uc010syp.1_Missense_Mutation_p.S348C|RASAL1_uc001tul.2_Missense_Mutation_p.S348C|RASAL1_uc001tun.1_Missense_Mutation_p.S348C|RASAL1_uc010syq.1_Missense_Mutation_p.S348C|RASAL1_uc001tuo.3_Missense_Mutation_p.S348C|RASAL1_uc010syr.1_Missense_Mutation_p.S348C	p.S348C	NM_004658	NP_004649	O95294	RASL1_HUMAN			12	1336	-			348			Ras-GAP.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.1043C>G	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	4.78	4.78	0.61160	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.057223	0.64402	D	0.000001	D	0.90827	0.7119	M	0.87547	2.89	0.52501	D	0.999952	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.85130	0.997;0.995;0.994;0.997;0.996;0.997;0.994	D	0.92671	0.6150	10	0.87932	D	0	.	16.5796	0.84711	0.0:0.0:1.0:0.0	.	348;348;348;360;348;348;348	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	C	348	ENSP00000450244:S348C;ENSP00000261729:S348C;ENSP00000395920:S348C;ENSP00000448510:S348C	ENSP00000261729:S348C	S	-	2	0	RASAL1	112037413	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.103000	0.94232	2.205000	0.71048	0.491000	0.48974	TCC		PASS	0.582	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		25	251	25	251	---	---	---	---
MED13L	23389	broad.mit.edu	37	12	116408434	116408434	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:116408434T>A	ENST00000281928.3	-	27	6238	c.6032A>T	c.(6031-6033)aAc>aTc	p.N2011I		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2011						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.N2011I(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ATTGGGGTAGTTGGCTGGAGC	0.498																																						uc001tvw.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(6031-6033)AAC>ATC		mediator complex subunit 13-like							190.0	159.0	170.0					12																	116408434		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116408434T>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.6032A>T	12.37:g.116408434T>A	ENSP00000281928:p.Asn2011Ile						p.N2011I	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	27	6087	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		2011					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.6032A>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.335902	0.81801	.	.	ENSG00000123066	ENST00000281928	D	0.83755	-1.76	5.55	5.55	0.83447	.	0.155184	0.64402	D	0.000017	D	0.83335	0.5232	L	0.43152	1.355	0.51233	D	0.999911	P	0.42203	0.773	P	0.47786	0.557	D	0.85005	0.0902	10	0.66056	D	0.02	.	15.8583	0.79000	0.0:0.0:0.0:1.0	.	2011	Q71F56	MD13L_HUMAN	I	2011	ENSP00000281928:N2011I	ENSP00000281928:N2011I	N	-	2	0	MED13L	114892817	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.713000	0.47194	2.326000	0.78906	0.533000	0.62120	AAC		PASS	0.498	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			23	202	23	202	---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117680494	117680494	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:117680494G>T	ENST00000338101.4	-	20	3085	c.3081C>A	c.(3079-3081)caC>caA	p.H1027Q	NOS1_ENST00000317775.6_Missense_Mutation_p.H993Q|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					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.H993Q(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)		CTCGCTTTTTGTGGACATTGG	0.512																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(2977-2979)CAC>CAA		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						115.0	114.0	114.0					12																	117680494		1903	4115	6018	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.chr12:117680494G>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.3081C>A	12.37:g.117680494G>T	ENSP00000337459:p.His1027Gln						p.H993Q	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	20	3665	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		993						Missense_Mutation	SNP	ENST00000338101.4	37	c.2979C>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609356	0.66558	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.66638	-0.22;-0.22	4.47	4.47	0.54385	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.80929	0.4718	M	0.84846	2.72	0.80722	D	1	D	0.61697	0.99	D	0.64506	0.926	D	0.83799	0.0235	10	0.72032	D	0.01	-35.3968	11.8681	0.52505	0.0847:0.0:0.9153:0.0	.	993	P29475	NOS1_HUMAN	Q	888;993;993;1027	ENSP00000320758:H993Q;ENSP00000337459:H1027Q	ENSP00000320758:H993Q	H	-	3	2	NOS1	116164877	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.845000	0.62853	2.290000	0.77057	0.460000	0.39030	CAC		PASS	0.512	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			15	74	15	74	---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120576213	120576213	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:120576213C>T	ENST00000300648.6	-	47	6175	c.6163G>A	c.(6163-6165)Gag>Aag	p.E2055K		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2055					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.E2055K(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACACCTCCTCGTCATCCTGC	0.532																																						uc001txo.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(6163-6165)GAG>AAG		GCN1 general control of amino-acid synthesis							138.0	154.0	149.0					12																	120576213		2155	4247	6402	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120576213C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.6163G>A	12.37:g.120576213C>T	ENSP00000300648:p.Glu2055Lys						p.E2055K	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			47	6176	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2055			HEAT 18.		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.6163G>A	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768988	0.49680	.	.	ENSG00000089154	ENST00000300648	T	0.66280	-0.2	5.77	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (1);	0.306724	0.35805	N	0.002969	T	0.51958	0.1705	L	0.34521	1.04	0.53005	D	0.999966	B	0.12630	0.006	B	0.09377	0.004	T	0.42832	-0.9428	10	0.31617	T	0.26	.	16.6473	0.85179	0.0:0.8704:0.1296:0.0	.	2055	Q92616	GCN1L_HUMAN	K	2055	ENSP00000300648:E2055K	ENSP00000300648:E2055K	E	-	1	0	GCN1L1	119060596	0.999000	0.42202	0.416000	0.26546	0.776000	0.43924	4.211000	0.58507	2.885000	0.99019	0.655000	0.94253	GAG		PASS	0.532	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			29	76	29	76	---	---	---	---
MORN3	283385	broad.mit.edu	37	12	122107252	122107252	+	Silent	SNP	C	C	T	rs201217554		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:122107252C>T	ENST00000355329.3	-	1	308	c.138G>A	c.(136-138)gtG>gtA	p.V46V		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	46						nucleus (GO:0005634)		p.V46V(1)		breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CACCGTGTTTCACGTTGTCCT	0.642											OREG0022205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001uax.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(136-138)GTG>GTA		MORN repeat containing 3							106.0	84.0	92.0					12																	122107252		2203	4300	6503	SO:0001819	synonymous_variant	283385							g.chr12:122107252C>T	BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.138G>A	12.37:g.122107252C>T			OREG0022205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1516	MORN3_uc001uay.2_RNA	p.V46V	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)	1	309	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		46			MORN 1.		Q86YQ9	Silent	SNP	ENST00000355329.3	37	c.138G>A	CCDS31917.1																																																																																				PASS	0.642	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	NM_173855		19	121	19	121	---	---	---	---
KNTC1	9735	broad.mit.edu	37	12	123042002	123042002	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:123042002G>C	ENST00000333479.7	+	17	1521	c.1344G>C	c.(1342-1344)caG>caC	p.Q448H	KNTC1_ENST00000450485.2_Missense_Mutation_p.Q411H	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	448					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.Q448H(2)		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)		CCAGTGAACAGACCGAATGGC	0.388																																						uc001ucv.2																			2	Substitution - Missense(2)	p.Q448H(1)	ovary(1)|lung(1)	ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(1342-1344)CAG>CAC		Rough Deal homolog, centromere/kinetochore							126.0	116.0	119.0					12																	123042002		1885	4124	6009	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.chr12:123042002G>C		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.1344G>C	12.37:g.123042002G>C	ENSP00000328236:p.Gln448His					KNTC1_uc010taf.1_Missense_Mutation_p.Q411H	p.Q448H	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)	17	1507	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		448					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.1344G>C	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	6.153	0.396422	0.11638	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.23552	1.9;2.48	5.74	0.806	0.18708	.	0.332014	0.32357	N	0.006218	T	0.22166	0.0534	L	0.51422	1.61	0.09310	N	0.999991	B;B	0.16603	0.009;0.018	B;B	0.16289	0.015;0.008	T	0.21895	-1.0232	10	0.48119	T	0.1	-0.5724	11.1589	0.48503	0.489:0.0:0.511:0.0	.	411;448	E7ES84;P50748	.;KNTC1_HUMAN	H	411;448	ENSP00000397992:Q411H;ENSP00000328236:Q448H	ENSP00000328236:Q448H	Q	+	3	2	KNTC1	121607955	0.235000	0.23794	0.012000	0.15200	0.099000	0.18886	0.309000	0.19332	0.165000	0.19558	-0.471000	0.05019	CAG		PASS	0.388	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			20	57	20	57	---	---	---	---
HCAR3	8843	broad.mit.edu	37	12	123201053	123201053	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:123201053T>A	ENST00000528880.2	-	1	386	c.232A>T	c.(232-234)Atc>Ttc	p.I78F	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	78					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I78F(3)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	GGCAGGCAGATGATCAGTAGA	0.522																																						uc001ucy.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)|skin(1)	2						c.(232-234)ATC>TTC		G protein-coupled receptor 109B	Mepenzolate(DB04843)|Niacin(DB00627)						58.0	58.0	58.0					12																	123201053		2203	4300	6503	SO:0001583	missense	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123201053T>A	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.232A>T	12.37:g.123201053T>A	ENSP00000436714:p.Ile78Phe					GPR81_uc001ucw.1_Intron	p.I78F	NM_006018	NP_006009	P49019	HCAR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	1	387	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		78			Helical; Name=2; (Potential).		A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	c.232A>T	CCDS53842.1	.	.	.	.	.	.	.	.	.	.	T	4.691	0.128398	0.08981	.	.	ENSG00000255398	ENST00000528880	T	0.37584	1.19	3.27	1.95	0.26073	.	.	.	.	.	T	0.23289	0.0563	L	0.38838	1.175	0.37688	D	0.92373	B	0.17038	0.02	B	0.20384	0.029	T	0.08889	-1.0700	9	0.16420	T	0.52	.	6.2062	0.20604	0.3536:0.0:0.0:0.6464	.	78	E9PI97	.	F	78	ENSP00000436714:I78F	ENSP00000436714:I78F	I	-	1	0	HCAR3	121767006	0.971000	0.33674	0.954000	0.39281	0.078000	0.17371	-0.007000	0.12810	1.246000	0.43901	0.155000	0.16302	ATC		PASS	0.522	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		3	41	3	41	---	---	---	---
MPHOSPH9	10198	broad.mit.edu	37	12	123645802	123645802	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:123645802C>T	ENST00000606320.1	-	22	3468	c.3262G>A	c.(3262-3264)Gaa>Aaa	p.E1088K	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E936K|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.E936K|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E1058K			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	1088						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E936K(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TTACACTGTTCGTAGCTAACT	0.418																																						uc001uel.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2806-2808)GAA>AAA		M-phase phosphoprotein 9							135.0	123.0	127.0					12																	123645802		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123645802C>T	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.3262G>A	12.37:g.123645802C>T	ENSP00000475489:p.Glu1088Lys					MPHOSPH9_uc010tal.1_Missense_Mutation_p.E390K|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Missense_Mutation_p.E390K	p.E936K	NM_022782	NP_073619	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	18	2913	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		936					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.2806G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.400298	0.96030	.	.	ENSG00000051825	ENST00000541603;ENST00000302349;ENST00000541076	T;T;T	0.50813	0.73;1.38;1.33	5.26	4.35	0.52113	.	0.291551	0.26193	N	0.025786	T	0.43919	0.1269	M	0.62723	1.935	0.09310	N	0.999996	P	0.46706	0.883	B	0.37091	0.241	T	0.46133	-0.9213	10	0.66056	D	0.02	-11.7372	13.781	0.63084	0.0:0.8464:0.1536:0.0	.	936	Q99550	MPP9_HUMAN	K	114;936;936	ENSP00000446362:E114K;ENSP00000303597:E936K;ENSP00000445859:E936K	ENSP00000303597:E936K	E	-	1	0	MPHOSPH9	122211755	0.019000	0.18553	0.009000	0.14445	0.990000	0.78478	1.579000	0.36536	1.185000	0.42971	0.563000	0.77884	GAA		PASS	0.418	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			7	245	7	245	---	---	---	---
MPHOSPH9	10198	broad.mit.edu	37	12	123645826	123645826	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:123645826C>G	ENST00000606320.1	-	22	3444	c.3238G>C	c.(3238-3240)Gag>Cag	p.E1080Q	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E928Q|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.E928Q|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E1050Q			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	1080						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E928Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TTATTCTTCTCCCAGGCTGTT	0.433																																						uc001uel.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2782-2784)GAG>CAG		M-phase phosphoprotein 9							141.0	129.0	133.0					12																	123645826		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123645826C>G	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.3238G>C	12.37:g.123645826C>G	ENSP00000475489:p.Glu1080Gln					MPHOSPH9_uc010tal.1_Missense_Mutation_p.E382Q|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Missense_Mutation_p.E382Q	p.E928Q	NM_022782	NP_073619	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	18	2889	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		928					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.2782G>C		.	.	.	.	.	.	.	.	.	.	C	23.2	4.388510	0.82902	.	.	ENSG00000051825	ENST00000541603;ENST00000302349;ENST00000541076	T;T;T	0.53423	0.62;1.19;1.3	5.47	5.47	0.80525	.	0.569188	0.16274	N	0.221630	T	0.59280	0.2182	M	0.64997	1.995	0.43313	D	0.995325	D	0.57571	0.98	P	0.55303	0.773	T	0.61068	-0.7137	10	0.72032	D	0.01	-7.9371	12.6465	0.56738	0.0:0.9245:0.0:0.0755	.	928	Q99550	MPP9_HUMAN	Q	106;928;928	ENSP00000446362:E106Q;ENSP00000303597:E928Q;ENSP00000445859:E928Q	ENSP00000303597:E928Q	E	-	1	0	MPHOSPH9	122211779	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	3.691000	0.54720	2.569000	0.86673	0.563000	0.77884	GAG		PASS	0.433	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			5	261	5	261	---	---	---	---
DHX37	57647	broad.mit.edu	37	12	125465293	125465293	+	Missense_Mutation	SNP	C	C	G	rs552765231		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:125465293C>G	ENST00000308736.2	-	4	579	c.481G>C	c.(481-483)Gag>Cag	p.E161Q	DHX37_ENST00000544745.1_5'Flank	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	161							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E161Q(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		tcctcctcctcctcAGCTGAG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		16503	0.0		0.0	False		,,,				2504	0.001					uc001ugy.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(481-483)GAG>CAG		DEAH (Asp-Glu-Ala-His) box polypeptide 37							22.0	22.0	22.0					12																	125465293		2193	4279	6472	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125465293C>G	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.481G>C	12.37:g.125465293C>G	ENSP00000311135:p.Glu161Gln						p.E161Q	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	4	580	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		161					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.481G>C	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	5.390	0.257155	0.10239	.	.	ENSG00000150990	ENST00000308736	T	0.09817	2.94	2.18	2.18	0.27775	.	.	.	.	.	T	0.13586	0.0329	M	0.69823	2.125	0.47994	D	0.99956	P	0.45531	0.86	B	0.43783	0.431	T	0.07927	-1.0747	9	0.26408	T	0.33	0.2037	7.9211	0.29846	0.0:1.0:0.0:0.0	.	161	Q8IY37	DHX37_HUMAN	Q	161	ENSP00000311135:E161Q	ENSP00000311135:E161Q	E	-	1	0	DHX37	124031246	0.999000	0.42202	0.458000	0.27068	0.066000	0.16364	3.542000	0.53625	1.534000	0.49203	0.650000	0.86243	GAG		PASS	0.667	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		4	7	4	7	---	---	---	---
GLT1D1	144423	broad.mit.edu	37	12	129467578	129467579	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:129467578_129467579GG>TT	ENST00000442111.2	+	12	1072_1073	c.984_985GG>TT	c.(982-987)gtGGaa>gtTTaa	p.E329*	GLT1D1_ENST00000542193.1_Nonsense_Mutation_p.E246*|GLT1D1_ENST00000281703.6_Nonsense_Mutation_p.E249*|GLT1D1_ENST00000537468.1_Nonsense_Mutation_p.E334*			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	329					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)	p.E249*(2)|p.V248V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CATGGCAGGTGGAAAGAGACAC	0.485																																						uc010tbh.1																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)		0						c.(997-999)GTG>GTT|c.(1000-1002)GAA>TAA		glycosyltransferase 1 domain containing 1																																				SO:0001587	stop_gained	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129467578G>T|g.chr12:129467579G>T		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	Exception_encountered	12.37:g.129467578_129467579delinsTT	ENSP00000394692:p.Glu329*					GLT1D1_uc001uhx.1_Silent_p.V248V|GLT1D1_uc001uhy.1_RNA|GLT1D1_uc001uhx.1_Nonsense_Mutation_p.E249*|GLT1D1_uc001uhy.1_RNA	p.V333V|p.E334*	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	13	1008|1009	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		328|329					Q86XG8	Silent|Nonsense_Mutation	SNP	ENST00000442111.2	37	c.999G>T|c.1000G>T																																																																																					PASS	0.485	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669		37	127|121	37	121	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129558466	129558466	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:129558466C>T	ENST00000422113.2	-	9	3580	c.3254G>A	c.(3253-3255)tGc>tAc	p.C1085Y	TMEM132D_ENST00000389441.4_Missense_Mutation_p.C623Y	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1085					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.C1085Y(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CAGCTCTTTGCAGTCCCCAGG	0.512																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(3253-3255)TGC>TAC		transmembrane protein 132D precursor							199.0	172.0	181.0					12																	129558466		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129558466C>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3254G>A	12.37:g.129558466C>T	ENSP00000408581:p.Cys1085Tyr					TMEM132D_uc001uia.2_Missense_Mutation_p.C623Y	p.C1085Y	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3582	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	1085			Cytoplasmic (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.3254G>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	9.356	1.066712	0.20067	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.09350	2.99;3.79	4.22	-1.76	0.08006	.	0.634660	0.15939	N	0.237271	T	0.08891	0.0220	L	0.56769	1.78	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.31081	-0.9956	9	.	.	.	-3.8108	4.8977	0.13759	0.1344:0.5269:0.0:0.3387	.	1085;623	Q14C87;Q14C87-2	T132D_HUMAN;.	Y	623;1085	ENSP00000374092:C623Y;ENSP00000408581:C1085Y	.	C	-	2	0	TMEM132D	128124419	0.012000	0.17670	0.000000	0.03702	0.033000	0.12548	1.594000	0.36697	-0.644000	0.05465	0.563000	0.77884	TGC		PASS	0.512	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		37	217	37	217	---	---	---	---
GPR133	283383	broad.mit.edu	37	12	131602941	131602941	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:131602941C>G	ENST00000261654.5	+	19	2612	c.2053C>G	c.(2053-2055)Ctg>Gtg	p.L685V	GPR133_ENST00000543617.1_Missense_Mutation_p.L204V|GPR133_ENST00000535015.1_Missense_Mutation_p.L717V|GPR133_ENST00000376682.4_Missense_Mutation_p.L371V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	685					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.L685V(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TTTTCCTCTTCTGATCTGCAT	0.483																																						uc001uit.3																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(3)|skin(2)	10						c.(2053-2055)CTG>GTG		G protein-coupled receptor 133 precursor							253.0	241.0	245.0					12																	131602941		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131602941C>G	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2053C>G	12.37:g.131602941C>G	ENSP00000261654:p.Leu685Val					GPR133_uc010tbm.1_Missense_Mutation_p.L717V|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Missense_Mutation_p.L204V|GPR133_uc009zyp.2_RNA	p.L685V	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	19	2612	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		685			Helical; Name=4; (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.2053C>G	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	C	1.713	-0.498490	0.04291	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	3.55	2.62	0.31277	GPCR, family 2-like (1);	0.426837	0.22148	N	0.063960	T	0.15739	0.0379	N	0.02721	-0.515	0.30352	N	0.784679	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.15484	0.013;0.005;0.009	T	0.26018	-1.0115	10	0.02654	T	1	.	11.0414	0.47833	0.0:0.4838:0.5161:0.0	.	717;204;685	B7ZLF7;Q6QNK2-3;Q6QNK2	.;.;GP133_HUMAN	V	685;717;371;204	ENSP00000261654:L685V;ENSP00000444425:L717V;ENSP00000365872:L371V;ENSP00000438021:L204V	ENSP00000261654:L685V	L	+	1	2	GPR133	130168894	0.448000	0.25681	0.396000	0.26296	0.045000	0.14185	0.525000	0.22956	1.012000	0.39366	0.561000	0.74099	CTG		PASS	0.483	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		38	200	38	200	---	---	---	---
NOC4L	79050	broad.mit.edu	37	12	132636740	132636740	+	Missense_Mutation	SNP	G	G	A	rs367698251		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:132636740G>A	ENST00000330579.1	+	14	1470	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	NOC4L_ENST00000538784.1_Missense_Mutation_p.E92K	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	477					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E477K(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CACGGCCTACGAGGTGCGGAA	0.652																																						uc001ujz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1429-1431)GAG>AAG		nucleolar complex associated 4 homolog		G	LYS/GLU	0,4384		0,0,2192	37.0	31.0	33.0		1429	3.7	0.1	12		33	1,8575	1.2+/-3.3	0,1,4287	no	missense	NOC4L	NM_024078.1	56	0,1,6479	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging	477/517	132636740	1,12959	2192	4288	6480	SO:0001583	missense	79050				rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr12:132636740G>A		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1429G>A	12.37:g.132636740G>A	ENSP00000328854:p.Glu477Lys						p.E477K	NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)	14	1470	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		477					Q8N2S5|Q96I14	Missense_Mutation	SNP	ENST00000330579.1	37	c.1429G>A	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490510	0.84962	0.0	1.17E-4	ENSG00000184967	ENST00000330579;ENST00000538784	T;T	0.37584	1.19;1.19	4.59	3.68	0.42216	.	0.117401	0.56097	D	0.000031	T	0.47728	0.1461	M	0.62723	1.935	0.47374	D	0.999404	D	0.71674	0.998	P	0.58660	0.843	T	0.38887	-0.9640	10	0.17369	T	0.5	-24.4497	12.5765	0.56367	0.0:0.1678:0.8322:0.0	.	477	Q9BVI4	NOC4L_HUMAN	K	477;92	ENSP00000328854:E477K;ENSP00000443336:E92K	ENSP00000328854:E477K	E	+	1	0	NOC4L	131202693	1.000000	0.71417	0.055000	0.19348	0.032000	0.12392	4.917000	0.63369	0.894000	0.36317	0.478000	0.44815	GAG		PASS	0.652	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		11	26	11	26	---	---	---	---
PARP4	143	broad.mit.edu	37	13	25067872	25067872	+	Splice_Site	SNP	C	C	T	rs200700795		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:25067872C>T	ENST00000381989.3	-	8	847		c.e8-1			NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4						cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.?(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CCAAAAGCAACTACAATAATA	0.428																																						uc001upl.2																			1	Unknown(1)		lung(1)	ovary(3)|skin(1)	4						c.e8-1		poly (ADP-ribose) polymerase family, member 4							70.0	64.0	66.0					13																	25067872		2203	4300	6503	SO:0001630	splice_region_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25067872C>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.742-1G>A	13.37:g.25067872C>T						PARP4_uc010tdc.1_Splice_Site_p.L248_splice	p.L248_splice	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	8	848	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)						O75903|Q14682|Q5QNZ9|Q9H1M6	Splice_Site	SNP	ENST00000381989.3	37	c.742_splice	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	c	10.12	1.262304	0.23051	.	.	ENSG00000102699	ENST00000381989	.	.	.	3.97	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9227	0.63942	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PARP4	23965872	1.000000	0.71417	0.977000	0.42913	0.167000	0.22549	5.155000	0.64900	2.198000	0.70561	0.643000	0.83706	.		PASS	0.428	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	Intron	7	165	7	165	---	---	---	---
MTMR6	9107	broad.mit.edu	37	13	25831403	25831403	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:25831403C>T	ENST00000381801.5	-	9	1787	c.1026G>A	c.(1024-1026)agG>agA	p.R342R	MTMR6_ENST00000482345.1_5'Flank|MTMR6_ENST00000540661.1_Silent_p.R342R	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	342	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.|Substrate binding. {ECO:0000250}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.R342R(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CCTGGGAAGTCCTATCCCAAC	0.393																																						uc001uqf.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1024-1026)AGG>AGA		myotubularin related protein 6							114.0	101.0	105.0					13																	25831403		2203	4300	6503	SO:0001819	synonymous_variant	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25831403C>T	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1026G>A	13.37:g.25831403C>T						MTMR6_uc001uqe.1_Silent_p.R342R	p.R342R	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	9	1345	-		Lung SC(185;0.0225)|Breast(139;0.0351)	342			Myotubularin phosphatase.|Substrate binding (By similarity).		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Silent	SNP	ENST00000381801.5	37	c.1026G>A	CCDS9313.1																																																																																				PASS	0.393	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		50	42	50	42	---	---	---	---
RNF6	6049	broad.mit.edu	37	13	26788682	26788682	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:26788682G>C	ENST00000381588.4	-	5	2089	c.1337C>G	c.(1336-1338)tCt>tGt	p.S446C	RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Missense_Mutation_p.S90C|RNF6_ENST00000346166.3_Missense_Mutation_p.S446C|RNF6_ENST00000381570.3_Missense_Mutation_p.S446C	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	446					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S446C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTCTAAACGAGAAATGGTTCG	0.443																																						uc001uqo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1336-1338)TCT>TGT		ring finger protein 6							100.0	101.0	100.0					13																	26788682		2203	4300	6503	SO:0001583	missense	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26788682G>C	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1337C>G	13.37:g.26788682G>C	ENSP00000371000:p.Ser446Cys					RNF6_uc001uqn.1_Intron|RNF6_uc010aak.2_Missense_Mutation_p.S446C|RNF6_uc001uqp.2_Missense_Mutation_p.S446C|RNF6_uc001uqq.2_Missense_Mutation_p.S446C|RNF6_uc010tdk.1_Missense_Mutation_p.S90C	p.S446C	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	1628	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	446					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	c.1337C>G	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761354	0.69763	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570;ENST00000399762	T;T;T;T	0.34667	1.84;1.84;1.84;1.35	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.67593	-0.5631	10	0.87932	D	0	-15.3233	17.3743	0.87387	0.0:0.0:1.0:0.0	.	90;446	B4DDP0;Q9Y252	.;RNF6_HUMAN	C	446;446;446;90	ENSP00000342121:S446C;ENSP00000371000:S446C;ENSP00000370982:S446C;ENSP00000382665:S90C	ENSP00000342121:S446C	S	-	2	0	RNF6	25686682	1.000000	0.71417	0.944000	0.38274	0.986000	0.74619	9.134000	0.94467	2.312000	0.78011	0.455000	0.32223	TCT		PASS	0.443	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		18	297	18	297	---	---	---	---
CDK8	1024	broad.mit.edu	37	13	26971323	26971323	+	Silent	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:26971323A>G	ENST00000381527.3	+	9	1397	c.894A>G	c.(892-894)gaA>gaG	p.E298E	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	298	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E298E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AGTATATGGAAAAACATAAAG	0.328																																						uc001uqr.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.(892-894)GAA>GAG		cyclin-dependent kinase 8							101.0	97.0	98.0					13																	26971323		2203	4300	6503	SO:0001819	synonymous_variant	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26971323A>G	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.894A>G	13.37:g.26971323A>G						CDK8_uc001uqs.1_Silent_p.E298E|CDK8_uc001uqt.1_Silent_p.E125E	p.E298E	NM_001260	NP_001251	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	9	920	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	298			Protein kinase.		Q5VUF3|Q6ISB5	Silent	SNP	ENST00000381527.3	37	c.894A>G	CCDS9317.1																																																																																				PASS	0.328	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			8	144	8	144	---	---	---	---
PAN3	255967	broad.mit.edu	37	13	28841288	28841288	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:28841288C>G	ENST00000380958.3	+	11	1782	c.1630C>G	c.(1630-1632)Caa>Gaa	p.Q544E	PAN3_ENST00000399613.1_Missense_Mutation_p.Q344E|PAN3_ENST00000282391.5_Missense_Mutation_p.Q232E	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit									p.Q344E(1)|p.Q544E(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GAAGAAAATTCAACACTCAAA	0.388																																						uc001urz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1192-1194)CAA>GAA		PABP1-dependent poly A-specific ribonuclease							136.0	131.0	133.0					13																	28841288		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28841288C>G	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1630C>G	13.37:g.28841288C>G	ENSP00000370345:p.Gln544Glu					PAN3_uc010tdo.1_Missense_Mutation_p.Q544E|PAN3_uc001ury.2_Missense_Mutation_p.Q232E|PAN3_uc001urx.2_Missense_Mutation_p.Q344E	p.Q398E	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	10	1200	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	544			Protein kinase.|Interaction with PAN2.			Missense_Mutation	SNP	ENST00000380958.3	37	c.1192C>G	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981599	0.74474	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.19806	2.12;2.12;2.12	5.56	5.56	0.83823	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051311	0.85682	D	0.000000	T	0.30008	0.0751	L	0.42245	1.32	0.80722	D	1	P;P;P;P	0.51653	0.947;0.94;0.811;0.859	P;P;P;P	0.54924	0.754;0.546;0.764;0.554	T	0.01706	-1.1291	10	0.06099	T	0.92	-6.9616	19.5331	0.95237	0.0:1.0:0.0:0.0	.	544;544;232;490	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	E	544;344;232	ENSP00000370345:Q544E;ENSP00000382522:Q344E;ENSP00000282391:Q232E	ENSP00000282391:Q232E	Q	+	1	0	PAN3	27739288	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	7.818000	0.86416	2.626000	0.88956	0.650000	0.86243	CAA		PASS	0.388	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		12	280	12	280	---	---	---	---
FLT1	2321	broad.mit.edu	37	13	29001395	29001395	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:29001395A>T	ENST00000282397.4	-	10	1588	c.1337T>A	c.(1336-1338)cTg>cAg	p.L446Q	FLT1_ENST00000541932.1_Missense_Mutation_p.L446Q|FLT1_ENST00000539099.1_Missense_Mutation_p.L446Q	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	446	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.L446Q(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTGCTGCCCAGTGGGTAGAG	0.502																																						uc001usb.3																			2	Substitution - Missense(2)		lung(2)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(1336-1338)CTG>CAG		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						142.0	121.0	128.0					13																	29001395		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29001395A>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1337T>A	13.37:g.29001395A>T	ENSP00000282397:p.Leu446Gln					FLT1_uc010aar.1_Missense_Mutation_p.L446Q|FLT1_uc001usc.3_Missense_Mutation_p.L446Q|FLT1_uc010tdp.1_Missense_Mutation_p.L446Q	p.L446Q	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	10	1622	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	446			Ig-like C2-type 5.|Extracellular (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1337T>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.514788	0.44763	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.37411	1.2;2.74;1.49	5.9	5.9	0.94986	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.372796	0.25154	N	0.032736	T	0.54532	0.1864	M	0.68952	2.095	0.47153	D	0.999335	D;D;D;D	0.63880	0.993;0.993;0.993;0.96	D;D;D;P	0.66351	0.943;0.943;0.943;0.832	T	0.49495	-0.8934	10	0.11485	T	0.65	.	16.3291	0.83001	1.0:0.0:0.0:0.0	.	446;446;446;446	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	Q	446	ENSP00000282397:L446Q;ENSP00000437631:L446Q;ENSP00000442630:L446Q	ENSP00000282397:L446Q	L	-	2	0	FLT1	27899395	1.000000	0.71417	0.948000	0.38648	0.020000	0.10135	5.687000	0.68219	2.257000	0.74773	0.528000	0.53228	CTG		PASS	0.502	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			93	86	93	86	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32786485	32786485	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:32786485G>A	ENST00000380250.3	+	35	5144	c.4648G>A	c.(4648-4650)Gag>Aag	p.E1550K		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1550						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.E1550K(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCCAGATGCTGAGGAGAACAA	0.373																																						uc001utx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(4648-4650)GAG>AAG		furry homolog							71.0	67.0	68.0					13																	32786485		1859	4090	5949	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32786485G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4648G>A	13.37:g.32786485G>A	ENSP00000369600:p.Glu1550Lys					FRY_uc010tdw.1_RNA	p.E1550K	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	35	5144	+		Lung SC(185;0.0271)	1550					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.4648G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646693	0.67358	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.21734	1.99	5.9	5.9	0.94986	.	0.050969	0.85682	D	0.000000	T	0.24928	0.0605	L	0.46157	1.445	0.80722	D	1	B	0.30146	0.27	B	0.38755	0.281	T	0.03259	-1.1055	10	0.02654	T	1	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	1550	Q5TBA9	FRY_HUMAN	K	1550;387	ENSP00000369600:E1550K	ENSP00000369600:E1550K	E	+	1	0	FRY	31684485	1.000000	0.71417	0.964000	0.40570	0.994000	0.84299	9.090000	0.94144	2.788000	0.95919	0.650000	0.86243	GAG		PASS	0.373	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		20	21	20	21	---	---	---	---
LHFP	10186	broad.mit.edu	37	13	40175055	40175055	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:40175055G>A	ENST00000379589.3	-	2	761	c.299C>T	c.(298-300)gCg>gTg	p.A100V	LHFP_ENST00000495922.1_5'Flank	NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	100						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.A100V(1)	HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		GGCAGTGAGCGCCACCAGGAG	0.587			T	HMGA2	lipoma																																	uc001uxf.2				Dom	yes		13	13q12	10186	T	lipoma HMGIC fusion partner			M	HMGA2		lipoma	HMGA2/LHFP(2)	1	Substitution - Missense(1)		lung(1)	soft_tissue(2)|lung(1)|breast(1)	4						c.(298-300)GCG>GTG		lipoma HMGIC fusion partner precursor							131.0	127.0	128.0					13																	40175055		2203	4300	6503	SO:0001583	missense	10186					integral to membrane	DNA binding	g.chr13:40175055G>A	AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.299C>T	13.37:g.40175055G>A	ENSP00000368908:p.Ala100Val						p.A100V	NM_005780	NP_005771	Q9Y693	LHFP_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)	2	810	-		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)	100			Helical; (Potential).		B2R7M2|Q53FC0|Q96SH5	Missense_Mutation	SNP	ENST00000379589.3	37	c.299C>T	CCDS9369.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195467	0.58126	.	.	ENSG00000183722	ENST00000379589	T	0.71461	-0.57	5.38	4.53	0.55603	.	0.078124	0.52532	N	0.000062	T	0.81987	0.4939	M	0.69523	2.12	0.46458	D	0.999052	D	0.89917	1.0	D	0.69142	0.962	T	0.82575	-0.0389	9	.	.	.	.	15.1697	0.72862	0.0:0.1418:0.8582:0.0	.	100	Q9Y693	LHFP_HUMAN	V	100	ENSP00000368908:A100V	.	A	-	2	0	LHFP	39073055	1.000000	0.71417	0.946000	0.38457	0.120000	0.20174	6.187000	0.72039	1.250000	0.43966	-0.176000	0.13171	GCG		PASS	0.587	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780		10	253	10	253	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41706348	41706348	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:41706348G>C	ENST00000379485.1	-	1	534	c.300C>G	c.(298-300)ttC>ttG	p.F100L	KBTBD6_ENST00000499385.2_Intron	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	100	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.							p.F100L(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TGCCACCTGTGAACATGCTCT	0.632																																						uc001uxu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(298-300)TTC>TTG		kelch repeat and BTB (POZ) domain-containing 6							64.0	51.0	56.0					13																	41706348		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41706348G>C	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.300C>G	13.37:g.41706348G>C	ENSP00000368799:p.Phe100Leu					KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Intron|uc001uxv.1_5'Flank	p.F100L	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	589	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	100			BTB.		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.300C>G	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	19.07	3.756411	0.69648	.	.	ENSG00000165572	ENST00000379485	T	0.72835	-0.69	3.59	3.59	0.41128	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.80210	0.4581	L	0.60957	1.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82502	-0.0425	10	0.87932	D	0	.	13.0584	0.58994	0.0:0.0:1.0:0.0	.	100	Q86V97	KBTB6_HUMAN	L	100	ENSP00000368799:F100L	ENSP00000368799:F100L	F	-	3	2	KBTBD6	40604348	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	5.889000	0.69766	2.024000	0.59613	0.313000	0.20887	TTC		PASS	0.632	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		7	84	7	84	---	---	---	---
MTRF1	9617	broad.mit.edu	37	13	41826881	41826881	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:41826881G>A	ENST00000379480.4	-	5	697	c.597C>T	c.(595-597)atC>atT	p.I199I	MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000379477.1_Silent_p.I199I|MTRF1_ENST00000430347.2_Silent_p.I212I	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	199					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)	p.I199I(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		ATTGTTGGCAGATGTCACCTA	0.333																																						uc001uxx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(595-597)ATC>ATT		mitochondrial translational release factor 1							55.0	52.0	53.0					13																	41826881		2202	4299	6501	SO:0001819	synonymous_variant	9617				regulation of translational termination	mitochondrion	translation release factor activity, codon specific	g.chr13:41826881G>A	AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"""mitochontrial peptide chain release factor 1"""	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.597C>T	13.37:g.41826881G>A						MTRF1_uc001uxy.2_Silent_p.I199I|MTRF1_uc001uxz.2_Silent_p.I35I|MTRF1_uc010tff.1_Silent_p.I212I|MTRF1_uc001uyc.1_Silent_p.I199I	p.I199I	NM_004294	NP_004285	O75570	RF1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)	7	1067	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)	199					B4DG01|Q5T6Y5|Q8IUQ6	Silent	SNP	ENST00000379480.4	37	c.597C>T	CCDS9378.1																																																																																				PASS	0.333	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044666.3	NM_004294		9	105	9	105	---	---	---	---
FAM216B	144809	broad.mit.edu	37	13	43362793	43362793	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:43362793C>T	ENST00000537894.1	+	4	410	c.287C>T	c.(286-288)tCa>tTa	p.S96L	FAM216B_ENST00000313851.1_Missense_Mutation_p.S96L	NM_182508.2	NP_872314.1	Q8N7L0	F216B_HUMAN	family with sequence similarity 216, member B	96								p.S96L(1)									AAGAGAGCCTCAGCCAAGGTA	0.448																																						uc010tfk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(286-288)TCA>TTA		hypothetical protein LOC144809							111.0	103.0	106.0					13																	43362793		2203	4300	6503	SO:0001583	missense	144809							g.chr13:43362793C>T	AK098238	CCDS9386.1	13q14.11	2012-02-07	2012-02-07	2012-02-07	ENSG00000179813	ENSG00000179813			26883	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 30"""	C13orf30			Standard	NM_182508		Approved	FLJ40919	uc010tfk.2	Q8N7L0	OTTHUMG00000016809	ENST00000537894.1:c.287C>T	13.37:g.43362793C>T	ENSP00000445786:p.Ser96Leu					C13orf30_uc010tfl.1_Missense_Mutation_p.S96L	p.S96L	NM_182508	NP_872314	Q8N7L0	CM030_HUMAN		GBM - Glioblastoma multiforme(144;0.000512)|OV - Ovarian serous cystadenocarcinoma(117;0.000563)|BRCA - Breast invasive adenocarcinoma(63;0.0677)	4	410	+		Lung NSC(96;0.000369)|Prostate(109;0.0305)|Lung SC(185;0.0367)|Breast(139;0.0406)	96					B1ALI3	Missense_Mutation	SNP	ENST00000537894.1	37	c.287C>T	CCDS9386.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822049	0.32237	.	.	ENSG00000179813	ENST00000537894;ENST00000313851	T;T	0.51071	0.72;0.72	4.2	2.48	0.30137	.	0.220262	0.23298	N	0.049706	T	0.41627	0.1167	L	0.60455	1.87	0.09310	N	1	B	0.11235	0.004	B	0.14578	0.011	T	0.43065	-0.9414	10	0.72032	D	0.01	0.1195	8.4788	0.33030	0.0:0.8693:0.0:0.1307	.	96	Q8N7L0	CM030_HUMAN	L	96	ENSP00000445786:S96L;ENSP00000319336:S96L	ENSP00000319336:S96L	S	+	2	0	C13orf30	42260793	0.000000	0.05858	0.016000	0.15963	0.930000	0.56654	-0.067000	0.11579	0.744000	0.32741	0.650000	0.86243	TCA		PASS	0.448	FAM216B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044705.2	NM_182508		33	211	33	211	---	---	---	---
PIBF1	10464	broad.mit.edu	37	13	73396017	73396017	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:73396017G>A	ENST00000326291.6	+	6	1041	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	235						centrosome (GO:0005813)		p.E235K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAACTACTCTGAAGTTCAAAT	0.338																																						uc001vjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(703-705)GAA>AAA		progesterone-induced blocking factor 1							80.0	74.0	76.0					13																	73396017		2203	4300	6503	SO:0001583	missense	10464					centrosome		g.chr13:73396017G>A	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.703G>A	13.37:g.73396017G>A	ENSP00000317144:p.Glu235Lys					PIBF1_uc001vja.1_Missense_Mutation_p.E235K|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.E235K|PIBF1_uc010aep.2_Intron	p.E235K	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	6	1008	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	235					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.703G>A	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445199	0.63178	.	.	ENSG00000083535	ENST00000326291;ENST00000538949	T	0.32023	1.47	5.58	3.83	0.44106	.	0.227351	0.52532	D	0.000078	T	0.28267	0.0698	L	0.60455	1.87	0.52099	D	0.999947	P;P	0.35575	0.51;0.51	B;B	0.32864	0.154;0.154	T	0.05007	-1.0912	10	0.09338	T	0.73	-3.3701	16.4618	0.84059	0.0:0.2479:0.7521:0.0	.	235;235	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	K	235	ENSP00000317144:E235K	ENSP00000317144:E235K	E	+	1	0	PIBF1	72294018	1.000000	0.71417	0.992000	0.48379	0.940000	0.58332	4.591000	0.61019	0.815000	0.34398	0.557000	0.71058	GAA		PASS	0.338	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		34	92	34	92	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77759384	77759384	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:77759384G>A	ENST00000544440.2	-	32	4476	c.4459C>T	c.(4459-4461)Caa>Taa	p.Q1487*	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.Q1487*|MYCBP2_ENST00000407578.2_Nonsense_Mutation_p.Q1525*					MYC binding protein 2, E3 ubiquitin protein ligase									p.Q1487*(2)|p.Q1525*(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGATATCCTTGAGGATCATTA	0.383																																						uc001vkf.2																			3	Substitution - Nonsense(3)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(4459-4461)CAA>TAA		MYC binding protein 2							145.0	147.0	147.0					13																	77759384		2203	4300	6503	SO:0001587	stop_gained	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77759384G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4459C>T	13.37:g.77759384G>A	ENSP00000444596:p.Gln1487*					MYCBP2_uc010aev.2_Nonsense_Mutation_p.Q891*	p.Q1487*	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	33	4550	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1487						Nonsense_Mutation	SNP	ENST00000544440.2	37	c.4459C>T		.	.	.	.	.	.	.	.	.	.	G	44	11.125844	0.99519	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	.	.	.	5.85	5.85	0.93711	.	0.067248	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	15.6139	0.76750	0.0:0.1368:0.8632:0.0	.	.	.	.	X	1487;1525;1487	.	ENSP00000349892:Q1487X	Q	-	1	0	MYCBP2	76657385	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.513000	0.81739	2.769000	0.95229	0.491000	0.48974	CAA		PASS	0.383	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		20	312	20	312	---	---	---	---
RNF219	79596	broad.mit.edu	37	13	79216305	79216305	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:79216305C>T	ENST00000282003.6	-	3	310	c.252G>A	c.(250-252)agG>agA	p.R84R		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	84							zinc ion binding (GO:0008270)	p.R84R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GAAGATGCTTCCTGACCGTAT	0.328																																						uc001vkw.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)	2						c.(250-252)AGG>AGA		ring finger protein 219							165.0	160.0	162.0					13																	79216305		2203	4300	6503	SO:0001819	synonymous_variant	79596						zinc ion binding	g.chr13:79216305C>T	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.252G>A	13.37:g.79216305C>T						RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Silent_p.R84R	p.R84R	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN		GBM - Glioblastoma multiforme(99;0.0414)	3	311	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	84					B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Silent	SNP	ENST00000282003.6	37	c.252G>A	CCDS31997.1																																																																																				PASS	0.328	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		12	278	12	278	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88329558	88329558	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:88329558C>A	ENST00000325089.6	+	2	2134	c.1915C>A	c.(1915-1917)Cct>Act	p.P639T	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P398T	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	639					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.P639T(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)					CGCCGTGACTCCTGCGGTCCG	0.622																																						uc001vln.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(1915-1917)CCT>ACT		SLIT and NTRK-like family, member 5 precursor							82.0	84.0	83.0					13																	88329558		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329558C>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.1915C>A	13.37:g.88329558C>A	ENSP00000366283:p.Pro639Thr					SLITRK5_uc010tic.1_Missense_Mutation_p.P398T	p.P639T	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2134	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		639			Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1915C>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	4.906	0.168443	0.09339	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59224	0.28;0.6	5.47	3.39	0.38822	.	0.192485	0.44902	N	0.000417	T	0.29126	0.0724	N	0.05124	-0.11	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.10917	-1.0609	9	.	.	.	-7.659	5.7262	0.18015	0.1975:0.6755:0.0:0.127	.	398;639	B4DSH5;O94991	.;SLIK5_HUMAN	T	639;398	ENSP00000366283:P639T;ENSP00000442244:P398T	.	P	+	1	0	SLITRK5	87127559	0.000000	0.05858	0.802000	0.32245	0.712000	0.41017	0.356000	0.20181	1.231000	0.43661	0.555000	0.69702	CCT		PASS	0.622	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			7	139	7	139	---	---	---	---
GPC5	2262	broad.mit.edu	37	13	92345877	92345877	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:92345877G>T	ENST00000377067.3	+	3	1134	c.762G>T	c.(760-762)aaG>aaT	p.K254N		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	254					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.K254N(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CCCTCCTGAAGATGCAATACT	0.562																																						uc010tif.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(760-762)AAG>AAT		glypican 5 precursor							66.0	59.0	61.0					13																	92345877		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92345877G>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.762G>T	13.37:g.92345877G>T	ENSP00000366267:p.Lys254Asn						p.K254N	NM_004466	NP_004457	P78333	GPC5_HUMAN			3	1128	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	254					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.762G>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019182	0.54576	.	.	ENSG00000179399	ENST00000377067	T	0.61742	0.08	5.45	4.61	0.57282	.	0.413482	0.27871	N	0.017514	T	0.69788	0.3150	M	0.70595	2.14	0.33253	D	0.558727	D	0.52996	0.957	D	0.65010	0.931	T	0.78259	-0.2273	10	0.87932	D	0	.	7.4444	0.27203	0.2585:0.0:0.7415:0.0	.	254	P78333	GPC5_HUMAN	N	254	ENSP00000366267:K254N	ENSP00000366267:K254N	K	+	3	2	GPC5	91143878	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	1.376000	0.34306	1.307000	0.44944	0.585000	0.79938	AAG		PASS	0.562	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		53	57	53	57	---	---	---	---
HS6ST3	266722	broad.mit.edu	37	13	97485146	97485146	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:97485146C>T	ENST00000376705.2	+	2	1134	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	370					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)	p.L370L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CATTCAACCTCAAGTTCATCT	0.493																																						uc001vmw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1108-1110)CTC>CTT		heparan sulfate 6-O-sulfotransferase 3							102.0	100.0	101.0					13																	97485146		2203	4300	6503	SO:0001819	synonymous_variant	266722					integral to membrane	sulfotransferase activity	g.chr13:97485146C>T	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.1110C>T	13.37:g.97485146C>T							p.L370L	NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN			2	1134	+	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		370			Lumenal (Potential).		Q5W0L0|Q68CW6	Silent	SNP	ENST00000376705.2	37	c.1110C>T	CCDS9481.1																																																																																				PASS	0.493	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		30	174	30	174	---	---	---	---
FARP1	10160	broad.mit.edu	37	13	99042240	99042240	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:99042240G>C	ENST00000319562.6	+	10	1150	c.885G>C	c.(883-885)ctG>ctC	p.L295L	FARP1_ENST00000376586.2_Silent_p.L295L|FARP1_ENST00000595437.1_Silent_p.L295L	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	295	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L295L(2)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGGAATTCCTGATGGCCAGTC	0.443																																						uc001vnj.2																			2	Substitution - coding silent(2)		lung(2)	breast(2)	2						c.(883-885)CTG>CTC		FERM, RhoGEF, and pleckstrin domain protein 1							122.0	123.0	123.0					13																	99042240		2203	4300	6503	SO:0001819	synonymous_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99042240G>C	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.885G>C	13.37:g.99042240G>C						FARP1_uc001vnh.2_Silent_p.L295L	p.L295L	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		10	1221	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		295			FERM.		Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	c.885G>C	CCDS9487.1																																																																																				PASS	0.443	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		7	315	7	315	---	---	---	---
GPR18	2841	broad.mit.edu	37	13	99907182	99907182	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:99907182G>C	ENST00000340807.3	-	3	1501	c.945C>G	c.(943-945)ttC>ttG	p.F315L	GPR18_ENST00000397473.2_Missense_Mutation_p.F315L|UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.F315L			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	315					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F315L(1)		endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TACCAGATCGGAAACTTTTTC	0.358																																						uc001voe.3																			1	Substitution - Missense(1)		lung(1)		0						c.(943-945)TTC>TTG		G protein-coupled receptor 18	Glycine(DB00145)						127.0	126.0	127.0					13																	99907182		2203	4300	6503	SO:0001583	missense	2841					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99907182G>C	L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"""GPCR / Class A : Orphans"""	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.945C>G	13.37:g.99907182G>C	ENSP00000343428:p.Phe315Leu					UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|GPR18_uc010afv.2_Missense_Mutation_p.F315L	p.F315L	NM_005292	NP_005283	Q14330	GPR18_HUMAN			3	1446	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		315			Cytoplasmic (Potential).		Q6GTM3|Q96HI6|Q9H2L2	Missense_Mutation	SNP	ENST00000340807.3	37	c.945C>G	CCDS9491.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.688604	0.29962	.	.	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807	T;T;T	0.35421	1.31;1.31;1.31	5.97	3.93	0.45458	.	0.366568	0.31507	N	0.007523	T	0.15609	0.0376	N	0.14661	0.345	0.34109	D	0.662774	B	0.13594	0.008	B	0.11329	0.006	T	0.13098	-1.0522	9	.	.	.	-15.1759	0.3256	0.00310	0.2805:0.2004:0.314:0.2052	.	315	Q14330	GPR18_HUMAN	L	315	ENSP00000380613:F315L;ENSP00000380610:F315L;ENSP00000343428:F315L	.	F	-	3	2	GPR18	98705183	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.146000	0.31589	1.447000	0.47661	0.655000	0.94253	TTC		PASS	0.358	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1			70	153	70	153	---	---	---	---
IRS2	8660	broad.mit.edu	37	13	110434648	110434648	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:110434648G>C	ENST00000375856.3	-	1	4267	c.3753C>G	c.(3751-3753)ctC>ctG	p.L1251L		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1251					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.L1251L(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CGATGTAGTTGAGACCATTCT	0.706																																					Melanoma(100;613 2409 40847)	uc001vqv.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8						c.(3751-3753)CTC>CTG		insulin receptor substrate 2							15.0	16.0	15.0					13																	110434648		2109	4206	6315	SO:0001819	synonymous_variant	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110434648G>C	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3753C>G	13.37:g.110434648G>C							p.L1251L	NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	4267	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	1251					Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	ENST00000375856.3	37	c.3753C>G	CCDS9510.1																																																																																				PASS	0.706	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		22	20	22	20	---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110829259	110829260	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:110829259_110829260CC>AA	ENST00000375820.4	-	34	2962_2963	c.2841_2842GG>TT	c.(2839-2844)aaGGgc>aaTTgc	p.947_948KG>NC		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	947	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.G591C(1)|p.G948C(1)|p.K590_G591>NC(1)|p.K947_G948>NC(1)|p.K947N(1)|p.K590N(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTTTCTGGCCCTTCATGCTGC	0.574																																						uc001vqw.3																			6	Substitution - Missense(4)|Complex - compound substitution(2)		lung(6)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(2842-2844)GGC>TGC|c.(2839-2841)AAG>AAT		alpha 1 type IV collagen preproprotein																																				SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110829259C>A|g.chr13:110829260C>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2841_2842delinsAA	13.37:g.110829259_110829260delinsAA	ENSP00000364979:p.K947_G948delinsNC					COL4A1_uc010agl.2_Intron	p.G948C|p.K947N	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		34	2964|2963	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	948|947			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.2842G>T|c.2841G>T	CCDS9511.1																																																																																				PASS	0.574	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			60|63	80	60	80	---	---	---	---
ANKRD10	55608	broad.mit.edu	37	13	111532094	111532094	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:111532094C>T	ENST00000267339.2	-	6	1287	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	ANKRD10_ENST00000375758.5_3'UTR	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	385								p.E385K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			GGGATGCTTTCAGCAGTGTCC	0.567																																						uc001vrn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1153-1155)GAA>AAA		ankyrin repeat domain 10							152.0	107.0	122.0					13																	111532094		2203	4300	6503	SO:0001583	missense	55608							g.chr13:111532094C>T	AK000100	CCDS9520.1, CCDS66580.1	13q33.3	2013-01-10			ENSG00000088448	ENSG00000088448		"""Ankyrin repeat domain containing"""	20265	protein-coding gene	gene with protein product							Standard	NM_017664		Approved	FLJ20093	uc001vrn.3	Q9NXR5	OTTHUMG00000017349	ENST00000267339.2:c.1153G>A	13.37:g.111532094C>T	ENSP00000267339:p.Glu385Lys					ANKRD10_uc001vrm.2_Missense_Mutation_p.E122K|ANKRD10_uc001vrl.2_RNA	p.E385K	NM_017664	NP_060134	Q9NXR5	ANR10_HUMAN	all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)		6	1288	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		385					Q5VW12|Q9BV12	Missense_Mutation	SNP	ENST00000267339.2	37	c.1153G>A	CCDS9520.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942384	0.73672	.	.	ENSG00000088448	ENST00000267339	T	0.78126	-1.15	5.52	5.52	0.82312	.	0.053640	0.64402	D	0.000001	D	0.88276	0.6393	M	0.75264	2.295	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.89104	0.3491	10	0.87932	D	0	-17.5215	19.4338	0.94783	0.0:1.0:0.0:0.0	.	385	Q9NXR5	ANR10_HUMAN	K	385	ENSP00000267339:E385K	ENSP00000267339:E385K	E	-	1	0	ANKRD10	110330095	1.000000	0.71417	0.259000	0.24435	0.152000	0.21847	5.793000	0.69060	2.598000	0.87819	0.650000	0.86243	GAA		PASS	0.567	ANKRD10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045783.1			9	117	9	117	---	---	---	---
ATP11A	23250	broad.mit.edu	37	13	113479828	113479828	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:113479828G>A	ENST00000487903.1	+	11	1045	c.957G>A	c.(955-957)caG>caA	p.Q319Q	ATP11A_ENST00000375645.3_Silent_p.Q319Q|ATP11A_ENST00000375630.2_Silent_p.Q319Q|ATP11A_ENST00000283558.8_Silent_p.Q319Q			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	319					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.Q319Q(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACATGTGGCAGAGTGAGCCCT	0.463																																						uc001vsi.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)	4						c.(955-957)CAG>CAA		ATPase, class VI, type 11A isoform a							119.0	102.0	108.0					13																	113479828		2203	4300	6503	SO:0001819	synonymous_variant	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113479828G>A	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.957G>A	13.37:g.113479828G>A						ATP11A_uc001vsj.3_Silent_p.Q319Q|ATP11A_uc001vsm.1_Silent_p.Q195Q	p.Q319Q	NM_015205	NP_056020	P98196	AT11A_HUMAN			11	1045	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	319			Extracellular (Potential).		Q5VXT2	Silent	SNP	ENST00000487903.1	37	c.957G>A	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	7.332	0.619052	0.14129	.	.	ENSG00000068650	ENST00000418678	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	T	0.64853	0.2636	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63202	-0.6690	4	.	.	.	.	12.9832	0.58577	0.0774:0.0:0.9226:0.0	.	.	.	.	K	294	.	.	R	+	2	0	ATP11A	112527829	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	6.390000	0.73204	2.388000	0.81334	0.511000	0.50034	AGA		PASS	0.463	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		8	125	8	125	---	---	---	---
ATP11A	23250	broad.mit.edu	37	13	113527915	113527915	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:113527915G>C	ENST00000487903.1	+	27	3174	c.3086G>C	c.(3085-3087)tGg>tCg	p.W1029S	ATP11A_ENST00000375645.3_Missense_Mutation_p.W1029S|ATP11A_ENST00000375630.2_Missense_Mutation_p.W1029S|ATP11A_ENST00000283558.8_Missense_Mutation_p.W1029S			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1029					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.W1029S(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TACTGGACTTGGATCAACCAT	0.453											OREG0003854	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001vsi.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)	4						c.(3085-3087)TGG>TCG		ATPase, class VI, type 11A isoform a							216.0	180.0	192.0					13																	113527915		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113527915G>C	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.3086G>C	13.37:g.113527915G>C	ENSP00000420387:p.Trp1029Ser		OREG0003854	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1451	ATP11A_uc001vsj.3_Missense_Mutation_p.W1029S|ATP11A_uc010ago.2_RNA	p.W1029S	NM_015205	NP_056020	P98196	AT11A_HUMAN			27	3174	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	1029			Cytoplasmic (Potential).		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.3086G>C	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887207	0.52014	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000419631	T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.60353	0.2262	M	0.83692	2.655	0.80722	D	1	P;B	0.38420	0.63;0.431	B;B	0.41466	0.358;0.358	T	0.63047	-0.6724	10	0.23891	T	0.37	.	17.1131	0.86681	0.0:0.0:1.0:0.0	.	1029;1029	E9PEJ6;P98196	.;AT11A_HUMAN	S	1029;1029;1029;1029;21	ENSP00000420387:W1029S;ENSP00000364781:W1029S;ENSP00000364796:W1029S;ENSP00000283558:W1029S;ENSP00000410824:W21S	ENSP00000283558:W1029S	W	+	2	0	ATP11A	112575916	1.000000	0.71417	0.944000	0.38274	0.769000	0.43574	8.935000	0.92923	2.107000	0.64212	0.462000	0.41574	TGG		PASS	0.453	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		20	120	20	120	---	---	---	---
CHAMP1	283489	broad.mit.edu	37	13	115090626	115090626	+	Missense_Mutation	SNP	C	C	G	rs201708961		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr13:115090626C>G	ENST00000361283.1	+	3	1618	c.1309C>G	c.(1309-1311)Cca>Gca	p.P437A		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	437	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.P437A(1)									AGCAGGATCTCCAGAGCTCAG	0.532																																						uc010ahb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1309-1311)CCA>GCA		zinc finger protein 828							83.0	94.0	90.0					13																	115090626		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090626C>G	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1309C>G	13.37:g.115090626C>G	ENSP00000354730:p.Pro437Ala					ZNF828_uc001vuv.2_Missense_Mutation_p.P437A|ZNF828_uc010tko.1_Missense_Mutation_p.P437A	p.P437A	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)	3	1638	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	437			Mediates interaction with MAD2L2.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.1309C>G	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562141	0.65538	.	.	ENSG00000198824	ENST00000361283	T	0.03951	3.75	5.5	5.5	0.81552	.	0.000000	0.56097	D	0.000023	T	0.21509	0.0518	M	0.65498	2.005	0.44149	D	0.996942	D	0.89917	1.0	D	0.83275	0.996	T	0.00058	-1.2168	9	.	.	.	-9.8795	19.7577	0.96301	0.0:1.0:0.0:0.0	.	437	Q96JM3	ZN828_HUMAN	A	437	ENSP00000354730:P437A	.	P	+	1	0	ZNF828	114108728	0.966000	0.33281	1.000000	0.80357	0.982000	0.71751	0.450000	0.21762	2.741000	0.93983	0.650000	0.86243	CCA		PASS	0.532	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		183	144	183	144	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20852761	20852761	+	Silent	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:20852761G>T	ENST00000262715.5	-	22	3259	c.3219C>A	c.(3217-3219)cgC>cgA	p.R1073R	TEP1_ENST00000545983.1_5'Flank|TEP1_ENST00000556935.1_Silent_p.R965R	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1073					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.R1073R(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTCACCTGCGGCAGGTGA	0.552																																						uc001vxe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(3217-3219)CGC>CGA		telomerase-associated protein 1							137.0	149.0	145.0					14																	20852761		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20852761G>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3219C>A	14.37:g.20852761G>T						TEP1_uc010ahk.2_Silent_p.R423R|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.R965R|TEP1_uc010tlh.1_5'Flank	p.R1073R	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	22	3259	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1073					A0AUV9	Silent	SNP	ENST00000262715.5	37	c.3219C>A	CCDS9548.1																																																																																				PASS	0.552	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		83	317	83	317	---	---	---	---
RNASE4	6038	broad.mit.edu	37	14	21167599	21167599	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:21167599C>G	ENST00000555835.1	+	2	745	c.69C>G	c.(67-69)gtC>gtG	p.V23V	RP11-903H12.3_ENST00000554286.1_RNA|RNASE4_ENST00000555597.1_Silent_p.V23V|AL163636.6_ENST00000553909.1_3'UTR|RNASE4_ENST00000397995.2_Silent_p.V23V|RNASE4_ENST00000304704.4_Silent_p.V23V	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	23					cellular response to starvation (GO:0009267)|mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)	p.V23V(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		TGGGGCTGGTCCAGCCCTCCT	0.557																																					Esophageal Squamous(59;1059 1362 26290 51151)	uc001vxy.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(67-69)GTC>GTG		ribonuclease, RNase A family, 4 precursor							92.0	88.0	89.0					14																	21167599		2203	4300	6503	SO:0001819	synonymous_variant	6038				mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21167599C>G	U36775	CCDS9555.1	14q11	2014-07-16			ENSG00000258818	ENSG00000258818		"""Ribonucleases, RNase A"""	10047	protein-coding gene	gene with protein product		601030				7501448	Standard	NM_002937		Approved		uc001vxy.4	P34096	OTTHUMG00000029575	ENST00000555835.1:c.69C>G	14.37:g.21167599C>G						RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Silent_p.V23V	p.V23V	NM_002937	NP_002928	P34096	RNAS4_HUMAN	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)	2	632	+	all_cancers(95;0.00304)		23						Silent	SNP	ENST00000555835.1	37	c.69C>G	CCDS9555.1																																																																																				PASS	0.557	RNASE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073729.3			35	201	35	201	---	---	---	---
SALL2	6297	broad.mit.edu	37	14	21993371	21993371	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:21993371G>C	ENST00000327430.3	-	2	785	c.491C>G	c.(490-492)cCa>cGa	p.P164R	SALL2_ENST00000450879.2_Intron|SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	164	Poly-Pro.				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.P164R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		AGGGGGTGGTGGAGGAGGAGG	0.647																																						uc001wbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(490-492)CCA>CGA		sal-like 2							22.0	26.0	25.0					14																	21993371		2195	4286	6481	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21993371G>C	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.491C>G	14.37:g.21993371G>C	ENSP00000333537:p.Pro164Arg					SALL2_uc010tly.1_Missense_Mutation_p.P162R|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron	p.P164R	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	773	-	all_cancers(95;0.000662)		164			Poly-Pro.		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.491C>G	CCDS32045.1	.	.	.	.	.	.	.	.	.	.	G	7.988	0.752644	0.15778	.	.	ENSG00000165821	ENST00000327430;ENST00000541876;ENST00000537235	D;T	0.87966	-2.32;0.95	4.26	4.26	0.50523	.	0.000000	0.37393	U	0.002107	D	0.85881	0.5800	L	0.34521	1.04	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.53912	0.737;0.737	D	0.86906	0.2057	10	0.62326	D	0.03	-7.9144	12.0237	0.53358	0.0:0.0:1.0:0.0	.	162;164	B4DFD9;Q9Y467	.;SALL2_HUMAN	R	164;164;162	ENSP00000333537:P164R;ENSP00000438493:P162R	ENSP00000333537:P164R	P	-	2	0	SALL2	21063211	0.981000	0.34729	0.048000	0.18961	0.053000	0.15095	2.674000	0.46867	2.210000	0.71456	0.591000	0.81541	CCA		PASS	0.647	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		6	89	6	89	---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23894185	23894185	+	Silent	SNP	G	G	C	rs397516150		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:23894185G>C	ENST00000355349.3	-	22	2634	c.2472C>G	c.(2470-2472)gtC>gtG	p.V824V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	824			V -> I (in CMH1). {ECO:0000269|PubMed:12974739}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.V824V(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCAATTCTTGACCCCCATGA	0.547																																						uc001wjx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(2470-2472)GTC>GTG		myosin, heavy chain 7, cardiac muscle, beta							79.0	78.0	78.0					14																	23894185		2203	4298	6501	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23894185G>C	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2472C>G	14.37:g.23894185G>C							p.V824V	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	22	2578	-	all_cancers(95;2.54e-05)		824		V -> I (in CMH1).			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.2472C>G	CCDS9601.1																																																																																				PASS	0.547	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		7	204	7	204	---	---	---	---
LRRC16B	90668	broad.mit.edu	37	14	24522926	24522926	+	Silent	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:24522926C>A	ENST00000342740.5	+	2	203	c.49C>A	c.(49-51)Cgg>Agg	p.R17R	RP11-468E2.9_ENST00000558293.1_RNA|LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	17						cytoplasm (GO:0005737)		p.R17R(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		AGACAGCATCCGGAGGTGCCT	0.612																																						uc001wlj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(49-51)CGG>AGG		leucine rich repeat containing 16B							42.0	38.0	40.0					14																	24522926		2203	4300	6503	SO:0001819	synonymous_variant	90668							g.chr14:24522926C>A	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.49C>A	14.37:g.24522926C>A							p.R17R	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	2	206	+			17					Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	37	c.49C>A	CCDS32054.1																																																																																				PASS	0.612	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		4	79	4	79	---	---	---	---
FITM1	161247	broad.mit.edu	37	14	24601642	24601642	+	Missense_Mutation	SNP	C	C	G	rs373331243		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:24601642C>G	ENST00000267426.5	+	2	778	c.489C>G	c.(487-489)caC>caG	p.H163Q	FITM1_ENST00000559294.1_5'UTR	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	163					lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.H163Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TGCTGCTCCACGAGCTGCCTG	0.687																																						uc001wmf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(487-489)CAC>CAG		fat-inducing transcript 1							30.0	31.0	30.0					14																	24601642		2171	4264	6435	SO:0001583	missense	161247				lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane		g.chr14:24601642C>G		CCDS9611.1	14q12	2009-07-09			ENSG00000139914	ENSG00000139914			33714	protein-coding gene	gene with protein product	"""fat-inducing transcript 1"""	612028				18160536	Standard	NM_203402		Approved	FIT1	uc001wmf.2	A5D6W6	OTTHUMG00000133476	ENST00000267426.5:c.489C>G	14.37:g.24601642C>G	ENSP00000267426:p.His163Gln						p.H163Q	NM_203402	NP_981947	A5D6W6	FITM1_HUMAN			2	587	+			163			Extracellular (Potential).		Q8IUQ7	Missense_Mutation	SNP	ENST00000267426.5	37	c.489C>G	CCDS9611.1	.	.	.	.	.	.	.	.	.	.	c	6.184	0.402169	0.11696	.	.	ENSG00000139914	ENST00000267426	.	.	.	5.36	-3.19	0.05171	.	0.221273	0.39210	N	0.001426	T	0.28134	0.0694	N	0.19112	0.55	0.48040	D	0.999577	P	0.44578	0.838	P	0.46320	0.512	T	0.24333	-1.0163	9	0.14252	T	0.57	-0.5044	7.3035	0.26434	0.1184:0.2792:0.0:0.6024	.	163	A5D6W6	FITM1_HUMAN	Q	163	.	ENSP00000267426:H163Q	H	+	3	2	FITM1	23671482	0.193000	0.23313	0.900000	0.35374	0.911000	0.54048	-0.331000	0.07914	-0.629000	0.05575	-0.379000	0.06801	CAC		PASS	0.687	FITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257366.1	NM_203402		8	69	8	69	---	---	---	---
MDP1	145553	broad.mit.edu	37	14	24684816	24684816	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:24684816C>A	ENST00000288087.7	-	3	262	c.151G>T	c.(151-153)Gtg>Ttg	p.V51L	CHMP4A_ENST00000347519.6_5'Flank|CHMP4A_ENST00000609024.1_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|TM9SF1_ENST00000556387.1_5'Flank|NEDD8-MDP1_ENST00000604306.1_5'UTR|CHMP4A_ENST00000530996.1_5'Flank|MDP1_ENST00000532557.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.V68L|CHMP4A_ENST00000542700.2_5'Flank|MDP1_ENST00000396833.2_Missense_Mutation_p.V51L	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	51						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.V51L(1)		breast(2)|large_intestine(2)|lung(3)	7						ACCTCAGGCACCTCTGGGTAC	0.587											OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wnl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(151-153)GTG>TTG		magnesium-dependent phosphatase 1							184.0	195.0	191.0					14																	24684816		2203	4300	6503	SO:0001583	missense	145553						metal ion binding|protein tyrosine phosphatase activity	g.chr14:24684816C>A	BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"""fructosamine-6-phosphatase"""					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.151G>T	14.37:g.24684816C>A	ENSP00000288087:p.Val51Leu		OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	773	TM9SF1_uc010tob.1_5'Flank|CHMP4A_uc001wni.2_5'Flank|CHMP4A_uc010toc.1_5'Flank|CHMP4A_uc001wnj.2_5'UTR|MDP1_uc001wnk.1_Missense_Mutation_p.V51L|CHMP4A_uc001wnm.1_Missense_Mutation_p.V51L	p.V51L	NM_138476	NP_612485	Q86V88	MGDP1_HUMAN			3	231	-			51					Q86Y84|Q8NAD9	Missense_Mutation	SNP	ENST00000288087.7	37	c.151G>T	CCDS9620.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985065	0.74474	.	.	ENSG00000213920;ENSG00000213920;ENSG00000255526	ENST00000288087;ENST00000396833;ENST00000534348	D;D;D	0.97752	-4.52;-4.52;-4.52	4.87	3.97	0.46021	HAD-like domain (2);HAD-superfamily phosphatase, subfamily IIIC (1);	.	.	.	.	D	0.97845	0.9292	M	0.82433	2.59	0.24983	N	0.991581	D;P;P	0.53151	0.958;0.79;0.903	P;B;B	0.51487	0.671;0.37;0.371	D	0.93849	0.7143	9	0.52906	T	0.07	-11.883	12.0343	0.53417	0.1734:0.8266:0.0:0.0	.	51;51;51	Q86V88-3;Q86V88;Q86V88-2	.;MGDP1_HUMAN;.	L	51;51;68	ENSP00000288087:V51L;ENSP00000380045:V51L;ENSP00000431482:V68L	ENSP00000288087:V51L	V	-	1	0	MDP1;NEDD8-MDP1	23754656	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	3.990000	0.56965	1.163000	0.42636	-0.314000	0.08810	GTG		PASS	0.587	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	NM_138476		30	711	30	711	---	---	---	---
G2E3	55632	broad.mit.edu	37	14	31071217	31071217	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:31071217A>T	ENST00000206595.6	+	10	1044	c.890A>T	c.(889-891)aAa>aTa	p.K297I	G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000553504.1_Missense_Mutation_p.K327I|G2E3_ENST00000438909.2_Missense_Mutation_p.K251I	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	297					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K297I(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GAGTTCCAAAAAGCCAAAAAA	0.308																																						uc001wqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(889-891)AAA>ATA		G2/M-phase specific E3 ubiquitin ligase							55.0	58.0	57.0					14																	31071217		2203	4300	6503	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31071217A>T	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.890A>T	14.37:g.31071217A>T	ENSP00000206595:p.Lys297Ile					G2E3_uc010tpe.1_Missense_Mutation_p.K212I|G2E3_uc010tpf.1_Missense_Mutation_p.K251I	p.K297I	NM_017769	NP_060239	Q7L622	G2E3_HUMAN			10	1044	+			297					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.890A>T	CCDS9638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.7|20.7	4.037243|4.037243	0.75617|0.75617	.|.	.|.	ENSG00000092140|ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504|ENST00000552515	T;T;T|.	0.81330|.	-1.48;0.84;-0.9|.	5.72|5.72	3.43|3.43	0.39272|0.39272	.|.	0.566027|0.566027	0.20063|0.20063	N|N	0.100023|0.100023	T|T	0.41696|0.41696	0.1170|0.1170	L|L	0.36672|0.36672	1.1|1.1	0.32493|0.32493	N|N	0.539972|0.539972	P;D|.	0.54397|.	0.93;0.966|.	B;P|.	0.52159|.	0.276;0.691|.	T|T	0.50039|0.50039	-0.8874|-0.8874	10|6	0.72032|.	D|.	0.01|.	-22.4837|-22.4837	9.1314|9.1314	0.36848|0.36848	0.8698:0.0:0.1302:0.0|0.8698:0.0:0.1302:0.0	.|.	212;297|.	B4DIF9;Q7L622|.	.;G2E3_HUMAN|.	I|N	297;251;327|62	ENSP00000206595:K297I;ENSP00000391068:K251I;ENSP00000451653:K327I|.	ENSP00000206595:K297I|.	K|K	+|+	2|3	0|2	G2E3|G2E3	30140968|30140968	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.053000|2.053000	0.41326|0.41326	2.183000|2.183000	0.69458|0.69458	0.533000|0.533000	0.62120|0.62120	AAA|AAA		PASS	0.308	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		16	115	16	115	---	---	---	---
EAPP	55837	broad.mit.edu	37	14	35002695	35002695	+	Missense_Mutation	SNP	C	C	T	rs200465224	byFrequency	TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:35002695C>T	ENST00000250454.3	-	3	388	c.307G>A	c.(307-309)Gat>Aat	p.D103N		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	103					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.D103N(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TATATATCATCGTAGTACCTT	0.343													C|||	9	0.00179712	0.0068	0.0	5008	,	,		19991	0.0		0.0	False		,,,				2504	0.0					uc001wsd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(307-309)GAT>AAT		E2F-associated phosphoprotein		C	ASN/ASP	15,3689		1,13,1838	135.0	126.0	129.0		307	4.6	1.0	14		129	0,8184		0,0,4092	yes	missense	EAPP	NM_018453.3	23	1,13,5930	TT,TC,CC		0.0,0.405,0.1262	probably-damaging	103/286	35002695	15,11873	1852	4092	5944	SO:0001583	missense	55837				negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		g.chr14:35002695C>T	AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.307G>A	14.37:g.35002695C>T	ENSP00000250454:p.Asp103Asn						p.D103N	NM_018453	NP_060923	Q56P03	EAPP_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)	3	416	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		103					Q9BVF4|Q9NWV5|Q9NZ86	Missense_Mutation	SNP	ENST00000250454.3	37	c.307G>A	CCDS41941.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.47	3.631847	0.67015	0.00405	0.0	ENSG00000129518	ENST00000250454;ENST00000554792	T;T	0.56941	0.43;0.56	5.54	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.47948	0.1473	M	0.73319	2.225	0.58432	D	0.999996	P	0.39831	0.69	B	0.27887	0.084	T	0.57997	-0.7714	10	0.51188	T	0.08	-20.9078	15.4327	0.75116	0.0:0.9297:0.0:0.0703	.	103	Q56P03	EAPP_HUMAN	N	103;82	ENSP00000250454:D103N;ENSP00000450908:D82N	ENSP00000250454:D103N	D	-	1	0	EAPP	34072446	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	4.111000	0.57838	2.785000	0.95823	0.655000	0.94253	GAT		PASS	0.343	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453		80	139	80	139	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42356460	42356460	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:42356460C>G	ENST00000298119.4	+	3	1821	c.632C>G	c.(631-633)cCa>cGa	p.P211R	LRFN5_ENST00000554120.1_Missense_Mutation_p.P211R|LRFN5_ENST00000554171.1_Missense_Mutation_p.P211R	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	211						integral component of membrane (GO:0016021)		p.P211R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CAGAAGCTACCACCTGACCCT	0.433										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(631-633)CCA>CGA		leucine rich repeat and fibronectin type III							72.0	69.0	71.0					14																	42356460		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356460C>G	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.632C>G	14.37:g.42356460C>G	ENSP00000298119:p.Pro211Arg	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.P211R	p.P211R	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1830	+			211			Extracellular (Potential).|LRR 7.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.632C>G	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408632	0.62399	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.60299	0.2;0.2;0.2	5.56	5.56	0.83823	.	0.000000	0.56097	D	0.000029	T	0.80939	0.4720	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.967;0.999	D	0.84583	0.0662	10	0.72032	D	0.01	.	17.0193	0.86429	0.0:1.0:0.0:0.0	.	211;211	G3V364;Q96NI6	.;LRFN5_HUMAN	R	211	ENSP00000298119:P211R;ENSP00000451897:P211R;ENSP00000451067:P211R	ENSP00000298119:P211R	P	+	2	0	LRFN5	41426210	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.806000	0.86020	2.595000	0.87683	0.650000	0.86243	CCA		PASS	0.433	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		22	152	22	152	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44975323	44975323	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:44975323G>A	ENST00000340446.4	-	1	1159	c.868C>T	c.(868-870)Cat>Tat	p.H290Y	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	290						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.H290Y(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ACTTGGACATGGGTCTCTTCA	0.493																																						uc001wvn.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(868-870)CAT>TAT		fibrous sheath CABYR binding protein							55.0	56.0	56.0					14																	44975323		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975323G>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.868C>T	14.37:g.44975323G>A	ENSP00000344579:p.His290Tyr						p.H290Y	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1177	-			290					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.868C>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.657232	0.00779	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.22134	1.97	4.07	1.08	0.20341	.	.	.	.	.	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	1	B	0.18013	0.025	B	0.11329	0.006	T	0.29549	-1.0008	9	0.39692	T	0.17	.	5.8815	0.18858	0.1817:0.0:0.6657:0.1526	.	290	Q5H9T9	FSCB_HUMAN	Y	290	ENSP00000344579:H290Y	ENSP00000344579:H290Y	H	-	1	0	FSCB	44045073	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.022000	0.13511	0.094000	0.17404	-0.923000	0.02734	CAT		PASS	0.493	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		7	141	7	141	---	---	---	---
SOS2	6655	broad.mit.edu	37	14	50585451	50585451	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:50585451G>A	ENST00000216373.5	-	23	3884	c.3610C>T	c.(3610-3612)Cct>Tct	p.P1204S	VCPKMT_ENST00000395859.2_5'Flank|SOS2_ENST00000543680.1_Missense_Mutation_p.P1171S|VCPKMT_ENST00000395860.2_5'Flank	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1204	Poly-Pro.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P1204S(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GGTGGCGGAGGTGGACTATGC	0.522																																						uc001wxs.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(3610-3612)CCT>TCT		son of sevenless homolog 2							102.0	107.0	105.0					14																	50585451		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50585451G>A	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3610C>T	14.37:g.50585451G>A	ENSP00000216373:p.Pro1204Ser					SOS2_uc010ans.2_Missense_Mutation_p.P39S|SOS2_uc010tql.1_Missense_Mutation_p.P1171S|C14orf138_uc001wxn.1_5'Flank|C14orf138_uc001wxo.1_5'Flank|C14orf138_uc001wxp.1_5'Flank|C14orf138_uc001wxq.1_5'Flank	p.P1204S	NM_006939	NP_008870	Q07890	SOS2_HUMAN			23	3708	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		1204			Poly-Pro.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.3610C>T	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494781	0.64186	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	D;D	0.82081	-1.57;-1.5	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.89139	0.6630	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.85728	0.1329	10	0.12103	T	0.63	.	18.3244	0.90248	0.0:0.0:1.0:0.0	.	1171;1204	B7ZKT6;Q07890	.;SOS2_HUMAN	S	1204;1171	ENSP00000216373:P1204S;ENSP00000445328:P1171S	ENSP00000216373:P1204S	P	-	1	0	SOS2	49655201	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.773000	0.75006	2.303000	0.77524	0.563000	0.77884	CCT		PASS	0.522	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			11	346	11	346	---	---	---	---
FRMD6	122786	broad.mit.edu	37	14	52164869	52164869	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:52164869C>T	ENST00000344768.5	+	3	305	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L	FRMD6_ENST00000356218.4_Silent_p.L37L|FRMD6_ENST00000395718.2_Silent_p.L37L|FRMD6_ENST00000554167.1_5'UTR			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	37	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.L37L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GGTTAAGATTCTGTGTCACCA	0.443																																						uc001wzd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(109-111)CTG>TTG		FERM domain containing 6							123.0	112.0	116.0					14																	52164869		2203	4300	6503	SO:0001819	synonymous_variant	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52164869C>T	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.109C>T	14.37:g.52164869C>T						FRMD6_uc001wzb.2_Silent_p.L37L|FRMD6_uc001wzc.2_Silent_p.L37L|FRMD6_uc001wze.2_5'UTR	p.L37L	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN			3	394	+	all_epithelial(31;0.0163)|Breast(41;0.089)		37			FERM.		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	ENST00000344768.5	37	c.109C>T	CCDS58318.1																																																																																				PASS	0.443	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		29	109	29	109	---	---	---	---
PTGDR	5729	broad.mit.edu	37	14	52741475	52741475	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:52741475G>T	ENST00000306051.2	+	2	975	c.873G>T	c.(871-873)aaG>aaT	p.K291N	PTGDR_ENST00000553372.1_3'UTR	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	291					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)	p.K291N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GAGCATTTAAGGATGTCAAGG	0.398																																						uc001wzq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(871-873)AAG>AAT		prostaglandin D2 receptor	Nedocromil(DB00716)						90.0	84.0	86.0					14																	52741475		2203	4300	6503	SO:0001583	missense	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52741475G>T	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.873G>T	14.37:g.52741475G>T	ENSP00000303424:p.Lys291Asn						p.K291N	NM_000953	NP_000944	Q13258	PD2R_HUMAN			2	975	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		291			Extracellular (Potential).		G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	37	c.873G>T	CCDS9707.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745336	0.30955	.	.	ENSG00000168229	ENST00000306051	T	0.72725	-0.68	5.2	-1.26	0.09376	GPCR, rhodopsin-like superfamily (1);	0.394287	0.21954	N	0.066698	T	0.50222	0.1603	L	0.47716	1.5	0.09310	N	1	B	0.18310	0.027	B	0.19666	0.026	T	0.19289	-1.0310	10	0.11485	T	0.65	-0.8144	1.252	0.01984	0.381:0.2568:0.2372:0.125	.	291	Q13258	PD2R_HUMAN	N	291	ENSP00000303424:K291N	ENSP00000303424:K291N	K	+	3	2	PTGDR	51811225	0.000000	0.05858	0.004000	0.12327	0.213000	0.24496	0.298000	0.19120	-0.092000	0.12417	-0.302000	0.09304	AAG		PASS	0.398	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		4	110	4	110	---	---	---	---
WDHD1	11169	broad.mit.edu	37	14	55475407	55475407	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:55475407C>G	ENST00000360586.3	-	5	437	c.372G>C	c.(370-372)atG>atC	p.M124I	WDHD1_ENST00000420358.2_Start_Codon_SNP_p.M1I|WDHD1_ENST00000421192.1_Start_Codon_SNP_p.M1I	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	124					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.M124I(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						GGCTGCTATCCATCACATCCA	0.363																																						uc001xbm.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(370-372)ATG>ATC		WD repeat and HMG-box DNA binding protein 1							99.0	95.0	97.0					14																	55475407		2203	4300	6503	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55475407C>G	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.372G>C	14.37:g.55475407C>G	ENSP00000353793:p.Met124Ile					WDHD1_uc001xbn.1_Missense_Mutation_p.M1I	p.M124I	NM_007086	NP_009017	O75717	WDHD1_HUMAN			5	450	-			124			WD 3.		C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.372G>C	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255858	0.22965	.	.	ENSG00000198554	ENST00000360586;ENST00000421192;ENST00000420358;ENST00000455555	T;T;T;T	0.80824	5.06;0.08;0.08;-1.42	5.15	4.27	0.50696	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.635152	0.17845	N	0.160075	T	0.70692	0.3253	L	0.36672	1.1	0.80722	D	1	B	0.13594	0.008	B	0.15484	0.013	T	0.65479	-0.6158	10	0.40728	T	0.16	.	8.9444	0.35749	0.1826:0.7375:0.0:0.0798	.	124	O75717	WDHD1_HUMAN	I	124;1;1;124	ENSP00000353793:M124I;ENSP00000391049:M1I;ENSP00000399349:M1I;ENSP00000413435:M124I	ENSP00000353793:M124I	M	-	3	0	WDHD1	54545157	0.012000	0.17670	0.997000	0.53966	0.964000	0.63967	-0.035000	0.12205	1.309000	0.44985	-0.218000	0.12543	ATG		PASS	0.363	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		60	124	60	124	---	---	---	---
KTN1	3895	broad.mit.edu	37	14	56079043	56079043	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:56079043G>C	ENST00000395314.3	+	2	345	c.277G>C	c.(277-279)Gaa>Caa	p.E93Q	KTN1_ENST00000395309.3_Missense_Mutation_p.E93Q|KTN1_ENST00000438792.2_Missense_Mutation_p.E93Q|KTN1_ENST00000395308.1_Missense_Mutation_p.E93Q|KTN1_ENST00000413890.2_Missense_Mutation_p.E93Q|KTN1_ENST00000395311.1_Missense_Mutation_p.E93Q|KTN1_ENST00000416613.1_Missense_Mutation_p.E93Q	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	93					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E93Q(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TTTGGCAGTAGAAGATGATCA	0.373			T	RET	papillary thryoid																																	uc001xcb.2				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						c.(277-279)GAA>CAA		kinectin 1 isoform a							83.0	87.0	86.0					14																	56079043		2203	4300	6503	SO:0001583	missense	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56079043G>C		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.277G>C	14.37:g.56079043G>C	ENSP00000378725:p.Glu93Gln					KTN1_uc001xce.2_Missense_Mutation_p.E93Q|KTN1_uc001xcc.2_Missense_Mutation_p.E93Q|KTN1_uc001xcd.2_Missense_Mutation_p.E93Q|KTN1_uc010trb.1_Missense_Mutation_p.E93Q|KTN1_uc001xcf.1_Missense_Mutation_p.E93Q	p.E93Q	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN			3	579	+			93			Lumenal (Potential).		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.277G>C	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454624	0.84209	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	D;D;D;D;D;D;D	0.99121	-5.45;-5.45;-5.45;-5.45;-5.45;-5.45;-5.45	5.74	5.74	0.90152	.	0.113090	0.39083	N	0.001469	D	0.98748	0.9579	L	0.43152	1.355	0.45580	D	0.998527	D;D;D;D	0.63880	0.993;0.986;0.993;0.975	P;P;P;P	0.61397	0.888;0.87;0.888;0.828	D	0.99589	1.0975	10	0.45353	T	0.12	-10.1589	19.9317	0.97122	0.0:0.0:1.0:0.0	.	93;93;93;93	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	Q	93	ENSP00000394992:E93Q;ENSP00000378720:E93Q;ENSP00000391964:E93Q;ENSP00000378725:E93Q;ENSP00000378719:E93Q;ENSP00000378722:E93Q;ENSP00000388807:E93Q	ENSP00000378719:E93Q	E	+	1	0	KTN1	55148796	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.780000	0.91799	2.716000	0.92895	0.591000	0.81541	GAA		PASS	0.373	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			8	212	8	212	---	---	---	---
C14orf37	145407	broad.mit.edu	37	14	58604887	58604887	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:58604887G>A	ENST00000267485.7	-	2	1384	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	397						integral component of membrane (GO:0016021)		p.S397F(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GGGGGTAAAGGAACTTTGATC	0.512																																						uc001xdc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1189-1191)TCC>TTC		hypothetical protein LOC145407 precursor							100.0	95.0	97.0					14																	58604887		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58604887G>A		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1190C>T	14.37:g.58604887G>A	ENSP00000267485:p.Ser397Phe					C14orf37_uc010tro.1_Missense_Mutation_p.S435F|C14orf37_uc001xdd.2_Missense_Mutation_p.S397F|C14orf37_uc001xde.2_Missense_Mutation_p.S397F	p.S397F	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			2	1301	-			397			Extracellular (Potential).		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.1190C>T	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192018	0.58017	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.31769	1.48	5.86	4.97	0.65823	.	0.289069	0.30658	N	0.009153	T	0.30262	0.0759	M	0.64997	1.995	0.09310	N	1	B;B;B;B	0.32382	0.169;0.368;0.169;0.169	B;B;B;B	0.32677	0.091;0.15;0.091;0.091	T	0.36286	-0.9754	10	0.72032	D	0.01	-6.9598	7.9019	0.29740	0.0809:0.0:0.7603:0.1588	.	435;397;397;397	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	F	397;435	ENSP00000267485:S397F	ENSP00000267485:S397F	S	-	2	0	C14orf37	57674640	0.791000	0.28800	0.411000	0.26484	0.060000	0.15804	2.003000	0.40844	1.494000	0.48533	0.655000	0.94253	TCC		PASS	0.512	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		99	176	99	176	---	---	---	---
KIAA0586	9786	broad.mit.edu	37	14	58895097	58895097	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:58895097G>A	ENST00000556134.1	+	2	344	c.70G>A	c.(70-72)Gag>Aag	p.E24K	KIAA0586_ENST00000354386.6_Missense_Mutation_p.E51K|KIAA0586_ENST00000423743.3_Intron|KIAA0586_ENST00000261244.5_Missense_Mutation_p.E39K|TIMM9_ENST00000395159.2_5'Flank|TIMM9_ENST00000555593.1_5'Flank|TIMM9_ENST00000556007.2_5'Flank|TIMM9_ENST00000216463.4_5'Flank|TIMM9_ENST00000555404.1_5'Flank|RP11-517O13.1_ENST00000556734.1_RNA	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	24					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.E39K(1)|p.E51K(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTGAAAGATGAGTTGCCCTG	0.428																																						uc001xdv.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(115-117)GAG>AAG		talpid3 protein							156.0	148.0	151.0					14																	58895097		2033	4198	6231	SO:0001583	missense	9786							g.chr14:58895097G>A	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.70G>A	14.37:g.58895097G>A	ENSP00000452351:p.Glu24Lys					KIAA0586_uc010trr.1_Missense_Mutation_p.E39K|KIAA0586_uc001xdt.3_Intron|KIAA0586_uc001xdu.3_Missense_Mutation_p.E24K|KIAA0586_uc010trs.1_Intron|TIMM9_uc010aph.2_5'Flank|TIMM9_uc001xds.2_5'Flank|TIMM9_uc010api.2_5'Flank	p.E39K	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN			1	388	+			39					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.115G>A	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768881	0.31320	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000261244	T;T;T	0.57595	0.39;0.58;0.58	5.38	3.49	0.39957	.	0.101745	0.42053	D	0.000766	T	0.36880	0.0983	.	.	.	0.09310	N	0.999999	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.13407	0.009;0.004;0.004	T	0.21655	-1.0239	9	0.42905	T	0.14	.	7.7474	0.28877	0.0879:0.1621:0.75:0.0	.	51;39;24	E7EWM8;E9PGW8;Q9BVV6	.;.;K0586_HUMAN	K	51;24;39	ENSP00000346359:E51K;ENSP00000452351:E24K;ENSP00000261244:E39K	ENSP00000261244:E39K	E	+	1	0	KIAA0586	57964850	0.314000	0.24563	0.090000	0.20809	0.431000	0.31685	1.009000	0.29886	1.511000	0.48818	-0.137000	0.14449	GAG		PASS	0.428	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		8	122	8	122	---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60193809	60193809	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:60193809C>A	ENST00000267484.5	-	3	1928	c.1593G>T	c.(1591-1593)caG>caT	p.Q531H		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	531					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.Q531H(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CGGGGCCAGGCTGGGGCTCAG	0.687																																						uc001xen.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1591-1593)CAG>CAT		reticulon 1 isoform A							14.0	17.0	16.0					14																	60193809		2201	4299	6500	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60193809C>A	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1593G>T	14.37:g.60193809C>A	ENSP00000267484:p.Gln531His					RTN1_uc001xem.1_Missense_Mutation_p.Q111H	p.Q531H	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	3	1802	-			531					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.1593G>T	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339779	0.24339	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000433623	T	0.25250	1.81	4.87	-9.35	0.00633	.	2.752430	0.01799	N	0.032779	T	0.20373	0.0490	L	0.47716	1.5	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.12268	-1.0554	10	0.41790	T	0.15	.	9.0343	0.36277	0.0:0.1879:0.1804:0.6317	.	531	Q16799	RTN1_HUMAN	H	111;531;457	ENSP00000267484:Q531H	ENSP00000267484:Q531H	Q	-	3	2	RTN1	59263562	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.048000	0.03517	-2.035000	0.00923	-0.251000	0.11542	CAG		PASS	0.687	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			8	16	8	16	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64519092	64519092	+	Nonsense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:64519092A>T	ENST00000344113.4	+	48	8673	c.8461A>T	c.(8461-8463)Aaa>Taa	p.K2821*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.K2854*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.K2821*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2821					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.K2821*(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCTGGTTTTAAAATCAACTCA	0.338																																						uc001xgm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(8461-8463)AAA>TAA		spectrin repeat containing, nuclear envelope 2							51.0	48.0	49.0					14																	64519092		1819	4080	5899	SO:0001587	stop_gained	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64519092A>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8461A>T	14.37:g.64519092A>T	ENSP00000341781:p.Lys2821*					SYNE2_uc001xgl.2_Nonsense_Mutation_p.K2821*	p.K2821*	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	8691	+			2821			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	37	c.8461A>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	49	15.922694	0.99849	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.27	1.5	0.22942	.	0.114392	0.38492	N	0.001675	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.0156	0.14335	0.68:0.1536:0.1664:0.0	.	.	.	.	X	2821;2821;2854;2854	.	ENSP00000261678:K2854X	K	+	1	0	SYNE2	63588845	1.000000	0.71417	0.911000	0.35937	0.933000	0.57130	1.157000	0.31724	0.015000	0.14971	0.260000	0.18958	AAA		PASS	0.338	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		11	109	11	109	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64595260	64595260	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:64595260G>A	ENST00000344113.4	+	74	14220	c.14008G>A	c.(14008-14010)Gaa>Aaa	p.E4670K	SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E1055K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.E1055K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E1304K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4670K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4670					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.E4670K(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAGTGTTGCTGAACAGCTTCA	0.358																																						uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(14008-14010)GAA>AAA		spectrin repeat containing, nuclear envelope 2							89.0	87.0	88.0					14																	64595260		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64595260G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14008G>A	14.37:g.64595260G>A	ENSP00000341781:p.Glu4670Lys					SYNE2_uc001xgl.2_Missense_Mutation_p.E4670K|SYNE2_uc010apy.2_Missense_Mutation_p.E1055K|SYNE2_uc010apz.1_Missense_Mutation_p.E562K	p.E4670K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	74	14238	+			4670			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.14008G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	8.841	0.942366	0.18281	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	5.43	2.61	0.31194	.	0.334050	0.25047	N	0.033548	T	0.21921	0.0528	N	0.19112	0.55	0.58432	D	0.999998	B;B;B	0.14438	0.007;0.009;0.01	B;B;B	0.17433	0.018;0.013;0.018	T	0.04128	-1.0975	10	0.39692	T	0.17	.	8.34	0.32239	0.3069:0.0:0.6931:0.0	.	1055;4670;4670	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	K	4670;1055;4670;1304;1055	ENSP00000350719:E4670K;ENSP00000349969:E1055K;ENSP00000341781:E4670K;ENSP00000450831:E1304K;ENSP00000378249:E1055K	ENSP00000341781:E4670K	E	+	1	0	SYNE2	63665013	1.000000	0.71417	0.576000	0.28549	0.567000	0.35839	2.913000	0.48790	0.352000	0.24053	-0.300000	0.09419	GAA		PASS	0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		44	205	44	205	---	---	---	---
MTHFD1	4522	broad.mit.edu	37	14	64908778	64908778	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:64908778C>G	ENST00000545908.1	+	20	2288	c.2059C>G	c.(2059-2061)Cca>Gca	p.P687A	CTD-2555O16.2_ENST00000556640.1_RNA|CTD-2555O16.4_ENST00000609125.1_RNA|MTHFD1_ENST00000216605.8_Missense_Mutation_p.P631A			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	631	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)	p.P631A(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	ACAGGGCACTCCAGTGTTTGT	0.522																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	uc001xhb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1891-1893)CCA>GCA		methylenetetrahydrofolate dehydrogenase 1	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						69.0	61.0	64.0					14																	64908778		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding	g.chr14:64908778C>G	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2059C>G	14.37:g.64908778C>G	ENSP00000438588:p.Pro687Ala					MTHFD1_uc010aqf.2_Missense_Mutation_p.P687A	p.P631A	NM_005956	NP_005947	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	20	2278	+			631			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.1891C>G		.	.	.	.	.	.	.	.	.	.	C	33	5.201557	0.94997	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605	T;T;T	0.54071	0.59;0.59;0.59	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.80864	0.4705	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	D	0.83792	0.0231	10	0.72032	D	0.01	-11.8697	20.5827	0.99408	0.0:1.0:0.0:0.0	.	687;631	F5H2F4;G3V2B8	.;.	A	687;631;687	ENSP00000438588:P687A;ENSP00000450560:P631A;ENSP00000216605:P687A	ENSP00000216605:P631A	P	+	1	0	MTHFD1	63978531	1.000000	0.71417	0.978000	0.43139	0.983000	0.72400	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CCA		PASS	0.522	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			14	59	14	59	---	---	---	---
RDH12	145226	broad.mit.edu	37	14	68189388	68189388	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:68189388C>T	ENST00000551171.1	+	3	353	c.29C>T	c.(28-30)tCc>tTc	p.S10F	RDH12_ENST00000539142.1_Missense_Mutation_p.S10F|RDH12_ENST00000267502.3_Missense_Mutation_p.S10F	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	10					photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	intracellular (GO:0005622)|photoreceptor inner segment membrane (GO:0060342)	retinol dehydrogenase activity (GO:0004745)	p.S10F(1)		large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	CTGCTCACCTCCTTCTTCTCG	0.502																																						uc001xjz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(28-30)TCC>TTC		retinol dehydrogenase 12	Vitamin A(DB00162)						343.0	272.0	296.0					14																	68189388		2203	4300	6503	SO:0001583	missense	145226				photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity	g.chr14:68189388C>T	AK054835	CCDS9787.1	14q24.1	2013-02-14	2006-05-09		ENSG00000139988	ENSG00000139988	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19977	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 2"""	608830	"""retinol dehydrogenase 12 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_152443		Approved	FLJ30273, SDR7C2, LCA13, RP53	uc001xjz.4	Q96NR8		ENST00000551171.1:c.29C>T	14.37:g.68189388C>T	ENSP00000449079:p.Ser10Phe						p.S10F	NM_152443	NP_689656	Q96NR8	RDH12_HUMAN		all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	3	353	+			10					B2RDA2|Q8TAW6	Missense_Mutation	SNP	ENST00000551171.1	37	c.29C>T	CCDS9787.1	.	.	.	.	.	.	.	.	.	.	C	7.194	0.592201	0.13812	.	.	ENSG00000139988	ENST00000551171;ENST00000267502;ENST00000539142	D;D;D	0.85171	-1.95;-1.95;-1.95	5.2	1.14	0.20703	.	0.980128	0.08377	N	0.955216	T	0.68109	0.2965	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.52961	-0.8505	10	0.25106	T	0.35	.	6.0472	0.19766	0.0:0.5401:0.2931:0.1668	.	10	Q96NR8	RDH12_HUMAN	F	10	ENSP00000449079:S10F;ENSP00000267502:S10F;ENSP00000438715:S10F	ENSP00000267502:S10F	S	+	2	0	RDH12	67259141	0.007000	0.16637	0.299000	0.25016	0.366000	0.29705	0.184000	0.16939	0.166000	0.19597	0.491000	0.48974	TCC		PASS	0.502	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1			10	298	10	298	---	---	---	---
ZFYVE26	23503	broad.mit.edu	37	14	68234552	68234552	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:68234552C>G	ENST00000347230.4	-	31	5797	c.5659G>C	c.(5659-5661)Gac>Cac	p.D1887H	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.D1887H	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1887					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.D1887H(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TTGGAGCTGTCTAGAGCTGAG	0.478																																						uc001xka.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)	11						c.(5659-5661)GAC>CAC		zinc finger, FYVE domain containing 26							110.0	99.0	102.0					14																	68234552		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68234552C>G	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5659G>C	14.37:g.68234552C>G	ENSP00000251119:p.Asp1887His					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.D1887H	p.D1887H	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	31	5798	-			1887					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.5659G>C	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865310	0.32977	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.28895	1.73;1.59	5.77	4.88	0.63580	Zinc finger, FYVE/PHD-type (1);	0.231324	0.43260	D	0.000592	T	0.40645	0.1125	L	0.51422	1.61	0.09310	N	0.999999	P;P	0.48503	0.911;0.855	P;P	0.51135	0.66;0.533	T	0.27502	-1.0072	10	0.49607	T	0.09	-6.879	15.2982	0.73925	0.0:0.8607:0.1393:0.0	.	1887;1887	G3V2D8;Q68DK2	.;ZFY26_HUMAN	H	1887;1866;1887	ENSP00000251119:D1887H;ENSP00000450603:D1887H	ENSP00000251119:D1887H	D	-	1	0	ZFYVE26	67304305	0.799000	0.28903	0.109000	0.21407	0.118000	0.20060	1.735000	0.38176	1.442000	0.47568	0.561000	0.74099	GAC		PASS	0.478	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		10	165	10	165	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71500230	71500230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:71500230C>T	ENST00000304743.2	+	17	4089	c.3643C>T	c.(3643-3645)Caa>Taa	p.Q1215*	PCNX_ENST00000439984.3_Nonsense_Mutation_p.Q1104*|PCNX_ENST00000238570.5_Nonsense_Mutation_p.Q1215*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1215						integral component of membrane (GO:0016021)		p.Q1215*(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TCTCAGCCGACAAAGCAGTGA	0.348																																						uc001xmo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(3643-3645)CAA>TAA		pecanex-like 1							150.0	133.0	139.0					14																	71500230		2203	4300	6503	SO:0001587	stop_gained	22990					integral to membrane		g.chr14:71500230C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3643C>T	14.37:g.71500230C>T	ENSP00000304192:p.Gln1215*					PCNX_uc010are.1_Nonsense_Mutation_p.Q1104*|PCNX_uc010arf.1_Nonsense_Mutation_p.Q75*	p.Q1215*	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	17	4089	+			1215					B2RTR6|O94897|Q96AI7|Q9Y2J9	Nonsense_Mutation	SNP	ENST00000304743.2	37	c.3643C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	37	6.330399	0.97480	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	.	.	.	5.72	5.72	0.89469	.	0.104185	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.8731	0.96858	0.0:1.0:0.0:0.0	.	.	.	.	X	1215;1215;1104	.	ENSP00000238570:Q1215X	Q	+	1	0	PCNX	70569983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.233000	0.78125	2.707000	0.92482	0.650000	0.86243	CAA		PASS	0.348	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		46	124	46	124	---	---	---	---
VRTN	55237	broad.mit.edu	37	14	74823770	74823770	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:74823770G>T	ENST00000256362.4	+	2	525	c.284G>T	c.(283-285)tGg>tTg	p.W95L		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	95					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.W95L(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						ATGCTGCTGTGGGGTGACGCA	0.637																																						uc001xpw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(283-285)TGG>TTG		hypothetical protein LOC55237							47.0	43.0	45.0					14																	74823770		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74823770G>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.284G>T	14.37:g.74823770G>T	ENSP00000256362:p.Trp95Leu						p.W95L	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00147)	2	475	+			95					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.284G>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203255	0.58234	.	.	ENSG00000133980	ENST00000256362	T	0.42131	0.98	4.91	4.91	0.64330	.	0.193173	0.35495	N	0.003174	T	0.30293	0.0760	N	0.19112	0.55	0.39395	D	0.966486	P	0.49185	0.92	B	0.40825	0.341	T	0.11842	-1.0571	10	0.34782	T	0.22	-5.922	16.4306	0.83841	0.0:0.0:1.0:0.0	.	95	Q9H8Y1	VRTN_HUMAN	L	95	ENSP00000256362:W95L	ENSP00000256362:W95L	W	+	2	0	VRTN	73893523	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.245000	0.72398	2.540000	0.85666	0.561000	0.74099	TGG		PASS	0.637	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		8	65	8	65	---	---	---	---
FOS	2353	broad.mit.edu	37	14	75747808	75747808	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:75747808C>A	ENST00000303562.4	+	4	1033	c.824C>A	c.(823-825)cCa>cAa	p.P275Q	FOS_ENST00000555347.1_Missense_Mutation_p.P127Q|FOS_ENST00000535987.1_Missense_Mutation_p.P239Q|FOS_ENST00000555686.1_Missense_Mutation_p.P161Q	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	275					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P275Q(1)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	TTCCTGTTCCCAGCATCATCC	0.582																																						uc001xrn.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(823-825)CCA>CAA		v-fos FBJ murine osteosarcoma viral oncogene							63.0	60.0	61.0					14																	75747808		2203	4300	6503	SO:0001583	missense	2353				cellular response to reactive oxygen species|DNA methylation|inflammatory response|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|SMAD protein signal transduction|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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:75747808C>A	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"""basic leucine zipper proteins"""	3796	protein-coding gene	gene with protein product		164810	"""v-fos FBJ murine osteosarcoma viral oncogene homolog"""			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.824C>A	14.37:g.75747808C>A	ENSP00000306245:p.Pro275Gln					FOS_uc010tva.1_Missense_Mutation_p.P239Q|FOS_uc010asi.2_Missense_Mutation_p.P161Q|FOS_uc001xro.2_Missense_Mutation_p.P127Q	p.P275Q	NM_005252	NP_005243	P01100	FOS_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0117)	4	1029	+		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)	275					A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	ENST00000303562.4	37	c.824C>A	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	C	9.906	1.208075	0.22205	.	.	ENSG00000170345	ENST00000303562;ENST00000535987;ENST00000555686;ENST00000555672;ENST00000555347	T;T;T	0.65178	0.45;0.82;-0.14	5.22	5.22	0.72569	.	0.426796	0.26727	N	0.022809	T	0.57184	0.2036	L	0.54323	1.7	0.32066	N	0.595046	B;B	0.20459	0.045;0.026	B;B	0.26310	0.068;0.011	T	0.64037	-0.6501	10	0.62326	D	0.03	-11.8142	9.5731	0.39440	0.0:0.8419:0.0:0.1581	.	239;275	B4DQ65;P01100	.;FOS_HUMAN	Q	275;239;161;125;127	ENSP00000306245:P275Q;ENSP00000442268:P239Q;ENSP00000452590:P161Q	ENSP00000306245:P275Q	P	+	2	0	FOS	74817561	0.991000	0.36638	0.991000	0.47740	0.841000	0.47740	3.570000	0.53834	2.609000	0.88269	0.563000	0.77884	CCA		PASS	0.582	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1	NM_005252		37	93	37	93	---	---	---	---
SAMD15	161394	broad.mit.edu	37	14	77844289	77844289	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:77844289C>G	ENST00000216471.4	+	1	814	c.528C>G	c.(526-528)gtC>gtG	p.V176V	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	176								p.V176V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGCCACAGTCAGAGAGAGAA	0.488																																						uc001xtq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(526-528)GTC>GTG		hypothetical protein LOC161394							69.0	77.0	74.0					14																	77844289		2203	4300	6503	SO:0001819	synonymous_variant	161394							g.chr14:77844289C>G	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.528C>G	14.37:g.77844289C>G						TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	p.V176V	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)	1	528	+			176					Q2M3P3	Silent	SNP	ENST00000216471.4	37	c.528C>G	CCDS32126.1																																																																																				PASS	0.488	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		4	219	4	219	---	---	---	---
CPSF2	53981	broad.mit.edu	37	14	92588099	92588099	+	5'Flank	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:92588099G>A	ENST00000298875.4	+	0	0				NDUFB1_ENST00000329559.3_Missense_Mutation_p.S8F|NDUFB1_ENST00000605997.1_5'Flank|NDUFB1_ENST00000556555.1_5'Flank|NDUFB1_ENST00000553514.1_5'Flank|NDUFB1_ENST00000555441.1_5'Flank	NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa						gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)	p.S8F(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GCACGGAGCAGAGGGGTGACG	0.532																																					Ovarian(78;28 1788 18702 44111)	uc001yaf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(22-24)TCT>TTT		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						51.0	57.0	55.0					14																	92588099		2203	4299	6502	SO:0001631	upstream_gene_variant	4707				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr14:92588099G>A	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0			14.37:g.92588099G>A	Exception_encountered					NDUFB1_uc001yag.1_RNA|CPSF2_uc001yah.1_5'Flank	p.S8F	NM_004545	NP_004536	O75438	NDUB1_HUMAN		COAD - Colon adenocarcinoma(157;0.205)	1	55	-		all_cancers(154;0.0766)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	c.23C>T	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539067	0.65085	.	.	ENSG00000183648	ENST00000329559	.	.	.	4.52	-0.99	0.10238	.	.	.	.	.	T	0.26846	0.0657	.	.	.	0.09310	N	0.999992	B	0.14012	0.009	B	0.10450	0.005	T	0.29027	-1.0025	7	0.87932	D	0	.	2.8946	0.05687	0.2929:0.0:0.3756:0.3315	.	8	O75438-2	.	F	8	.	ENSP00000330787:S8F	S	-	2	0	NDUFB1	91657852	0.009000	0.17119	0.009000	0.14445	0.203000	0.24098	0.055000	0.14229	-0.173000	0.10761	0.555000	0.69702	TCT		PASS	0.532	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			19	120	19	120	---	---	---	---
SERPINA13P	388007	broad.mit.edu	37	14	95107883	95107883	+	RNA	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:95107883C>A	ENST00000469935.1	+	0	488					NR_015340.1		Q6UXR4	SPA13_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P77T(1)									TCTCTTCTCCCCAGTGAGCAT	0.592																																						uc001ydt.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(400-402)CCA>ACA		RecName: Full=Serpin A13; Flags: Precursor;							21.0	21.0	21.0					14																	95107883		2201	4289	6490			388007							g.chr14:95107883C>A	AY358238		14q32.13	2014-02-18	2012-10-03	2012-10-03	ENSG00000187483	ENSG00000187483		"""Serine (or cysteine) peptidase inhibitors"""	30909	pseudogene	pseudogene			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"""	SERPINA13		15014966, 16395595, 24172014	Standard	NR_015340		Approved	UNQ6121	uc001ydt.3	Q6UXR4	OTTHUMG00000150191		14.37:g.95107883C>A							p.P134T	NR_015340						2	488	+									Missense_Mutation	SNP	ENST00000469935.1	37	c.400C>A																																																																																					PASS	0.592	SERPINA13P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000316754.1	NR_015340		6	17	6	17	---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95578573	95578573	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:95578573C>G	ENST00000526495.1	-	15	2343	c.2052G>C	c.(2050-2052)atG>atC	p.M684I	DICER1_ENST00000541352.1_Missense_Mutation_p.M684I|DICER1_ENST00000527414.1_Missense_Mutation_p.M684I|DICER1_ENST00000343455.3_Missense_Mutation_p.M684I|DICER1_ENST00000393063.1_Missense_Mutation_p.M684I			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	684	Dicer dsRNA-binding fold. {ECO:0000255|PROSITE-ProRule:PRU00657}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.M684I(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTACACAGCTCATTGGTGGAC	0.388			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(2050-2052)ATG>ATC		dicer1							89.0	85.0	86.0					14																	95578573		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95578573C>G	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2052G>C	14.37:g.95578573C>G	ENSP00000437256:p.Met684Ile					DICER1_uc001ydv.2_Missense_Mutation_p.M674I|DICER1_uc001ydx.2_Missense_Mutation_p.M684I	p.M684I	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	14	2234	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	684			Dicer dsRNA-binding fold.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.2052G>C	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952529	0.92660	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.43	5.38	5.38	0.77491	Dicer double-stranded RNA-binding fold (2);	0.123266	0.85682	D	0.000000	T	0.78091	0.4229	M	0.87547	2.89	0.80722	D	1	D	0.60160	0.987	D	0.66716	0.946	T	0.76364	-0.2986	10	0.22706	T	0.39	-22.0636	18.7522	0.91820	0.0:1.0:0.0:0.0	.	684	Q9UPY3	DICER_HUMAN	I	684	ENSP00000343745:M684I;ENSP00000437256:M684I;ENSP00000376783:M684I;ENSP00000435681:M684I;ENSP00000444719:M684I	ENSP00000343745:M684I	M	-	3	0	DICER1	94648326	1.000000	0.71417	0.997000	0.53966	0.928000	0.56348	7.491000	0.81471	2.504000	0.84457	0.650000	0.86243	ATG		PASS	0.388	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			6	152	6	152	---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95582871	95582871	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:95582871G>C	ENST00000526495.1	-	12	1962	c.1671C>G	c.(1669-1671)atC>atG	p.I557M	DICER1_ENST00000541352.1_Missense_Mutation_p.I557M|DICER1_ENST00000527414.1_Missense_Mutation_p.I557M|DICER1_ENST00000343455.3_Missense_Mutation_p.I557M|DICER1_ENST00000393063.1_Missense_Mutation_p.I557M			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	557	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.I557M(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TATAATTAGAGATGGGTGCCC	0.348			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(1669-1671)ATC>ATG		dicer1							114.0	121.0	119.0					14																	95582871		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95582871G>C	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1671C>G	14.37:g.95582871G>C	ENSP00000437256:p.Ile557Met					DICER1_uc001ydv.2_Missense_Mutation_p.I547M|DICER1_uc001ydx.2_Missense_Mutation_p.I557M	p.I557M	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	11	1853	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	557			Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.1671C>G	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184133	0.38609	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.76	5.12	3.28	0.37604	Helicase, C-terminal (1);	0.161570	0.56097	D	0.000031	T	0.28300	0.0699	N	0.11560	0.145	0.45118	D	0.998131	P	0.51240	0.943	B	0.38225	0.268	T	0.07424	-1.0773	10	0.54805	T	0.06	-19.092	8.1395	0.31076	0.3126:0.0:0.6874:0.0	.	557	Q9UPY3	DICER_HUMAN	M	557	ENSP00000343745:I557M;ENSP00000437256:I557M;ENSP00000376783:I557M;ENSP00000435681:I557M;ENSP00000444719:I557M	ENSP00000343745:I557M	I	-	3	3	DICER1	94652624	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	2.867000	0.48428	0.550000	0.28991	0.462000	0.41574	ATC		PASS	0.348	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			58	348	58	348	---	---	---	---
SYNE3	161176	broad.mit.edu	37	14	95912339	95912339	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:95912339C>G	ENST00000334258.5	-	8	1553	c.1539G>C	c.(1537-1539)gaG>gaC	p.E513D	SYNE3_ENST00000554873.1_Missense_Mutation_p.E270D|SYNE3_ENST00000557275.1_Missense_Mutation_p.E513D|SYNE3_ENST00000553340.1_Missense_Mutation_p.E513D	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	513					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)	p.E513D(3)		breast(1)|endometrium(2)|lung(25)	28						CCGTGGCTCTCTCCTGGCCAA	0.577																																						uc001yei.3																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(1)	1						c.(1537-1539)GAG>GAC		nesprin-3							123.0	119.0	120.0					14																	95912339		2203	4300	6503	SO:0001583	missense	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95912339C>G	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1539G>C	14.37:g.95912339C>G	ENSP00000334308:p.Glu513Asp					C14orf49_uc010avi.2_Missense_Mutation_p.E513D|C14orf49_uc001yej.1_Missense_Mutation_p.E513D	p.E513D	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	8	1554	-		all_cancers(154;0.0937)	513			Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.1539G>C	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516192	0.27123	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	T;T;T;T	0.18016	3.18;2.24;3.19;2.51	5.31	0.619	0.17630	.	0.356997	0.20097	N	0.099312	T	0.11793	0.0287	L	0.33624	1.015	0.28988	N	0.888223	B;B;B	0.25904	0.137;0.137;0.084	B;B;B	0.28305	0.088;0.088;0.04	T	0.23904	-1.0175	10	0.25106	T	0.35	-12.2424	9.1971	0.37235	0.0:0.4408:0.4476:0.1116	.	513;513;513	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	D	513;270;513;513	ENSP00000334308:E513D;ENSP00000452154:E270D;ENSP00000450562:E513D;ENSP00000450774:E513D	ENSP00000334308:E513D	E	-	3	2	C14orf49	94982092	0.045000	0.20229	0.085000	0.20634	0.598000	0.36846	0.235000	0.17948	0.186000	0.20125	0.561000	0.74099	GAG		PASS	0.577	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		135	172	135	172	---	---	---	---
SYNE3	161176	broad.mit.edu	37	14	95932538	95932538	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:95932538C>G	ENST00000334258.5	-	3	371	c.357G>C	c.(355-357)ctG>ctC	p.L119L	SYNE3_ENST00000557275.1_Silent_p.L119L|SYNE3_ENST00000553340.1_Silent_p.L119L	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	119					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)	p.L119L(3)		breast(1)|endometrium(2)|lung(25)	28						CTCGGGCCAGCAGGTACTCGC	0.627																																						uc001yei.3																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(1)	1						c.(355-357)CTG>CTC		nesprin-3							52.0	57.0	55.0					14																	95932538		2203	4300	6503	SO:0001819	synonymous_variant	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95932538C>G	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.357G>C	14.37:g.95932538C>G						C14orf49_uc010avi.2_Silent_p.L119L|C14orf49_uc001yej.1_Silent_p.L119L	p.L119L	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	3	372	-		all_cancers(154;0.0937)	119			Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	c.357G>C	CCDS9935.1																																																																																				PASS	0.627	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		26	49	26	49	---	---	---	---
DEGS2	123099	broad.mit.edu	37	14	100615443	100615443	+	Silent	SNP	G	G	A	rs145891510		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:100615443G>A	ENST00000305631.5	-	2	1262	c.687C>T	c.(685-687)ttC>ttT	p.F229F	DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2									p.F229F(2)		breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCTCGGCCACGAAGTGGCCCG	0.622																																						uc001ygx.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(685-687)TTC>TTT		degenerative spermatocyte homolog 2, lipid		G		0,4406		0,0,2203	61.0	73.0	69.0		687	-5.1	0.8	14	dbSNP_134	69	2,8592	1.2+/-3.3	0,2,4295	no	coding-synonymous	DEGS2	NM_206918.2		0,2,6498	AA,AG,GG		0.0233,0.0,0.0154		229/324	100615443	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100615443G>A		CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"""Fatty acid desaturases"""	20113	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 2"", ""dihydroceramide desaturase 2"""	610862	"""chromosome 14 open reading frame 66"", ""degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"""	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.687C>T	14.37:g.100615443G>A							p.F229F	NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN			2	775	-		Melanoma(154;0.212)	229			Helical; (Potential).			Silent	SNP	ENST00000305631.5	37	c.687C>T	CCDS9956.1																																																																																				PASS	0.622	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414003.1	NM_206918		86	116	86	116	---	---	---	---
DLK1	8788	broad.mit.edu	37	14	101201015	101201015	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:101201015G>A	ENST00000341267.4	+	5	1176	c.934G>A	c.(934-936)Gtg>Atg	p.V312M	RP11-566J3.4_ENST00000608876.1_lincRNA|DLK1_ENST00000331224.6_Missense_Mutation_p.V239M	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	312					cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.V312M(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CATCCTGGGCGTGCTCACCAG	0.597																																						uc001yhs.3																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(2)|breast(1)|skin(1)	4						c.(934-936)GTG>ATG		delta-like 1 homolog precursor							97.0	89.0	92.0					14																	101201015		2203	4300	6503	SO:0001583	missense	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101201015G>A	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.934G>A	14.37:g.101201015G>A	ENSP00000340292:p.Val312Met					DLK1_uc001yhu.3_Missense_Mutation_p.V239M	p.V312M	NM_003836	NP_003827	P80370	DLK1_HUMAN			5	1087	+		Melanoma(154;0.155)	312			Helical; (Potential).		P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	c.934G>A	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098536	0.56183	.	.	ENSG00000185559	ENST00000341267;ENST00000331224	T;T	0.75367	-0.93;-0.93	4.45	3.48	0.39840	.	0.095220	0.42964	D	0.000639	T	0.72843	0.3511	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.74103	-0.3773	10	0.72032	D	0.01	.	6.7937	0.23713	0.0:0.1538:0.5576:0.2886	.	239;312	P80370-2;P80370	.;DLK1_HUMAN	M	312;239	ENSP00000340292:V312M;ENSP00000331081:V239M	ENSP00000331081:V239M	V	+	1	0	DLK1	100270768	0.996000	0.38824	1.000000	0.80357	0.986000	0.74619	2.597000	0.46214	2.025000	0.59659	0.313000	0.20887	GTG		PASS	0.597	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			32	173	32	173	---	---	---	---
PPP2R5C	5527	broad.mit.edu	37	14	102391487	102391487	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:102391487G>C	ENST00000334743.5	+	14	1501	c.1453G>C	c.(1453-1455)Gat>Cat	p.D485H	PPP2R5C_ENST00000350249.3_Missense_Mutation_p.D446H|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.D501H|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.D516H	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	485					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.D501H(1)|p.D485H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGCACAGAAAGATCCGAAGAA	0.522																																						uc001yko.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1453-1455)GAT>CAT		gamma isoform of regulatory subunit B56, protein							167.0	181.0	176.0					14																	102391487		2203	4300	6503	SO:0001583	missense	5527				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity	g.chr14:102391487G>C	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.1453G>C	14.37:g.102391487G>C	ENSP00000333905:p.Asp485His					PPP2R5C_uc010txr.1_Missense_Mutation_p.D516H|PPP2R5C_uc001ykk.2_Missense_Mutation_p.D501H|PPP2R5C_uc001ykp.2_Missense_Mutation_p.D446H	p.D485H	NM_002719	NP_002710	Q13362	2A5G_HUMAN			14	1593	+			485					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	c.1453G>C	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925420	0.73213	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334743	T;T;T;T;T	0.48201	0.88;0.83;0.88;0.82;0.88	6.17	6.17	0.99709	.	0.182018	0.64402	D	0.000018	T	0.64204	0.2577	M	0.71581	2.175	0.80722	D	1	P;P;P;P	0.47604	0.898;0.659;0.529;0.74	P;B;B;B	0.52881	0.712;0.393;0.281;0.438	T	0.60393	-0.7272	10	0.46703	T	0.11	-7.9573	20.8794	0.99867	0.0:0.0:1.0:0.0	.	516;446;485;501	F5GWP3;Q13362-3;Q13362;Q6ZN33	.;.;2A5G_HUMAN;.	H	516;501;514;446;485	ENSP00000412324:D516H;ENSP00000329009:D501H;ENSP00000450931:D514H;ENSP00000262239:D446H;ENSP00000333905:D485H	ENSP00000329009:D501H	D	+	1	0	PPP2R5C	101461240	1.000000	0.71417	0.849000	0.33467	0.996000	0.88848	8.891000	0.92485	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.522	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		74	433	74	433	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102498736	102498736	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:102498736G>T	ENST00000360184.4	+	52	10175	c.10011G>T	c.(10009-10011)caG>caT	p.Q3337H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3337	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.Q3337H(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACTGGAAGCAGATCCGCTCCA	0.572																																						uc001yks.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(10009-10011)CAG>CAT		cytoplasmic dynein 1 heavy chain 1							142.0	113.0	122.0					14																	102498736		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102498736G>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10011G>T	14.37:g.102498736G>T	ENSP00000348965:p.Gln3337His						p.Q3337H	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			52	10175	+			3337			Stalk (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.10011G>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012101	0.54468	.	.	ENSG00000197102	ENST00000360184	T	0.74315	-0.83	5.6	5.6	0.85130	Dynein heavy chain, coiled coil stalk (1);	0.108697	0.64402	D	0.000006	T	0.63450	0.2512	N	0.22421	0.69	0.58432	D	0.999999	B	0.31581	0.329	B	0.33890	0.172	T	0.64922	-0.6293	10	0.52906	T	0.07	.	13.329	0.60475	0.0816:0.0:0.9184:0.0	.	3337	Q14204	DYHC1_HUMAN	H	3337	ENSP00000348965:Q3337H	ENSP00000348965:Q3337H	Q	+	3	2	DYNC1H1	101568489	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.761000	0.62243	2.642000	0.89623	0.467000	0.42956	CAG		PASS	0.572	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		8	224	8	224	---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103470347	103470347	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:103470347C>T	ENST00000361246.2	-	4	653	c.365G>A	c.(364-366)cGa>cAa	p.R122Q		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.R122Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCGCTCCTCTCGGAAGCACGC	0.627																																						uc001ymi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(364-366)CGA>CAA		CDC42-binding protein kinase beta							74.0	55.0	61.0					14																	103470347		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103470347C>T	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.365G>A	14.37:g.103470347C>T	ENSP00000355237:p.Arg122Gln						p.R122Q	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	4	597	-		Melanoma(154;0.155)	122			Protein kinase.			Missense_Mutation	SNP	ENST00000361246.2	37	c.365G>A	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	32	5.180037	0.94846	.	.	ENSG00000198752	ENST00000361246	T	0.68025	-0.3	5.04	5.04	0.67666	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	T	0.74512	0.3726	L	0.45698	1.435	0.80722	D	1	D	0.71674	0.998	P	0.58391	0.838	T	0.75382	-0.3337	10	0.49607	T	0.09	.	18.7358	0.91753	0.0:1.0:0.0:0.0	.	122	Q9Y5S2	MRCKB_HUMAN	Q	122	ENSP00000355237:R122Q	ENSP00000355237:R122Q	R	-	2	0	CDC42BPB	102540100	1.000000	0.71417	0.984000	0.44739	0.553000	0.35397	6.005000	0.70716	2.501000	0.84356	0.491000	0.48974	CGA		PASS	0.627	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		6	43	6	43	---	---	---	---
CRIP2	1397	broad.mit.edu	37	14	105945519	105945519	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr14:105945519G>T	ENST00000329146.4	+	6	1177	c.464G>T	c.(463-465)cGc>cTc	p.R155L	CRIP2_ENST00000483017.3_Missense_Mutation_p.R229L|CRIP2_ENST00000548989.1_3'UTR	NM_001312.3	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	155	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	cell cortex (GO:0005938)	zinc ion binding (GO:0008270)	p.R155L(1)		lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		CGCTGCGAGCGCTGCGGGAAG	0.746																																						uc001yrd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(463-465)CGC>CTC		cysteine-rich protein 2							17.0	21.0	20.0					14																	105945519		2142	4219	6361	SO:0001583	missense	1397						zinc ion binding	g.chr14:105945519G>T		CCDS10003.1, CCDS59246.1	14q32.3	2008-08-11			ENSG00000182809	ENSG00000182809			2361	protein-coding gene	gene with protein product		601183				8843343, 10681529	Standard	NM_001312		Approved	CRP2, ESP1	uc031qqr.1	P52943	OTTHUMG00000029906	ENST00000329146.4:c.464G>T	14.37:g.105945519G>T	ENSP00000328521:p.Arg155Leu					CRIP2_uc010tyr.1_Missense_Mutation_p.R229L|CRIP2_uc001yre.1_Missense_Mutation_p.R155L|CRIP2_uc001yrf.1_RNA|CRIP2_uc001yrg.2_RNA|CRIP2_uc001yrh.1_RNA	p.R155L	NM_001312	NP_001303	P52943	CRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)	6	533	+		Melanoma(154;0.226)	155			LIM zinc-binding 2.		A1A4U1|B7Z6C0|E9PD13	Missense_Mutation	SNP	ENST00000329146.4	37	c.464G>T	CCDS10003.1	.	.	.	.	.	.	.	.	.	.	g	25.2	4.611847	0.87258	.	.	ENSG00000182809	ENST00000483017;ENST00000329146	D;D	0.87256	-2.23;-2.23	3.7	2.76	0.32466	Zinc finger, LIM-type (5);	0.138900	0.33057	U	0.005335	D	0.88385	0.6422	L	0.45137	1.4	0.80722	D	1	D;D;P	0.61080	0.98;0.989;0.821	P;P;P	0.61874	0.552;0.895;0.455	D	0.86311	0.1686	10	0.41790	T	0.15	-9.4236	11.495	0.50402	0.0:0.1842:0.8158:0.0	.	229;155;155	B7Z6C0;Q53FN1;P52943	.;.;CRIP2_HUMAN	L	229;155	ENSP00000426119:R229L;ENSP00000328521:R155L	ENSP00000328521:R155L	R	+	2	0	CRIP2	105016564	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.434000	0.80377	0.709000	0.31976	0.282000	0.19409	CGC		PASS	0.746	CRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074597.3	NM_001312		5	19	5	19	---	---	---	---
OR4N4	283694	broad.mit.edu	37	15	22382511	22382511	+	Silent	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:22382511C>A	ENST00000328795.4	+	1	130	c.39C>A	c.(37-39)atC>atA	p.I13I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I13I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CAGAATTTATCCTCCTTGGTC	0.343																																						uc001yuc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(37-39)ATC>ATA		olfactory receptor, family 4, subfamily N,							156.0	148.0	151.0					15																	22382511		2187	4263	6450	SO:0001819	synonymous_variant	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382511C>A	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.39C>A	15.37:g.22382511C>A						LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Silent_p.I13I	p.I13I	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1020	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	13			Extracellular (Potential).		Q6IEY3|Q6IF56	Silent	SNP	ENST00000328795.4	37	c.39C>A	CCDS32173.1																																																																																				PASS	0.343	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			82	384	82	384	---	---	---	---
GABRA5	2558	broad.mit.edu	37	15	27182355	27182355	+	Missense_Mutation	SNP	G	G	A	rs375240262		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:27182355G>A	ENST00000335625.5	+	8	1492	c.604G>A	c.(604-606)Gtt>Att	p.V202I	GABRA5_ENST00000355395.5_Missense_Mutation_p.V202I|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.V202I	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	202					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.V202I(3)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	TTCTGAAGTCGTTTACGTCTG	0.512																																						uc001zbd.1																			3	Substitution - Missense(3)		lung(2)|NS(1)	ovary(1)	1						c.(604-606)GTT>ATT		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	G	ILE/VAL,ILE/VAL	1,3991		0,1,1995	135.0	134.0	134.0		604,604	0.2	0.0	15		134	1,8355		0,1,4177	no	missense,missense	GABRA5	NM_000810.3,NM_001165037.1	29,29	0,2,6172	AA,AG,GG		0.012,0.0251,0.0162	benign,benign	202/463,202/463	27182355	2,12346	1996	4178	6174	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27182355G>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.604G>A	15.37:g.27182355G>A	ENSP00000335592:p.Val202Ile					GABRB3_uc001zbb.2_Intron	p.V202I	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	9	943	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	202			Extracellular (Potential).		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.604G>A	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	3.147	-0.175002	0.06421	2.51E-4	1.2E-4	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	T;T;T	0.79141	-1.24;-1.24;-1.24	4.92	0.241	0.15494	Neurotransmitter-gated ion-channel ligand-binding (3);	0.346500	0.32459	N	0.006065	T	0.51736	0.1692	N	0.14661	0.345	0.35993	D	0.836874	B	0.06786	0.001	B	0.15484	0.013	T	0.49331	-0.8951	10	0.02654	T	1	.	7.7976	0.29156	0.4929:0.0:0.5071:0.0	.	202	P31644	GBRA5_HUMAN	I	202	ENSP00000335592:V202I;ENSP00000347557:V202I;ENSP00000382953:V202I	ENSP00000335592:V202I	V	+	1	0	GABRA5	24765101	0.610000	0.26983	0.029000	0.17559	0.752000	0.42762	0.928000	0.28831	0.202000	0.20498	0.462000	0.41574	GTT		PASS	0.512	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			39	112	39	112	---	---	---	---
GABRG3	2567	broad.mit.edu	37	15	27572057	27572057	+	Silent	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:27572057G>T	ENST00000333743.6	+	4	626	c.372G>T	c.(370-372)ggG>ggT	p.G124G	GABRG3_ENST00000555083.1_Silent_p.G124G	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	124					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.G124G(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	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)|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)	ACATGGTGGGGTTAATCTGGA	0.458																																					NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(370-372)GGG>GGT		gamma-aminobutyric acid (GABA) A receptor, gamma							138.0	138.0	138.0					15																	27572057		1998	4206	6204	SO:0001819	synonymous_variant	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27572057G>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.372G>T	15.37:g.27572057G>T						GABRG3_uc001zbf.2_Silent_p.G124G	p.G124G	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	4	538	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	124			Extracellular (Probable).		G3V594|Q9HD46|Q9NYT2	Silent	SNP	ENST00000333743.6	37	c.372G>T	CCDS45195.1																																																																																				PASS	0.458	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			13	204	13	204	---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28202874	28202874	+	Silent	SNP	C	C	T	rs371550945		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:28202874C>T	ENST00000354638.3	-	16	1799	c.1644G>A	c.(1642-1644)aaG>aaA	p.K548K	OCA2_ENST00000353809.5_Silent_p.K524K|OCA2_ENST00000382996.2_Silent_p.K548K	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	548					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.K548N(2)|p.K548K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GAATCTCGTGCTTCAGTTCTG	0.612									Oculocutaneous Albinism																													uc001zbh.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|breast(1)|pancreas(1)	5						c.(1642-1644)AAG>AAA		oculocutaneous albinism II		C		0,4404		0,0,2202	28.0	28.0	28.0		1644	4.7	1.0	15		28	2,8598		0,2,4298	no	coding-synonymous	OCA2	NM_000275.2		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154		548/839	28202874	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28202874C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1644G>A	15.37:g.28202874C>T						OCA2_uc010ayv.2_Silent_p.K524K	p.K548K	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	16	1754	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	548			Cytoplasmic (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.1644G>A	CCDS10020.1																																																																																				PASS	0.612	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		7	62	7	62	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28491051	28491051	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:28491051C>T	ENST00000261609.7	-	23	3661	c.3553G>A	c.(3553-3555)Gag>Aag	p.E1185K		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.E1185K(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGGCTAACTCTTCATGATCA	0.478																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(3553-3555)GAG>AAG		hect domain and RLD 2							158.0	118.0	131.0					15																	28491051		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28491051C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3553G>A	15.37:g.28491051C>T	ENSP00000261609:p.Glu1185Lys						p.E1185K	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	23	3659	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1185						Missense_Mutation	SNP	ENST00000261609.7	37	c.3553G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342907	0.82022	.	.	ENSG00000128731	ENST00000261609	T	0.38240	1.15	5.62	5.62	0.85841	.	0.105737	0.64402	D	0.000007	T	0.23410	0.0566	N	0.08118	0	0.49915	D	0.999839	B	0.31383	0.321	B	0.23852	0.049	T	0.11518	-1.0584	10	0.66056	D	0.02	.	20.0281	0.97530	0.0:1.0:0.0:0.0	.	1185	O95714	HERC2_HUMAN	K	1185	ENSP00000261609:E1185K	ENSP00000261609:E1185K	E	-	1	0	HERC2	26164646	1.000000	0.71417	0.995000	0.50966	0.868000	0.49771	7.776000	0.85560	2.818000	0.97014	0.655000	0.94253	GAG		PASS	0.478	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		22	108	22	108	---	---	---	---
APBA2	321	broad.mit.edu	37	15	29367139	29367139	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:29367139G>T	ENST00000558402.1	+	6	1566	c.967G>T	c.(967-969)Gag>Tag	p.E323*	APBA2_ENST00000558330.1_Nonsense_Mutation_p.E323*|APBA2_ENST00000561069.1_Nonsense_Mutation_p.E323*|APBA2_ENST00000411764.1_Nonsense_Mutation_p.E323*|APBA2_ENST00000558259.1_Nonsense_Mutation_p.E323*			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	323					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.E323*(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)		CAATGGTCTGGAGCAGCCAAG	0.413																																						uc001zck.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(967-969)GAG>TAG		amyloid beta A4 precursor protein-binding,							87.0	80.0	82.0					15																	29367139		2203	4300	6503	SO:0001587	stop_gained	321				nervous system development|protein transport		protein binding	g.chr15:29367139G>T	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.967G>T	15.37:g.29367139G>T	ENSP00000453293:p.Glu323*					APBA2_uc010azj.2_Nonsense_Mutation_p.E323*|APBA2_uc010uat.1_Nonsense_Mutation_p.E323*|APBA2_uc001zcl.2_Nonsense_Mutation_p.E323*|APBA2_uc001zcm.1_Nonsense_Mutation_p.E27*	p.E323*	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)	4	1174	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	323					E9PGI4|O60571|Q5XKC0	Nonsense_Mutation	SNP	ENST00000558402.1	37	c.967G>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	41	8.534922	0.98852	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	15.9522	0.79850	0.0:0.0:1.0:0.0	.	.	.	.	X	323;323;27	.	ENSP00000219865:E323X	E	+	1	0	APBA2	27154431	1.000000	0.71417	0.969000	0.41365	0.997000	0.91878	7.696000	0.84270	2.350000	0.79820	0.655000	0.94253	GAG		PASS	0.413	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		8	56	8	56	---	---	---	---
SCG5	6447	broad.mit.edu	37	15	32935813	32935813	+	Missense_Mutation	SNP	C	C	G	rs201757263		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:32935813C>G	ENST00000300175.4	+	2	130	c.20C>G	c.(19-21)tCt>tGt	p.S7C	SCG5_ENST00000413748.2_Missense_Mutation_p.S7C|SCG5_ENST00000497208.1_Missense_Mutation_p.S7C|SCG5_ENST00000494364.1_Missense_Mutation_p.S7C	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN	secretogranin V (7B2 protein)	7					intracellular protein transport (GO:0006886)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|regulation of hormone secretion (GO:0046883)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	enzyme inhibitor activity (GO:0004857)|GTP binding (GO:0005525)|unfolded protein binding (GO:0051082)	p.S7C(1)		lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		AGGATGGTCTCTACCATGCTA	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19377	0.0		0.0	False		,,,				2504	0.0					uc001zha.2																			1	Substitution - Missense(1)		lung(1)		0						c.(19-21)TCT>TGT		secretogranin V isoform 1							148.0	142.0	144.0					15																	32935813		1948	4161	6109	SO:0001583	missense	6447				intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	enzyme inhibitor activity|GTP binding|unfolded protein binding	g.chr15:32935813C>G	Y00757	CCDS45207.1, CCDS45208.1	15q13-q14	2006-03-20	2006-03-20	2006-03-20	ENSG00000166922	ENSG00000166922			10816	protein-coding gene	gene with protein product	"""prohormone convertase chaperone"""	173120	"""secretory granule, neuroendocrine protein 1 (7B2 protein)"""	SGNE1		8162254, 12646671	Standard	NM_003020		Approved	7B2, SgV	uc001zha.2	P05408	OTTHUMG00000159447	ENST00000300175.4:c.20C>G	15.37:g.32935813C>G	ENSP00000300175:p.Ser7Cys					SCG5_uc001zgz.2_Missense_Mutation_p.S7C	p.S7C	NM_001144757	NP_001138229	P05408	7B2_HUMAN		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)	2	137	+		all_lung(180;7.32e-08)	7					P01164|Q6FHD0|Q9BS38	Missense_Mutation	SNP	ENST00000300175.4	37	c.20C>G	CCDS45207.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340595	0.24339	.	.	ENSG00000166922	ENST00000300175;ENST00000413748;ENST00000494364;ENST00000497208	.	.	.	5.18	-1.2	0.09554	.	0.794892	0.12504	N	0.463115	T	0.24736	0.0600	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.15752	-1.0426	9	0.54805	T	0.06	.	6.2285	0.20722	0.0:0.3674:0.321:0.3116	.	7;7	P05408;Q6FHD0	7B2_HUMAN;.	C	7	.	ENSP00000300175:S7C	S	+	2	0	SCG5	30723105	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.015000	0.12634	-0.378000	0.07918	-1.654000	0.00755	TCT		PASS	0.463	SCG5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355438.1	NM_003020		70	201	70	201	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33895559	33895559	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:33895559T>G	ENST00000389232.4	+	18	2228	c.2158T>G	c.(2158-2160)Tgg>Ggg	p.W720G	RYR3_ENST00000415757.3_Missense_Mutation_p.W720G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	720	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.W720G(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACTTCACCTTTGGTCAGGTGA	0.468																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(2158-2160)TGG>GGG		ryanodine receptor 3							225.0	233.0	230.0					15																	33895559		2095	4227	6322	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33895559T>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2158T>G	15.37:g.33895559T>G	ENSP00000373884:p.Trp720Gly					RYR3_uc010bar.2_Missense_Mutation_p.W720G	p.W720G	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	18	2228	+		all_lung(180;7.18e-09)	720			Cytoplasmic (By similarity).|B30.2/SPRY 1.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.2158T>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.186929	0.78789	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.70164	-0.46;-0.46	5.42	5.42	0.78866	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.82995	0.5158	M	0.83852	2.665	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.994;0.998	D	0.85784	0.1363	10	0.87932	D	0	.	15.6795	0.77357	0.0:0.0:0.0:1.0	.	720;720	Q15413-2;Q15413	.;RYR3_HUMAN	G	720	ENSP00000373884:W720G;ENSP00000399610:W720G	ENSP00000354735:W720G	W	+	1	0	RYR3	31682851	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.776000	0.85560	2.284000	0.76573	0.524000	0.50904	TGG		PASS	0.468	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			101	327	101	327	---	---	---	---
NUTM1	256646	broad.mit.edu	37	15	34647258	34647258	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:34647258C>G	ENST00000333756.4	+	6	1470	c.1315C>G	c.(1315-1317)Ctg>Gtg	p.L439V	NUTM1_ENST00000537011.1_Missense_Mutation_p.L467V|NUTM1_ENST00000438749.3_Missense_Mutation_p.L457V	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	439						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L439V(1)									TCTGGCAGATCTGCTGTCCCC	0.473																																						uc001zif.2										T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	1	Substitution - Missense(1)		lung(1)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(1315-1317)CTG>GTG		nuclear protein in testis							131.0	130.0	130.0					15																	34647258		2201	4298	6499	SO:0001583	missense	256646					cytoplasm|nucleus		g.chr15:34647258C>G	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.1315C>G	15.37:g.34647258C>G	ENSP00000329448:p.Leu439Val					C15orf55_uc010ucc.1_Missense_Mutation_p.L467V|C15orf55_uc010ucd.1_Missense_Mutation_p.L457V	p.L439V	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	6	1470	+		all_lung(180;2.78e-08)	439					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.1315C>G	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.684961	0.29872	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.10860	2.83;2.86;2.87	5.45	-1.67	0.08238	Nuclear Testis protein, C-terminal (1);	0.538057	0.15524	N	0.257872	T	0.07143	0.0181	L	0.43701	1.375	0.26004	N	0.982089	B;B;B	0.32283	0.248;0.084;0.362	B;B;B	0.33568	0.137;0.028;0.166	T	0.27123	-1.0083	10	0.45353	T	0.12	.	0.2877	0.00253	0.2367:0.2644:0.1614:0.3375	.	457;467;439	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	V	467;457;308;439	ENSP00000444896:L467V;ENSP00000407031:L457V;ENSP00000329448:L439V	ENSP00000329448:L439V	L	+	1	2	C15orf55	32434550	0.551000	0.26497	0.921000	0.36526	0.998000	0.95712	-0.187000	0.09656	-0.214000	0.10078	0.655000	0.94253	CTG		PASS	0.473	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		32	175	32	175	---	---	---	---
CHP1	11261	broad.mit.edu	37	15	41555038	41555038	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:41555038G>A	ENST00000334660.5	+	4	546	c.306G>A	c.(304-306)gtG>gtA	p.V102V	CHP1_ENST00000560397.1_Silent_p.V102V|CHP1_ENST00000558351.1_3'UTR	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	102					calcium ion-dependent exocytosis (GO:0017156)|cellular response to acidic pH (GO:0071468)|cytoplasmic microtubule organization (GO:0031122)|membrane docking (GO:0022406)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|microtubule bundle formation (GO:0001578)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of protein transport (GO:0051222)|positive regulation of sodium:proton antiporter activity (GO:0032417)|potassium ion transport (GO:0006813)|protein export from nucleus (GO:0006611)|protein oligomerization (GO:0051259)|protein stabilization (GO:0050821)|regulation of intracellular pH (GO:0051453)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|kinase binding (GO:0019900)|microtubule binding (GO:0008017)|potassium channel regulator activity (GO:0015459)|protein kinase inhibitor activity (GO:0004860)|transporter activity (GO:0005215)	p.V102V(1)									GCAAAGATGTGAATGGACCCG	0.413																																						uc001znl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(304-306)GTG>GTA		calcium binding protein P22							124.0	105.0	112.0					15																	41555038		2203	4300	6503	SO:0001819	synonymous_variant	11261				potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity	g.chr15:41555038G>A		CCDS10073.1	15q13.3	2013-01-11	2013-01-11		ENSG00000187446	ENSG00000187446		"""EF-hand domain containing"""	17433	protein-coding gene	gene with protein product	"""calcineurin homologous protein"""	606988				15987692, 20720019	Standard	NM_007236		Approved	Sid470p, CHP, SLC9A1BP, p22, p24	uc001znl.3	Q99653	OTTHUMG00000130233	ENST00000334660.5:c.306G>A	15.37:g.41555038G>A							p.V102V	NM_007236	NP_009167	Q99653	CHP1_HUMAN		GBM - Glioblastoma multiforme(113;1.68e-06)|LUSC - Lung squamous cell carcinoma(244;0.008)|Lung(196;0.00802)|BRCA - Breast invasive adenocarcinoma(123;0.169)	4	450	+		all_cancers(109;1.19e-18)|all_epithelial(112;5.87e-16)|Lung NSC(122;8.86e-12)|all_lung(180;2.47e-10)|Melanoma(134;0.0574)|Colorectal(260;0.0946)|Ovarian(310;0.143)	102					B2R6H9|Q6FHZ9	Silent	SNP	ENST00000334660.5	37	c.306G>A	CCDS10073.1																																																																																				PASS	0.413	CHP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252554.2	NM_007236		35	107	35	107	---	---	---	---
RPAP1	26015	broad.mit.edu	37	15	41812753	41812753	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:41812753A>T	ENST00000304330.4	-	22	3747	c.3631T>A	c.(3631-3633)Tat>Aat	p.Y1211N	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1211	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.Y1211N(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AAGTTGGCATAGAGGTCAGGG	0.592																																						uc001zod.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(3631-3633)TAT>AAT		RNA polymerase II associated protein 1							73.0	74.0	74.0					15																	41812753		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41812753A>T	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.3631T>A	15.37:g.41812753A>T	ENSP00000306123:p.Tyr1211Asn					RPAP1_uc001zoc.2_Missense_Mutation_p.Y230N	p.Y1211N	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	22	3755	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1211			Leu-rich.		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.3631T>A	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.551962	0.86127	.	.	ENSG00000103932	ENST00000304330	T	0.32988	1.43	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	M	0.68593	2.085	0.58432	D	0.999998	D	0.76494	0.999	D	0.87578	0.998	T	0.58103	-0.7695	10	0.87932	D	0	-5.6293	15.6246	0.76845	1.0:0.0:0.0:0.0	.	1211	Q9BWH6	RPAP1_HUMAN	N	1211	ENSP00000306123:Y1211N	ENSP00000306123:Y1211N	Y	-	1	0	RPAP1	39600045	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.072000	0.93986	2.272000	0.75746	0.460000	0.39030	TAT		PASS	0.592	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		9	51	9	51	---	---	---	---
PLA2G4B	100137049	broad.mit.edu	37	15	42139651	42139651	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:42139651C>T	ENST00000452633.1	+	20	2416	c.2064C>T	c.(2062-2064)acC>acT	p.T688T	PLA2G4B_ENST00000542534.2_Silent_p.T919T|JMJD7-PLA2G4B_ENST00000342159.4_Intron|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.T919T|PLA2G4B_ENST00000458483.1_Silent_p.T688T			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	688	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)	p.T919T(1)					all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CCGACCCCACCTGCCCCGGAG	0.677																																						uc010bco.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(2062-2064)ACC>ACT		phospholipase A2, group IVB							81.0	87.0	85.0					15																	42139651		2203	4300	6503	SO:0001819	synonymous_variant	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42139651C>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.2064C>T	15.37:g.42139651C>T						JMJD7-PLA2G4B_uc001zoo.3_Silent_p.T919T|JMJD7-PLA2G4B_uc010bcn.2_Intron|JMJD7-PLA2G4B_uc001zoq.3_Silent_p.T389T	p.T688T	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN			19	2165	+			688			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	ENST00000452633.1	37	c.2064C>T	CCDS45241.1																																																																																				PASS	0.677	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		11	180	11	180	---	---	---	---
SPTBN5	51332	broad.mit.edu	37	15	42178428	42178428	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:42178428C>T	ENST00000320955.6	-	7	1252	c.1025G>A	c.(1024-1026)cGg>cAg	p.R342Q		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	342					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.R342Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CAGTAGCTGCCGCATGGCGGG	0.632																																						uc001zos.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(919-921)CGG>CAG		spectrin, beta, non-erythrocytic 5							25.0	29.0	28.0					15																	42178428		1999	4185	6184	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42178428C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.1025G>A	15.37:g.42178428C>T	ENSP00000317790:p.Arg342Gln						p.R307Q	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	7	1253	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	342			Spectrin 1.			Missense_Mutation	SNP	ENST00000320955.6	37	c.920G>A		.	.	.	.	.	.	.	.	.	.	C	16.75	3.210067	0.58343	.	.	ENSG00000137877	ENST00000320955	T	0.65178	-0.14	4.84	4.84	0.62591	.	0.253231	0.33875	N	0.004463	T	0.39200	0.1069	N	0.15975	0.35	0.27287	N	0.957935	P	0.40282	0.711	B	0.30572	0.117	T	0.31971	-0.9924	10	0.08179	T	0.78	.	17.574	0.87943	0.0:1.0:0.0:0.0	.	342	Q9NRC6	SPTN5_HUMAN	Q	342	ENSP00000317790:R342Q	ENSP00000317790:R342Q	R	-	2	0	SPTBN5	39965720	0.987000	0.35691	0.951000	0.38953	0.002000	0.02628	1.853000	0.39358	2.245000	0.73994	0.655000	0.94253	CGG		PASS	0.632	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		6	17	6	17	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42727711	42727711	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:42727711C>T	ENST00000263805.4	-	11	5009	c.4683G>A	c.(4681-4683)cgG>cgA	p.R1561R	ZNF106_ENST00000565380.1_Silent_p.R789R|ZNF106_ENST00000565611.1_Silent_p.R746R	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1561					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1561R(1)									CAATACATTTCCGACTCTAAA	0.408																																						uc001zpw.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(4681-4683)CGG>CGA		zinc finger protein 106 homolog							114.0	109.0	111.0					15																	42727711		2203	4299	6502	SO:0001819	synonymous_variant	64397					nucleolus	zinc ion binding	g.chr15:42727711C>T	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4683G>A	15.37:g.42727711C>T						ZFP106_uc001zpu.2_Silent_p.R659R|ZFP106_uc001zpv.2_Silent_p.R746R|ZFP106_uc001zpx.2_Silent_p.R789R	p.R1561R	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN		GBM - Glioblastoma multiforme(94;8.6e-07)	11	5018	-		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)	1561			WD 1.		B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	c.4683G>A	CCDS32208.1																																																																																				PASS	0.408	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		12	196	12	196	---	---	---	---
CDAN1	146059	broad.mit.edu	37	15	43026155	43026155	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:43026155G>A	ENST00000356231.3	-	8	1371	c.1348C>T	c.(1348-1350)Cat>Tat	p.H450Y		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	450					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.H450Y(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TTAAAAGTATGAAAGGCTCGG	0.433																																						uc001zql.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1348-1350)CAT>TAT		codanin 1							87.0	88.0	87.0					15																	43026155		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43026155G>A	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1348C>T	15.37:g.43026155G>A	ENSP00000348564:p.His450Tyr					CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_RNA	p.H450Y	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	8	1465	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	450					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.1348C>T	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914474	0.92178	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.89196	-2.48	5.8	5.8	0.92144	.	0.098404	0.64402	D	0.000001	D	0.94761	0.8309	M	0.78049	2.395	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.94701	0.7883	10	0.87932	D	0	-12.4527	20.0706	0.97721	0.0:0.0:1.0:0.0	.	450	Q8IWY9	CDAN1_HUMAN	Y	450;448	ENSP00000348564:H450Y	ENSP00000267892:H448Y	H	-	1	0	CDAN1	40813447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.879000	0.92398	2.744000	0.94065	0.655000	0.94253	CAT		PASS	0.433	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		13	51	13	51	---	---	---	---
ZSCAN29	146050	broad.mit.edu	37	15	43662016	43662016	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:43662016C>T	ENST00000396976.2	-	1	230	c.96G>A	c.(94-96)ccG>ccA	p.P32P	ZSCAN29_ENST00000568898.1_Silent_p.P31P|TUBGCP4_ENST00000570081.1_Intron|ZSCAN29_ENST00000396972.1_Silent_p.P32P|ZSCAN29_ENST00000562072.1_Silent_p.P31P|ZSCAN29_ENST00000563508.1_5'Flank|TUBGCP4_ENST00000564079.1_5'Flank|TUBGCP4_ENST00000260383.7_5'Flank	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	32	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P32P(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		AAGCCTCCCGCGGCCCAGCCA	0.532																																						uc001zrk.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(94-96)CCG>CCA		zinc finger protein 690							67.0	70.0	69.0					15																	43662016		2201	4299	6500	SO:0001819	synonymous_variant	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43662016C>T	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.96G>A	15.37:g.43662016C>T						ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdf.1_Silent_p.P31P|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Silent_p.P31P|ZSCAN29_uc001zrm.2_Silent_p.P31P|TUBGCP4_uc001zrn.2_5'Flank|TUBGCP4_uc001zro.2_5'Flank	p.P32P	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	1	243	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	32			SCAN box.		B3KVB9|Q32M75|Q32M76|Q8NA40	Silent	SNP	ENST00000396976.2	37	c.96G>A	CCDS10095.2																																																																																				PASS	0.532	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		5	122	5	122	---	---	---	---
WDR76	79968	broad.mit.edu	37	15	44149268	44149268	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:44149268C>T	ENST00000263795.6	+	10	1386	c.1316C>T	c.(1315-1317)tCt>tTt	p.S439F	WDR76_ENST00000381246.2_Missense_Mutation_p.S375F	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	439								p.S439F(1)		breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CCTGGAACTTCTTATGAGAAA	0.428																																						uc001zti.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1315-1317)TCT>TTT		WD repeat domain 76							96.0	87.0	90.0					15																	44149268		2198	4298	6496	SO:0001583	missense	79968							g.chr15:44149268C>T	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1316C>T	15.37:g.44149268C>T	ENSP00000263795:p.Ser439Phe						p.S439F	NM_024908	NP_079184	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	10	1339	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	439			WD 3.		A0MNP5|Q05CI4	Missense_Mutation	SNP	ENST00000263795.6	37	c.1316C>T	CCDS10106.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018539	0.75275	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	T;T	0.67345	-0.26;-0.26	5.12	5.12	0.69794	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.062472	0.64402	D	0.000003	T	0.81574	0.4851	M	0.84683	2.71	0.53688	D	0.99997	D	0.61080	0.989	P	0.61328	0.887	D	0.83492	0.0070	10	0.56958	D	0.05	-26.7585	15.7577	0.78046	0.0:1.0:0.0:0.0	.	439	Q9H967	WDR76_HUMAN	F	439;375	ENSP00000263795:S439F;ENSP00000370645:S375F	ENSP00000263795:S439F	S	+	2	0	WDR76	41936560	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	4.933000	0.63484	2.820000	0.97059	0.650000	0.86243	TCT		PASS	0.428	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	NM_024908		10	132	10	132	---	---	---	---
DUOX1	53905	broad.mit.edu	37	15	45444182	45444182	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:45444182G>T	ENST00000321429.4	+	25	3532	c.3125G>T	c.(3124-3126)cGg>cTg	p.R1042L	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.R1042L|DUOX1_ENST00000561166.1_Missense_Mutation_p.R688L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1042	Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.R1042L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GAGAACTACCGGCGCCACATC	0.587																																						uc001zus.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(3124-3126)CGG>CTG		dual oxidase 1 precursor							58.0	55.0	56.0					15																	45444182		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45444182G>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3125G>T	15.37:g.45444182G>T	ENSP00000317997:p.Arg1042Leu					DUOX1_uc001zut.1_Missense_Mutation_p.R1042L|DUOX1_uc010bee.1_Missense_Mutation_p.R422L|DUOX1_uc001zuu.2_Missense_Mutation_p.R184L	p.R1042L	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	25	3471	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1042			Cytoplasmic (Potential).|Interaction with TXNDC11 (By similarity).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.3125G>T	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171018	0.94807	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.86694	-2.16;-2.16	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	D	0.92156	0.7513	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.985	D	0.91897	0.5528	10	0.45353	T	0.12	-29.5786	14.3394	0.66614	0.0:0.0:1.0:0.0	.	175;1042	Q9NT13;Q9NRD9	.;DUOX1_HUMAN	L	1042	ENSP00000317997:R1042L;ENSP00000373689:R1042L	ENSP00000317997:R1042L	R	+	2	0	DUOX1	43231474	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.660000	0.83776	2.302000	0.77476	0.655000	0.94253	CGG		PASS	0.587	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		3	64	3	64	---	---	---	---
SLC30A4	7782	broad.mit.edu	37	15	45779760	45779760	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:45779760C>T	ENST00000261867.4	-	6	1279	c.965G>A	c.(964-966)cGa>cAa	p.R322Q	RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	322					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)	p.R322Q(2)		endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		CCATATGATTCGAAATGTTGT	0.348																																						uc001zvj.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(964-966)CGA>CAA		solute carrier family 30 (zinc transporter),							124.0	130.0	128.0					15																	45779760		2198	4297	6495	SO:0001583	missense	7782				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity	g.chr15:45779760C>T		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"""Solute carriers"""	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.965G>A	15.37:g.45779760C>T	ENSP00000261867:p.Arg322Gln						p.R322Q	NM_013309	NP_037441	O14863	ZNT4_HUMAN		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)	6	1277	-		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	322			Helical; (Potential).		Q8TC39	Missense_Mutation	SNP	ENST00000261867.4	37	c.965G>A	CCDS10125.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300857	0.60195	.	.	ENSG00000104154	ENST00000261867	T	0.64618	-0.11	6.03	5.11	0.69529	.	0.051596	0.85682	D	0.000000	T	0.48677	0.1513	L	0.45137	1.4	0.52099	D	0.999941	P	0.43094	0.799	B	0.34180	0.177	T	0.46289	-0.9202	10	0.14252	T	0.57	-3.3258	14.091	0.64990	0.0:0.9276:0.0:0.0724	.	322	O14863	ZNT4_HUMAN	Q	322	ENSP00000261867:R322Q	ENSP00000261867:R322Q	R	-	2	0	SLC30A4	43567052	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.450000	0.60041	1.563000	0.49615	-0.140000	0.14226	CGA		PASS	0.348	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1			55	123	55	123	---	---	---	---
SLC12A1	6557	broad.mit.edu	37	15	48541786	48541786	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:48541786A>G	ENST00000558405.1	+	13	1713	c.1699A>G	c.(1699-1701)Att>Gtt	p.I567V	SLC12A1_ENST00000396577.3_Missense_Mutation_p.I567V|SLC12A1_ENST00000380993.3_Missense_Mutation_p.I567V			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	567					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.I567V(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ACTGAACACCATTGCTCCCAT	0.433																																						uc001zwn.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1699-1701)ATT>GTT		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						297.0	234.0	255.0					15																	48541786		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48541786A>G		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1699A>G	15.37:g.48541786A>G	ENSP00000453409:p.Ile567Val					SLC12A1_uc010uew.1_Missense_Mutation_p.I373V|SLC12A1_uc010bem.2_Missense_Mutation_p.I567V|SLC12A1_uc001zwq.3_Missense_Mutation_p.I338V|SLC12A1_uc001zwr.3_Missense_Mutation_p.I294V	p.I567V	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	14	1915	+		all_lung(180;0.00219)	567			Helical; (Potential).		A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.1699A>G	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	A	21.1	4.092069	0.76756	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577	D;D	0.98822	-5.16;-5.16	5.69	5.69	0.88448	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98943	0.9641	M	0.72118	2.19	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.85130	0.997;0.981	D	0.99857	1.1078	10	0.59425	D	0.04	.	15.9365	0.79712	1.0:0.0:0.0:0.0	.	567;567	E9PDW4;Q13621	.;S12A1_HUMAN	V	380;567;567	ENSP00000370381:I567V;ENSP00000379822:I567V	ENSP00000370381:I567V	I	+	1	0	SLC12A1	46329078	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.339000	0.96797	2.167000	0.68274	0.455000	0.32223	ATT		PASS	0.433	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			29	104	29	104	---	---	---	---
SLC12A1	6557	broad.mit.edu	37	15	48591428	48591428	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:48591428C>A	ENST00000558405.1	+	24	3066	c.3052C>A	c.(3052-3054)Ccg>Acg	p.P1018T	SLC12A1_ENST00000396577.3_Missense_Mutation_p.P1018T|SLC12A1_ENST00000380993.3_Missense_Mutation_p.P1018T			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	1018					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.P1018T(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AAGAGAAACTCCGTGGAAAAT	0.353																																						uc001zwn.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(3052-3054)CCG>ACG		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						44.0	47.0	46.0					15																	48591428		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48591428C>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.3052C>A	15.37:g.48591428C>A	ENSP00000453409:p.Pro1018Thr					SLC12A1_uc001zwq.3_Missense_Mutation_p.P789T|SLC12A1_uc001zwr.3_Missense_Mutation_p.P745T	p.P1018T	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	25	3268	+		all_lung(180;0.00219)	1018			Cytoplasmic (Potential).		A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.3052C>A	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602687	0.87157	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.85171	-1.95;-1.95	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.90559	0.7041	L	0.56199	1.76	0.80722	D	1	D;D	0.64830	0.966;0.994	P;P	0.62435	0.656;0.902	D	0.90131	0.4206	10	0.66056	D	0.02	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	1018;1018	E9PDW4;Q13621	.;S12A1_HUMAN	T	1018	ENSP00000370381:P1018T;ENSP00000379822:P1018T	ENSP00000370381:P1018T	P	+	1	0	SLC12A1	46378720	1.000000	0.71417	0.989000	0.46669	0.947000	0.59692	7.711000	0.84669	2.873000	0.98535	0.563000	0.77884	CCG		PASS	0.353	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			12	29	12	29	---	---	---	---
TRPM7	54822	broad.mit.edu	37	15	50904981	50904981	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:50904981C>T	ENST00000313478.7	-	16	2097	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	TRPM7_ENST00000560955.1_Missense_Mutation_p.E606K	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	606					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E606K(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCTACAATTTCATCTTTGGTT	0.358																																						uc001zyt.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10						c.(1816-1818)GAA>AAA		transient receptor potential cation channel,							200.0	197.0	198.0					15																	50904981		1819	4077	5896	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50904981C>T	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1816G>A	15.37:g.50904981C>T	ENSP00000320239:p.Glu606Lys					TRPM7_uc010bew.1_Missense_Mutation_p.E606K|TRPM7_uc001zyu.2_Missense_Mutation_p.E164K	p.E606K	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	16	2080	-			606			Cytoplasmic (Potential).		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.1816G>A	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827072	0.71143	.	.	ENSG00000092439	ENST00000313478	T	0.73469	-0.75	5.44	5.44	0.79542	.	0.332477	0.33980	N	0.004361	T	0.66307	0.2776	L	0.41027	1.25	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.62015	-0.6943	10	0.08381	T	0.77	-16.2932	19.6377	0.95744	0.0:1.0:0.0:0.0	.	606	Q96QT4	TRPM7_HUMAN	K	606	ENSP00000320239:E606K	ENSP00000320239:E606K	E	-	1	0	TRPM7	48692273	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.988000	0.70579	2.719000	0.93026	0.585000	0.79938	GAA		PASS	0.358	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		25	183	25	183	---	---	---	---
CCPG1	9236	broad.mit.edu	37	15	55651990	55651990	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:55651990G>A	ENST00000310958.6	-	8	2279	c.1981C>T	c.(1981-1983)Caa>Taa	p.Q661*	CCPG1_ENST00000442196.3_Nonsense_Mutation_p.Q661*|CCPG1_ENST00000569205.1_Nonsense_Mutation_p.Q661*|CCPG1_ENST00000425574.3_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	661					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)		p.Q661*(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		ATGTACCTTTGAATTATCTGT	0.358																																						uc002acv.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1981-1983)CAA>TAA		cell cycle progression 1 isoform 2							72.0	66.0	67.0					15																	55651990		1843	4077	5920	SO:0001587	stop_gained	9236				cell cycle	integral to membrane		g.chr15:55651990G>A	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1981C>T	15.37:g.55651990G>A	ENSP00000311656:p.Gln661*					CCPG1_uc002acy.2_Nonsense_Mutation_p.Q661*|CCPG1_uc002acu.1_Nonsense_Mutation_p.Q517*|CCPG1_uc002acw.1_Nonsense_Mutation_p.Q386*|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Nonsense_Mutation_p.Q661*|CCPG1_uc002acz.1_Nonsense_Mutation_p.Q661*	p.Q661*	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	8	2146	-			661			Lumenal (Potential).		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Nonsense_Mutation	SNP	ENST00000310958.6	37	c.1981C>T	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	G	9.146	1.014941	0.19355	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	.	.	.	5.62	-1.84	0.07809	.	0.751962	0.13818	N	0.360614	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.5086	0.87754	0.0:0.1592:0.7666:0.0742	.	.	.	.	X	661	.	ENSP00000311656:Q661X	Q	-	1	0	DYX1C1	53439282	0.489000	0.26004	0.004000	0.12327	0.150000	0.21749	1.299000	0.33424	-0.201000	0.10284	-0.175000	0.13238	CAA		PASS	0.358	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		14	80	14	80	---	---	---	---
CCPG1	9236	broad.mit.edu	37	15	55669255	55669255	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:55669255C>T	ENST00000310958.6	-	5	644	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	CCPG1_ENST00000442196.3_Missense_Mutation_p.E116K|CCPG1_ENST00000569205.1_Missense_Mutation_p.E116K|CCPG1_ENST00000425574.3_Missense_Mutation_p.E116K|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	116	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)		p.E116K(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTTCCAATTTCTTCTAACTTA	0.413																																						uc002acv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(346-348)GAA>AAA		cell cycle progression 1 isoform 2							129.0	120.0	123.0					15																	55669255		1833	4094	5927	SO:0001583	missense	9236				cell cycle	integral to membrane		g.chr15:55669255C>T	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.346G>A	15.37:g.55669255C>T	ENSP00000311656:p.Glu116Lys					CCPG1_uc002acy.2_Missense_Mutation_p.E116K|DYX1C1_uc010ugh.1_RNA|CCPG1_uc002acw.1_5'UTR|CCPG1_uc002acx.2_Missense_Mutation_p.E116K|CCPG1_uc010bfk.1_Missense_Mutation_p.E116K|CCPG1_uc002acz.1_Missense_Mutation_p.E116K	p.E116K	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	5	511	-			116			Cytoplasmic (Potential).|Interaction with MCF2L and SRC (By similarity).		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	c.346G>A	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264386	0.80358	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	T;T;T	0.22743	3.49;3.49;1.94	5.31	4.39	0.52855	.	0.316408	0.33534	N	0.004818	T	0.39911	0.1096	M	0.75447	2.3	0.39994	D	0.975075	P;D;P	0.56968	0.929;0.978;0.929	P;P;P	0.56343	0.521;0.796;0.521	T	0.40739	-0.9547	10	0.59425	D	0.04	.	13.1998	0.59761	0.0:0.9233:0.0:0.0767	.	116;116;116	A8K9T0;Q9ULG6-3;Q9ULG6	.;.;CCPG1_HUMAN	K	116	ENSP00000311656:E116K;ENSP00000403400:E116K;ENSP00000415128:E116K	ENSP00000311656:E116K	E	-	1	0	DYX1C1	53456547	1.000000	0.71417	0.970000	0.41538	0.918000	0.54935	5.496000	0.66918	1.227000	0.43598	0.650000	0.86243	GAA		PASS	0.413	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		30	210	30	210	---	---	---	---
ALDH1A2	8854	broad.mit.edu	37	15	58247467	58247467	+	Splice_Site	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:58247467C>A	ENST00000249750.4	-	13	2252	c.1485G>T	c.(1483-1485)atG>atT	p.M495I	ALDH1A2_ENST00000537372.1_Splice_Site_p.M474I|ALDH1A2_ENST00000347587.3_Splice_Site_p.M457I|ALDH1A2_ENST00000559517.1_Splice_Site_p.M399I|ALDH1A2_ENST00000558231.1_Splice_Site_p.M466I	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	495					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)	p.M495I(2)|p.?(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	CAAATTCTCCCCTGAAACACA	0.537																																						uc002aex.2																			3	Substitution - Missense(2)|Unknown(1)		lung(3)	central_nervous_system(1)	1						c.(1483-1485)ATG>ATT		aldehyde dehydrogenase 1A2 isoform 1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						104.0	106.0	105.0					15																	58247467		2192	4292	6484	SO:0001630	splice_region_variant	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58247467C>A	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.1485-1G>T	15.37:g.58247467C>A						ALDH1A2_uc002aey.2_Missense_Mutation_p.M457I|ALDH1A2_uc010ugv.1_Missense_Mutation_p.M474I|ALDH1A2_uc010ugw.1_Missense_Mutation_p.M466I|ALDH1A2_uc002aew.2_Missense_Mutation_p.M399I	p.M495I	NM_003888	NP_003879	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	13	1543	-			495					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.1485G>T	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.236284	0.39498	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.14893	2.47;2.47;2.47	5.95	5.95	0.96441	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.044322	0.85682	D	0.000000	T	0.27241	0.0668	M	0.63428	1.95	0.53688	D	0.999975	B;B;B;B	0.26147	0.087;0.124;0.12;0.143	B;B;B;B	0.32724	0.099;0.097;0.094;0.151	T	0.02378	-1.1168	10	0.72032	D	0.01	.	19.3813	0.94536	0.0:1.0:0.0:0.0	.	466;474;457;495	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	I	495;399;466;457;474	ENSP00000249750:M495I;ENSP00000309623:M457I;ENSP00000438296:M474I	ENSP00000249750:M495I	M	-	3	0	ALDH1A2	56034759	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	3.979000	0.56888	2.824000	0.97209	0.655000	0.94253	ATG		PASS	0.537	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1		Missense_Mutation	43	152	43	152	---	---	---	---
ADAM10	102	broad.mit.edu	37	15	58925402	58925402	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:58925402C>A	ENST00000260408.3	-	9	1612	c.1169G>T	c.(1168-1170)gGa>gTa	p.G390V	ADAM10_ENST00000396140.2_Missense_Mutation_p.G89V|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	390	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.G390V(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TACTGGGGATCCAAAGTTATG	0.318																																						uc002afd.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1168-1170)GGA>GTA		ADAM metallopeptidase domain 10 precursor							74.0	72.0	73.0					15																	58925402		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58925402C>A	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1169G>T	15.37:g.58925402C>A	ENSP00000260408:p.Gly390Val					ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.G89V|ADAM10_uc002afe.1_Intron	p.G390V	NM_001110	NP_001101	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	9	1613	-			390			Peptidase M12B.|Extracellular (Potential).		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.1169G>T	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695738	0.88830	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	D;D	0.99194	-5.54;-5.54	5.82	5.82	0.92795	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98054	1.0389	10	0.87932	D	0	-15.9987	20.0991	0.97865	0.0:1.0:0.0:0.0	.	89;390	B4DU28;O14672	.;ADA10_HUMAN	V	390;209;89	ENSP00000260408:G390V;ENSP00000379444:G89V	ENSP00000260408:G390V	G	-	2	0	ADAM10	56712694	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.752000	0.94435	0.655000	0.94253	GGA		PASS	0.318	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		11	62	11	62	---	---	---	---
MYO1E	4643	broad.mit.edu	37	15	59519720	59519720	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:59519720G>C	ENST00000288235.4	-	7	979	c.580C>G	c.(580-582)Ctg>Gtg	p.L194V	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	194	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)	p.L194V(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GATTTTTCCAGAAGGAAGTTG	0.443																																						uc002aga.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)	3						c.(580-582)CTG>GTG		myosin IE							109.0	108.0	109.0					15																	59519720		2190	4290	6480	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59519720G>C	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.580C>G	15.37:g.59519720G>C	ENSP00000288235:p.Leu194Val						p.L194V	NM_004998	NP_004989	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	7	952	-			194			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.580C>G	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308051	0.81247	.	.	ENSG00000157483	ENST00000288235	D	0.96685	-4.09	6.02	6.02	0.97574	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.99174	0.9714	H	0.99834	4.825	0.80722	D	1	D	0.56287	0.975	P	0.62014	0.897	D	0.98457	1.0594	10	0.87932	D	0	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	194	Q12965	MYO1E_HUMAN	V	194	ENSP00000288235:L194V	ENSP00000288235:L194V	L	-	1	2	MYO1E	57307012	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.558000	0.67319	2.865000	0.98341	0.655000	0.94253	CTG		PASS	0.443	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		52	120	52	120	---	---	---	---
GCNT3	9245	broad.mit.edu	37	15	59911741	59911741	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:59911741G>A	ENST00000396065.1	+	3	1752	c.1304G>A	c.(1303-1305)gGg>gAg	p.G435E	GCNT3_ENST00000560585.1_Missense_Mutation_p.G435E	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	435					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.G435E(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCATCTATGGGACTGAACTT	0.468																																						uc002age.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1303-1305)GGG>GAG		glucosaminyl (N-acetyl) transferase 3, mucin							145.0	149.0	147.0					15																	59911741		2190	4290	6480	SO:0001583	missense	9245				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr15:59911741G>A	AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.1304G>A	15.37:g.59911741G>A	ENSP00000379377:p.Gly435Glu					GCNT3_uc002agd.2_Missense_Mutation_p.G435E	p.G435E	NM_004751	NP_004742	O95395	GCNT3_HUMAN			3	1753	+			435			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000396065.1	37	c.1304G>A	CCDS10172.1	.	.	.	.	.	.	.	.	.	.	G	5.626	0.300132	0.10622	.	.	ENSG00000140297	ENST00000396065	T	0.10860	2.83	5.22	3.28	0.37604	.	0.829857	0.11108	N	0.598882	T	0.13500	0.0327	M	0.65975	2.015	0.58432	D	0.999996	B	0.26445	0.149	B	0.23419	0.046	T	0.02893	-1.1097	10	0.23302	T	0.38	.	10.398	0.44211	0.1656:0.0:0.8344:0.0	.	435	O95395	GCNT3_HUMAN	E	435	ENSP00000379377:G435E	ENSP00000379377:G435E	G	+	2	0	GCNT3	57699033	0.999000	0.42202	0.981000	0.43875	0.102000	0.19082	4.577000	0.60922	0.532000	0.28657	0.655000	0.94253	GGG		PASS	0.468	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751		32	261	32	261	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	62993335	62993335	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:62993335G>A	ENST00000561311.1	+	16	1848	c.1618G>A	c.(1618-1620)Gac>Aac	p.D540N	TLN2_ENST00000306829.6_Missense_Mutation_p.D540N			Q9Y4G6	TLN2_HUMAN	talin 2	540					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.D540N(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GAACAAAGTCGACGAATCCAA	0.512																																						uc002alb.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(1618-1620)GAC>AAC		talin 2							116.0	97.0	103.0					15																	62993335		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62993335G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1618G>A	15.37:g.62993335G>A	ENSP00000453508:p.Asp540Asn						p.D540N	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			14	1618	+			540					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.1618G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	35	5.594155	0.96602	.	.	ENSG00000171914	ENST00000306829	T	0.69926	-0.44	5.65	5.65	0.86999	Talin, central (3);	0.000000	0.85682	D	0.000000	T	0.81842	0.4908	M	0.79258	2.445	0.80722	D	1	D	0.69078	0.997	P	0.61874	0.895	T	0.83023	-0.0166	10	0.72032	D	0.01	-28.1852	20.0965	0.97849	0.0:0.0:1.0:0.0	.	540	Q9Y4G6	TLN2_HUMAN	N	540	ENSP00000303476:D540N	ENSP00000303476:D540N	D	+	1	0	TLN2	60780627	1.000000	0.71417	0.510000	0.27712	0.983000	0.72400	9.813000	0.99286	2.824000	0.97209	0.655000	0.94253	GAC		PASS	0.512	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			10	108	10	108	---	---	---	---
CILP	8483	broad.mit.edu	37	15	65489732	65489732	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:65489732C>T	ENST00000261883.4	-	9	3058	c.2892G>A	c.(2890-2892)ctG>ctA	p.L964L		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	964					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.L964L(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CATTCACTTCCAGTGGCCCCA	0.552																																						uc002aon.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(2)|skin(1)	7						c.(2890-2892)CTG>CTA		cartilage intermediate layer protein							103.0	94.0	97.0					15																	65489732		2202	4299	6501	SO:0001819	synonymous_variant	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489732C>T	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2892G>A	15.37:g.65489732C>T							p.L964L	NM_003613	NP_003604	O75339	CILP1_HUMAN			9	3073	-			964					B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	c.2892G>A	CCDS10203.1																																																																																				PASS	0.552	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		22	103	22	103	---	---	---	---
LRRC49	54839	broad.mit.edu	37	15	71188191	71188191	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:71188191G>C	ENST00000260382.5	+	3	369	c.109G>C	c.(109-111)Gaa>Caa	p.E37Q	LRRC49_ENST00000560369.1_Missense_Mutation_p.E42Q|LRRC49_ENST00000443425.2_5'UTR|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.E27Q|LRRC49_ENST00000560691.1_5'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	37						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.E37Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TTTTCAGGTTGAATTCAAGCT	0.308																																						uc002asw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(109-111)GAA>CAA		leucine rich repeat containing 49							64.0	64.0	64.0					15																	71188191		2199	4296	6495	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71188191G>C		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.109G>C	15.37:g.71188191G>C	ENSP00000260382:p.Glu37Gln					LRRC49_uc002asu.2_Missense_Mutation_p.E27Q|LRRC49_uc002asx.2_5'UTR|LRRC49_uc010ukf.1_Missense_Mutation_p.E42Q|LRRC49_uc002asy.2_5'UTR|LRRC49_uc002asz.2_5'UTR	p.E37Q	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN			3	356	+			37					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.109G>C	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247617	0.80024	.	.	ENSG00000137821	ENST00000544974;ENST00000260382	T;T	0.40756	1.05;1.02	5.37	5.37	0.77165	.	0.085031	0.49305	D	0.000149	T	0.34832	0.0911	N	0.24115	0.695	0.80722	D	1	B;B;P	0.39480	0.201;0.201;0.675	B;B;B	0.40444	0.046;0.046;0.329	T	0.14035	-1.0487	10	0.45353	T	0.12	-9.7792	16.9709	0.86298	0.0:0.0:1.0:0.0	.	42;37;27	B7Z366;Q8IUZ0;F5H1J4	.;LRC49_HUMAN;.	Q	27;37	ENSP00000439600:E27Q;ENSP00000260382:E37Q	ENSP00000260382:E37Q	E	+	1	0	LRRC49	68975245	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.160000	0.71862	2.667000	0.90743	0.563000	0.77884	GAA		PASS	0.308	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		14	89	14	89	---	---	---	---
NEO1	4756	broad.mit.edu	37	15	73418810	73418810	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:73418810C>G	ENST00000339362.5	+	5	1224	c.777C>G	c.(775-777)gtC>gtG	p.V259V	NEO1_ENST00000261908.6_Silent_p.V259V|NEO1_ENST00000558964.1_Silent_p.V259V|NEO1_ENST00000560262.1_Silent_p.V259V			Q92859	NEO1_HUMAN	neogenin 1	259	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.V259V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTCCCTTAGTCAGAGTCATTG	0.368																																						uc002avm.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(775-777)GTC>GTG		neogenin homolog 1 precursor							157.0	145.0	149.0					15																	73418810		2198	4297	6495	SO:0001819	synonymous_variant	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73418810C>G	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.777C>G	15.37:g.73418810C>G						NEO1_uc010ukx.1_Silent_p.V259V|NEO1_uc010uky.1_Silent_p.V259V|NEO1_uc010ukz.1_5'UTR	p.V259V	NM_002499	NP_002490	Q92859	NEO1_HUMAN			4	919	+			259			Extracellular (Potential).|Ig-like C2-type 3.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Silent	SNP	ENST00000339362.5	37	c.777C>G	CCDS10247.1																																																																																				PASS	0.368	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		70	190	70	190	---	---	---	---
STOML1	9399	broad.mit.edu	37	15	74281457	74281457	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:74281457G>T	ENST00000316900.5	-	3	506	c.382C>A	c.(382-384)Ccc>Acc	p.P128T	STOML1_ENST00000564777.1_Intron|STOML1_ENST00000541638.1_Missense_Mutation_p.P86T|STOML1_ENST00000316911.6_Intron|STOML1_ENST00000561656.1_Missense_Mutation_p.P41T|STOML1_ENST00000359750.4_Missense_Mutation_p.P128T	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	128						integral component of membrane (GO:0016021)		p.P128T(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						ACCTTGCAGGGAGGGACGTTG	0.597																																						uc002awe.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(382-384)CCC>ACC		stomatin (EPB72)-like 1							54.0	49.0	51.0					15																	74281457		2198	4297	6495	SO:0001583	missense	9399					integral to membrane	sterol binding	g.chr15:74281457G>T	Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"""stomatin-like 1"", ""stomatin (EBP72)-like 1"""	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.382C>A	15.37:g.74281457G>T	ENSP00000319323:p.Pro128Thr					STOML1_uc002awf.2_Missense_Mutation_p.P128T|STOML1_uc010bje.2_Missense_Mutation_p.P128T|STOML1_uc010uld.1_Missense_Mutation_p.P86T|STOML1_uc002awh.2_Intron|STOML1_uc002awg.2_Intron|STOML1_uc002awi.2_Missense_Mutation_p.P41T	p.P128T	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN			3	453	-			128			Cytoplasmic (Potential).		B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Missense_Mutation	SNP	ENST00000316900.5	37	c.382C>A	CCDS10254.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748027	0.49257	.	.	ENSG00000067221	ENST00000316900;ENST00000541638;ENST00000359750	D;D;D	0.94537	-3.45;-3.45;-3.45	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.95909	0.8668	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96645	0.9477	10	0.87932	D	0	-0.0426	16.8208	0.85745	0.0:0.0:1.0:0.0	.	86;128;128;128	B4DUU5;E7ESC0;Q53HB6;Q9UBI4	.;.;.;STML1_HUMAN	T	128;86;128	ENSP00000319323:P128T;ENSP00000442478:P86T;ENSP00000352788:P128T	ENSP00000319323:P128T	P	-	1	0	STOML1	72068510	1.000000	0.71417	0.982000	0.44146	0.004000	0.04260	9.119000	0.94362	2.287000	0.76781	0.467000	0.42956	CCC		PASS	0.597	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269022.1	NM_004809		6	87	6	87	---	---	---	---
MAN2C1	4123	broad.mit.edu	37	15	75655061	75655061	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:75655061C>G	ENST00000267978.5	-	7	865	c.819G>C	c.(817-819)gtG>gtC	p.V273V	MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000563622.1_Intron|MAN2C1_ENST00000569482.1_Silent_p.V273V|MAN2C1_ENST00000565683.1_Silent_p.V273V	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	273					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.V273V(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CACATTTCCTCACAGTCTCTT	0.622																																						uc002baf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(817-819)GTG>GTC		mannosidase, alpha, class 2C, member 1							69.0	70.0	70.0					15																	75655061		2197	4294	6491	SO:0001819	synonymous_variant	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75655061C>G	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.819G>C	15.37:g.75655061C>G						MAN2C1_uc002bag.2_Silent_p.V273V|MAN2C1_uc002bah.2_Silent_p.V273V|MAN2C1_uc010bkk.2_Intron|MAN2C1_uc010umi.1_Silent_p.V55V|MAN2C1_uc010umj.1_RNA	p.V273V	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN			7	836	-			273					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Silent	SNP	ENST00000267978.5	37	c.819G>C	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356223	0.41700	.	.	ENSG00000140400	ENST00000421803	.	.	.	5.45	-0.162	0.13367	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.3978	0.2236	0.00171	0.2319:0.2853:0.1914:0.2914	.	.	.	.	S	210	.	.	X	-	2	2	MAN2C1	73442114	0.980000	0.34600	0.633000	0.29310	0.805000	0.45488	0.133000	0.15912	0.228000	0.21019	-0.367000	0.07326	TGA		PASS	0.622	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			10	60	10	60	---	---	---	---
DNAJA4	55466	broad.mit.edu	37	15	78563008	78563008	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:78563008G>C	ENST00000394852.3	+	2	492	c.302G>C	c.(301-303)aGa>aCa	p.R101T	DNAJA4_ENST00000394855.3_Missense_Mutation_p.R130T|DNAJA4_ENST00000343789.3_Missense_Mutation_p.R101T|DNAJA4_ENST00000446172.2_Missense_Mutation_p.R74T	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	101					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)	p.R74T(1)|p.R101T(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						CGGATGGCTAGAGAGAGAAGA	0.428																																						uc002bdj.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(301-303)AGA>ACA		DnaJ (Hsp40) homolog, subfamily A, member 4							117.0	115.0	116.0					15																	78563008		2196	4293	6489	SO:0001583	missense	55466				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr15:78563008G>C	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"""Heat shock proteins / DNAJ (HSP40)"""	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.302G>C	15.37:g.78563008G>C	ENSP00000378321:p.Arg101Thr					DNAJA4_uc002bdi.2_Missense_Mutation_p.R130T|DNAJA4_uc002bdk.2_Missense_Mutation_p.R74T|DNAJA4_uc002bdl.2_Missense_Mutation_p.R16T	p.R101T	NM_001130182	NP_001123654	Q8WW22	DNJA4_HUMAN			2	419	+			101					E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Missense_Mutation	SNP	ENST00000394852.3	37	c.302G>C	CCDS45316.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788213	0.70337	.	.	ENSG00000140403	ENST00000394855;ENST00000343789;ENST00000394852;ENST00000446172	T;T;T;T	0.67698	-0.06;-0.04;-0.04;-0.28	5.63	5.63	0.86233	Heat shock protein DnaJ, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72061	0.3414	M	0.80982	2.52	0.80722	D	1	B;P;P;P	0.41524	0.435;0.638;0.568;0.753	B;B;B;B	0.42245	0.097;0.212;0.175;0.381	T	0.71639	-0.4532	10	0.28530	T	0.3	-21.2544	18.2734	0.90076	0.0:0.0:1.0:0.0	.	16;74;101;130	Q9P1H1;E9PDM9;Q8WW22;Q8WW22-2	.;.;DNJA4_HUMAN;.	T	130;101;101;74	ENSP00000378324:R130T;ENSP00000339581:R101T;ENSP00000378321:R101T;ENSP00000413499:R74T	ENSP00000339581:R101T	R	+	2	0	DNAJA4	76350063	1.000000	0.71417	0.975000	0.42487	0.878000	0.50629	9.566000	0.98157	2.652000	0.90054	0.655000	0.94253	AGA		PASS	0.428	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	NM_018602		38	112	38	112	---	---	---	---
CHRNB4	1143	broad.mit.edu	37	15	78921717	78921717	+	Silent	SNP	G	G	A	rs202107554		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:78921717G>A	ENST00000261751.3	-	5	1041	c.930C>T	c.(928-930)atC>atT	p.I310I	CHRNB4_ENST00000560511.1_5'Flank|RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	310					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.I310I(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CGCTGGTGACGATGGAGAAGG	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21293	0.0		0.0	False		,,,				2504	0.0					uc002bed.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(928-930)ATC>ATT		cholinergic receptor, nicotinic, beta 4							138.0	111.0	120.0					15																	78921717		2196	4293	6489	SO:0001819	synonymous_variant	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78921717G>A	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.930C>T	15.37:g.78921717G>A						CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Silent_p.I128I	p.I310I	NM_000750	NP_000741	P30926	ACHB4_HUMAN			5	1042	-			310			Helical; (Potential).		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Silent	SNP	ENST00000261751.3	37	c.930C>T	CCDS10306.1																																																																																				PASS	0.597	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			14	76	14	76	---	---	---	---
KIAA1024	23251	broad.mit.edu	37	15	79749984	79749984	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:79749984A>C	ENST00000305428.3	+	2	1570	c.1495A>C	c.(1495-1497)Agt>Cgt	p.S499R		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	499						integral component of membrane (GO:0016021)		p.S499R(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGGCAAGTACAGTGACAGGCA	0.532																																						uc002bew.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(1495-1497)AGT>CGT		hypothetical protein LOC23251							101.0	82.0	89.0					15																	79749984		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79749984A>C	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1495A>C	15.37:g.79749984A>C	ENSP00000307461:p.Ser499Arg					KIAA1024_uc010unk.1_Missense_Mutation_p.S499R	p.S499R	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			2	1570	+			499					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.1495A>C	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	A	6.761	0.509332	0.12883	.	.	ENSG00000169330	ENST00000305428	T	0.32753	1.44	4.86	-4.86	0.03132	.	0.602886	0.17708	N	0.164687	T	0.20088	0.0483	L	0.36672	1.1	0.09310	N	1	B	0.16802	0.019	B	0.21360	0.034	T	0.15896	-1.0421	9	.	.	.	.	13.4997	0.61447	0.4242:0.0:0.5758:0.0	.	499	Q9UPX6	K1024_HUMAN	R	499	ENSP00000307461:S499R	.	S	+	1	0	KIAA1024	77537039	0.000000	0.05858	0.125000	0.21846	0.229000	0.25112	-0.527000	0.06200	-1.215000	0.02610	0.402000	0.26972	AGT		PASS	0.532	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		23	59	23	59	---	---	---	---
FAH	2184	broad.mit.edu	37	15	80465390	80465390	+	Silent	SNP	C	C	T	rs145851627		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:80465390C>T	ENST00000407106.1	+	10	896	c.741C>T	c.(739-741)ctC>ctT	p.L247L	FAH_ENST00000561421.1_Silent_p.L247L|FAH_ENST00000261755.5_Silent_p.L247L|FAH_ENST00000539156.1_Silent_p.L177L|FAH_ENST00000558627.1_3'UTR			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	247					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)	p.L247L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGTCCCTCTCGGGCCATTCC	0.572									Tyrosinemia, type 1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002bfj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(739-741)CTC>CTT		fumarylacetoacetase		C		0,4406		0,0,2203	168.0	147.0	154.0		741	-9.1	0.0	15	dbSNP_134	154	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FAH	NM_000137.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		247/420	80465390	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2184	Tyrosinemia_type_1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	g.chr15:80465390C>T	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.741C>T	15.37:g.80465390C>T			OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1198	FAH_uc002bfk.1_Silent_p.L247L|FAH_uc002bfm.1_Silent_p.L247L|FAH_uc002bfn.1_Silent_p.L177L	p.L247L	NM_000137	NP_000128	P16930	FAAA_HUMAN			10	823	+			247					B2R9X1|D3DW95|Q53XA7	Silent	SNP	ENST00000407106.1	37	c.741C>T	CCDS10314.1																																																																																				PASS	0.572	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2			44	192	44	192	---	---	---	---
ADAMTSL3	57188	broad.mit.edu	37	15	84651319	84651319	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:84651319A>T	ENST00000286744.5	+	21	3163	c.2939A>T	c.(2938-2940)tAc>tTc	p.Y980F	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.Y980F	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	980	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y980F(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATCGGCGTGTACCGGTGCATT	0.572																																						uc002bjz.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(2938-2940)TAC>TTC		ADAMTS-like 3 precursor							81.0	82.0	81.0					15																	84651319		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84651319A>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2939A>T	15.37:g.84651319A>T	ENSP00000286744:p.Tyr980Phe					ADAMTSL3_uc010bmt.1_Missense_Mutation_p.Y980F|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.Y980F	p.Y980F	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		21	3163	+			980			Ig-like C2-type 1.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.2939A>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321211	0.81580	.	.	ENSG00000156218	ENST00000286744	D	0.92752	-3.1	5.05	5.05	0.67936	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39210	N	0.001430	D	0.96213	0.8765	M	0.85710	2.77	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96900	0.9659	10	0.87932	D	0	.	14.8273	0.70122	1.0:0.0:0.0:0.0	.	980;980	P82987-2;P82987	.;ATL3_HUMAN	F	980	ENSP00000286744:Y980F	ENSP00000286744:Y980F	Y	+	2	0	ADAMTSL3	82442323	1.000000	0.71417	0.685000	0.30070	0.640000	0.38277	8.157000	0.89647	1.896000	0.54893	0.460000	0.39030	TAC		PASS	0.572	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		18	105	18	105	---	---	---	---
MRPL46	26589	broad.mit.edu	37	15	89010599	89010599	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr15:89010599G>C	ENST00000312475.4	-	1	51	c.10C>G	c.(10-12)Ccc>Gcc	p.P4A	MRPS11_ENST00000353598.6_5'Flank|MRPL46_ENST00000559538.1_5'Flank|MRPS11_ENST00000325844.4_5'Flank	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	4						mitochondrion (GO:0005739)|ribosome (GO:0005840)	hydrolase activity (GO:0016787)	p.P4A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CGCCTTACGGGCGCCGCCATC	0.672																																						uc002bmj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(10-12)CCC>GCC		mitochondrial ribosomal protein L46 precursor							10.0	12.0	11.0					15																	89010599		2168	4248	6416	SO:0001583	missense	26589					mitochondrion|ribosome	hydrolase activity	g.chr15:89010599G>C	AF210056	CCDS10341.1	15q25.3	2012-10-08	2001-12-10	2001-12-14	ENSG00000259494	ENSG00000259494		"""Mitochondrial ribosomal proteins / large subunits"""	1192	protein-coding gene	gene with protein product		611851	"""chromosome 15 open reading frame 4"""	C15orf4		11761714, 11551941	Standard	NM_022163		Approved	LIECG2, P2ECSL	uc002bmj.2	Q9H2W6	OTTHUMG00000148683	ENST00000312475.4:c.10C>G	15.37:g.89010599G>C	ENSP00000312311:p.Pro4Ala					MRPL46_uc002bmi.1_5'Flank|MRPL46_uc002bmk.2_Missense_Mutation_p.P4A|MRPS11_uc002bmm.2_5'Flank|MRPS11_uc002bml.2_5'Flank|MRPS11_uc002bmn.2_5'Flank|MRPS11_uc010bnj.2_5'Flank	p.P4A	NM_022163	NP_071446	Q9H2W6	RM46_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		1	35	-	Lung NSC(78;0.203)		4					B2RD75|Q9HBU8	Missense_Mutation	SNP	ENST00000312475.4	37	c.10C>G	CCDS10341.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558110	0.65538	.	.	ENSG00000173867	ENST00000312475	T	0.55930	0.49	4.41	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	N	0.08118	0	0.42222	D	0.991858	B	0.24768	0.111	B	0.26770	0.073	T	0.14172	-1.0482	10	0.39692	T	0.17	.	11.7463	0.51821	0.0875:0.0:0.9125:0.0	.	4	Q9H2W6	RM46_HUMAN	A	4	ENSP00000312311:P4A	ENSP00000312311:P4A	P	-	1	0	MRPL46	86811603	1.000000	0.71417	0.997000	0.53966	0.665000	0.39181	1.914000	0.39966	1.205000	0.43262	-0.123000	0.14984	CCC		PASS	0.672	MRPL46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309073.1	NM_022163		3	4	3	4	---	---	---	---
RHBDL1	9028	broad.mit.edu	37	16	726323	726323	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:726323C>T	ENST00000219551.2	+	1	249	c.222C>T	c.(220-222)ggC>ggT	p.G74G	LA16c-313D11.9_ENST00000567091.1_RNA|LA16c-313D11.9_ENST00000571933.1_RNA|RHBDL1_ENST00000352681.3_Intron			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	74					signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.G74G(1)		endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				TGGCTGGCGGCTCCTCACTGC	0.672																																						uc002cis.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(220-222)GGC>GGT		rhomboid protease 1							13.0	13.0	13.0					16																	726323		2173	4253	6426	SO:0001819	synonymous_variant	9028				proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	g.chr16:726323C>T	Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"""rhomboid (veinlet, Drosophila)-like"""	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141	ENST00000219551.2:c.222C>T	16.37:g.726323C>T						RHBDL1_uc002cir.1_Intron|RHBDL1_uc010uun.1_Intron	p.G74G	NM_003961	NP_003952	O75783	RHBL1_HUMAN			1	249	+		Hepatocellular(780;0.0218)	74					A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Silent	SNP	ENST00000219551.2	37	c.222C>T	CCDS10418.1																																																																																				PASS	0.672	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241619.1	NM_003961		6	6	6	6	---	---	---	---
SSTR5	6755	broad.mit.edu	37	16	1129885	1129885	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:1129885G>C	ENST00000293897.4	+	1	1105	c.1017G>C	c.(1015-1017)agG>agC	p.R339S	SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000397547.2_Missense_Mutation_p.R339S|SSTR5_ENST00000562758.1_Intron	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	339			R -> K (in dbSNP:rs35072648).		G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.R339S(1)		endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GTCCAGACAGGATCCGGCAGC	0.677																																						uc002ckq.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1015-1017)AGG>AGC		somatostatin receptor 5	Octreotide(DB00104)						27.0	26.0	26.0					16																	1129885		2180	4293	6473	SO:0001583	missense	6755				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129885G>C	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.1017G>C	16.37:g.1129885G>C	ENSP00000293897:p.Arg339Ser					LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	p.R339S	NM_001053	NP_001044	P35346	SSR5_HUMAN			1	1105	+		Hepatocellular(780;0.00369)	339			Cytoplasmic (Potential).		P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.1017G>C	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	G	5.307	0.241957	0.10077	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.71698	-0.59;-0.59	4.19	4.19	0.49359	.	0.652963	0.15539	U	0.257059	T	0.54095	0.1837	L	0.31926	0.97	0.25852	N	0.983925	B	0.11235	0.004	B	0.08055	0.003	T	0.33675	-0.9859	10	0.18710	T	0.47	.	6.318	0.21202	0.1042:0.2076:0.6883:0.0	.	339	P35346	SSR5_HUMAN	S	339	ENSP00000380680:R339S;ENSP00000293897:R339S	ENSP00000293897:R339S	R	+	3	2	SSTR5	1069886	0.996000	0.38824	0.132000	0.22025	0.012000	0.07955	0.792000	0.26929	1.895000	0.54865	0.561000	0.74099	AGG		PASS	0.677	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			3	20	3	20	---	---	---	---
BAIAP3	8938	broad.mit.edu	37	16	1388632	1388632	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:1388632G>A	ENST00000324385.5	+	2	345	c.187G>A	c.(187-189)Gac>Aac	p.D63N	BAIAP3_ENST00000397489.1_Missense_Mutation_p.D28N|BAIAP3_ENST00000397488.2_Missense_Mutation_p.D28N|BAIAP3_ENST00000426824.3_Missense_Mutation_p.D28N|BAIAP3_ENST00000568887.1_Missense_Mutation_p.D28N|BAIAP3_ENST00000562208.1_Missense_Mutation_p.D28N|BAIAP3_ENST00000421665.2_Missense_Mutation_p.D28N	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	63					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)	p.D63N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GACTGAGCAGGACCCAGGGAG	0.697																																						uc002clk.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(187-189)GAC>AAC		BAI1-associated protein 3																																				SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1388632G>A	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.187G>A	16.37:g.1388632G>A	ENSP00000324510:p.Asp63Asn					BAIAP3_uc002clj.2_Missense_Mutation_p.D28N|BAIAP3_uc010uuz.1_Missense_Mutation_p.D28N|BAIAP3_uc010uva.1_Missense_Mutation_p.D28N|BAIAP3_uc010uvb.1_Missense_Mutation_p.D63N|BAIAP3_uc010uvc.1_Missense_Mutation_p.D28N	p.D63N	NM_003933	NP_003924	O94812	BAIP3_HUMAN			2	187	+		Hepatocellular(780;0.0893)	63					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.187G>A	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778694	0.49891	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.70631	-0.49;-0.49;-0.5;-0.49;-0.48	4.59	3.64	0.41730	.	0.329392	0.28021	N	0.016917	T	0.53498	0.1800	N	0.22421	0.69	0.21064	N	0.999799	B;B;B;B;B	0.19817	0.023;0.0;0.039;0.023;0.039	B;B;B;B;B	0.15870	0.014;0.001;0.014;0.014;0.014	T	0.44483	-0.9325	10	0.39692	T	0.17	-13.7318	9.2022	0.37265	0.1037:0.0:0.8963:0.0	.	28;63;28;63;28	E7EUB9;B4DGA2;B4DIK3;O94812;A2A2B2	.;.;.;BAIP3_HUMAN;.	N	28;28;63;28;28	ENSP00000407242:D28N;ENSP00000380625:D28N;ENSP00000324510:D63N;ENSP00000380626:D28N;ENSP00000409533:D28N	ENSP00000324510:D63N	D	+	1	0	BAIAP3	1328633	0.044000	0.20184	0.028000	0.17463	0.300000	0.27592	0.531000	0.23052	1.064000	0.40671	-0.320000	0.08662	GAC		PASS	0.697	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			3	12	3	12	---	---	---	---
HS3ST6	64711	broad.mit.edu	37	16	1961753	1961753	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:1961753G>C	ENST00000293937.3	-	2	866	c.867C>G	c.(865-867)ctC>ctG	p.L289L	HS3ST6_ENST00000443547.1_Silent_p.L258L|HS3ST6_ENST00000454677.2_Silent_p.L306L			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	289					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.L258L(2)		endometrium(2)|lung(2)	4						GGGCCTTCTTGAGGCAGGGGA	0.701																																						uc002cnf.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(772-774)CTC>CTG		heparan sulfate (glucosamine)							36.0	44.0	41.0					16																	1961753		2197	4299	6496	SO:0001819	synonymous_variant	64711							g.chr16:1961753G>C			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"""Sulfotransferases, membrane-bound"""	14178	protein-coding gene	gene with protein product			"""heparan sulfate (glucosamine) 3-O-sulfotransferase 5"""	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.867C>G	16.37:g.1961753G>C							p.L258L	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN			2	774	-			258					Q96RX7	Silent	SNP	ENST00000293937.3	37	c.774C>G																																																																																					PASS	0.701	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606		14	35	14	35	---	---	---	---
MEFV	4210	broad.mit.edu	37	16	3304210	3304210	+	Silent	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:3304210C>A	ENST00000219596.1	-	2	897	c.858G>T	c.(856-858)ggG>ggT	p.G286G	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	286					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.G286G(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CCGCAGATGCCCCTCCATCCG	0.532																																						uc002cun.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(856-858)GGG>GGT		Mediterranean fever protein	Colchicine(DB01394)						76.0	85.0	82.0					16																	3304210		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3304210C>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.858G>T	16.37:g.3304210C>A							p.G286G	NM_000243	NP_000234	O15553	MEFV_HUMAN			2	898	-			286					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.858G>T	CCDS10498.1																																																																																				PASS	0.532	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		42	222	42	222	---	---	---	---
VASN	114990	broad.mit.edu	37	16	4431739	4431739	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:4431739C>A	ENST00000304735.3	+	2	1016	c.861C>A	c.(859-861)ttC>ttA	p.F287L	CORO7_ENST00000537233.2_Intron|CORO7_ENST00000539968.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000251166.4_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000423908.2_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	287					cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)	p.F287L(1)		breast(1)|lung(3)|prostate(1)|skin(1)	6						CGGGCCTCTTCCCCCGCCTGC	0.706																																						uc002cwj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(859-861)TTC>TTA		slit-like 2 precursor							14.0	18.0	16.0					16																	4431739		2135	4199	6334	SO:0001583	missense	114990					extracellular region|integral to membrane		g.chr16:4431739C>A	AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"""slit-like 2 (Drosophila)"""	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.861C>A	16.37:g.4431739C>A	ENSP00000306864:p.Phe287Leu					CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron	p.F287L	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN			2	1016	+			287			LRR 10.|Extracellular (Potential).		Q6UXL4|Q6UXL5|Q96CX1	Missense_Mutation	SNP	ENST00000304735.3	37	c.861C>A	CCDS10514.1	.	.	.	.	.	.	.	.	.	.	C	4.327	0.060108	0.08339	.	.	ENSG00000168140	ENST00000304735	T	0.75260	-0.92	5.42	-1.54	0.08584	.	0.176869	0.50627	D	0.000102	T	0.38427	0.1040	N	0.03983	-0.305	0.41200	D	0.986365	B	0.06786	0.001	B	0.08055	0.003	T	0.40365	-0.9567	10	0.02654	T	1	-25.8787	5.6199	0.17451	0.1194:0.5277:0.0:0.3529	.	287	Q6EMK4	VASN_HUMAN	L	287	ENSP00000306864:F287L	ENSP00000306864:F287L	F	+	3	2	VASN	4371740	0.004000	0.15560	0.990000	0.47175	0.546000	0.35178	-0.599000	0.05700	-0.223000	0.09943	-0.233000	0.12211	TTC		PASS	0.706	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440		5	35	5	35	---	---	---	---
ZNF500	26048	broad.mit.edu	37	16	4802659	4802659	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:4802659C>G	ENST00000219478.6	-	6	1460	c.1161G>C	c.(1159-1161)ggG>ggC	p.G387G	RP11-127I20.7_ENST00000588099.1_RNA|ZNF500_ENST00000545009.1_Silent_p.G387G|ZNF500_ENST00000591026.1_5'UTR			O60304	ZN500_HUMAN	zinc finger protein 500	387					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.G387G(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						TGAAGCGCTTCCCACACTCGG	0.637																																						uc002cxp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1159-1161)GGG>GGC		zinc finger protein 500							48.0	40.0	43.0					16																	4802659		2196	4300	6496	SO:0001819	synonymous_variant	26048				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:4802659C>G	AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.1161G>C	16.37:g.4802659C>G						ZNF500_uc002cxo.1_Silent_p.G179G|ZNF500_uc010uxt.1_Silent_p.G387G	p.G387G	NM_021646	NP_067678	O60304	ZN500_HUMAN			6	1408	-			387			C2H2-type 3.		A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Silent	SNP	ENST00000219478.6	37	c.1161G>C	CCDS32383.1																																																																																				PASS	0.637	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507		4	26	4	26	---	---	---	---
TXNDC11	51061	broad.mit.edu	37	16	11785193	11785193	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:11785193G>C	ENST00000356957.3	-	9	2041	c.1934C>G	c.(1933-1935)tCt>tGt	p.S645C	TXNDC11_ENST00000283033.5_Missense_Mutation_p.S618C|TXNDC11_ENST00000570917.1_5'Flank			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	645					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.S618C(1)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GATGTAATGAGATTCTTCTTT	0.423																																						uc010buu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1933-1935)TCT>TGT		thioredoxin domain containing 11							124.0	121.0	122.0					16																	11785193		2197	4300	6497	SO:0001583	missense	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11785193G>C	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1934C>G	16.37:g.11785193G>C	ENSP00000349439:p.Ser645Cys					TXNDC11_uc002dbg.1_Missense_Mutation_p.S618C	p.S645C	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN			9	1996	-			645					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37	c.1934C>G		.	.	.	.	.	.	.	.	.	.	G	19.09	3.760143	0.69763	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.25912	1.77;1.77	5.81	5.81	0.92471	.	0.325259	0.31495	N	0.007559	T	0.40067	0.1102	L	0.50333	1.59	0.36438	D	0.865343	D;D	0.67145	0.994;0.996	P;D	0.65573	0.848;0.936	T	0.46884	-0.9159	10	0.62326	D	0.03	-1.5691	8.5305	0.33331	0.1623:0.0:0.8377:0.0	.	645;618	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	C	645;618	ENSP00000349439:S645C;ENSP00000283033:S618C	ENSP00000283033:S618C	S	-	2	0	TXNDC11	11692694	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	4.222000	0.58580	2.746000	0.94184	0.655000	0.94253	TCT		PASS	0.423	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		4	234	4	234	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18840913	18840913	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:18840913G>A	ENST00000446231.2	-	54	9710	c.9298C>T	c.(9298-9300)Caa>Taa	p.Q3100*	SMG1_ENST00000389467.3_Nonsense_Mutation_p.Q3100*			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3100					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q3100*(1)|p.Q3096*(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCGAGGGCTTGGTTGGGTAGC	0.468																																						uc002dfm.2																			2	Substitution - Nonsense(2)		lung(2)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(9298-9300)CAA>TAA		PI-3-kinase-related kinase SMG-1							57.0	57.0	57.0					16																	18840913		1906	4134	6040	SO:0001587	stop_gained	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18840913G>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9298C>T	16.37:g.18840913G>A	ENSP00000402515:p.Gln3100*					SMG1_uc010bwb.2_Nonsense_Mutation_p.Q2960*|SMG1_uc010bwa.2_Nonsense_Mutation_p.Q1831*	p.Q3100*	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			54	9661	-			3100					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Nonsense_Mutation	SNP	ENST00000446231.2	37	c.9298C>T	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	52	19.785004	0.99923	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	.	.	.	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	.	.	.	X	3100	.	ENSP00000374118:Q3100X	Q	-	1	0	SMG1	18748414	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.582000	0.98214	2.890000	0.99128	0.585000	0.79938	CAA		PASS	0.468	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		29	61	29	61	---	---	---	---
GP2	2813	broad.mit.edu	37	16	20331610	20331610	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:20331610C>G	ENST00000381362.4	-	6	917	c.841G>C	c.(841-843)Gct>Cct	p.A281P	GP2_ENST00000573897.1_5'UTR|GP2_ENST00000341642.5_Missense_Mutation_p.A131P|GP2_ENST00000381360.5_Missense_Mutation_p.A134P|GP2_ENST00000302555.5_Missense_Mutation_p.A278P	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	281	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.A278P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGGCACTAGCCTGGACGGGG	0.547																																						uc002dgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(841-843)GCT>CCT		zymogen granule membrane glycoprotein 2 isoform							113.0	98.0	103.0					16																	20331610		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20331610C>G	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.841G>C	16.37:g.20331610C>G	ENSP00000370767:p.Ala281Pro					GP2_uc002dgw.2_Missense_Mutation_p.A278P|GP2_uc002dgx.2_Missense_Mutation_p.A134P|GP2_uc002dgy.2_Missense_Mutation_p.A131P	p.A281P	NM_001007240	NP_001007241	P55259	GP2_HUMAN			6	924	-			281			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.841G>C	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527695	0.85706	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.44	5.44	0.79542	Zona pellucida sperm-binding protein (3);	.	.	.	.	D	0.88731	0.6516	L	0.59436	1.845	0.23602	N	0.997318	P;D;D;D	0.71674	0.951;0.998;0.989;0.961	P;D;P;P	0.70227	0.786;0.968;0.885;0.864	T	0.80933	-0.1161	9	0.34782	T	0.22	-18.4885	14.7749	0.69724	0.0:1.0:0.0:0.0	.	131;259;278;281	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	P	278;281;134;131;259	ENSP00000304044:A278P;ENSP00000370767:A281P;ENSP00000370765:A134P;ENSP00000343861:A131P	ENSP00000304044:A278P	A	-	1	0	GP2	20239111	0.071000	0.21146	0.892000	0.35008	0.595000	0.36748	3.652000	0.54439	2.558000	0.86282	0.655000	0.94253	GCT		PASS	0.547	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		6	175	6	175	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20395985	20395985	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:20395985C>G	ENST00000302451.4	-	3	639	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	RP11-429K17.1_ENST00000577173.1_RNA	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	131					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.E131Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTGATGGGCTCTGACCTGTTG	0.488																																						uc002dhc.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(391-393)GAG>CAG		protein disulfide isomerase-like, testis							146.0	144.0	144.0					16																	20395985		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20395985C>G		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.391G>C	16.37:g.20395985C>G	ENSP00000305465:p.Glu131Gln						p.E131Q	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			3	614	-			131					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.391G>C	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	8.522	0.869043	0.17322	.	.	ENSG00000169340	ENST00000302451	T	0.03441	3.93	5.43	-0.247	0.13019	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.701778	0.14617	N	0.308669	T	0.02848	0.0085	L	0.40543	1.245	0.09310	N	1	B	0.17667	0.023	B	0.12837	0.008	T	0.45818	-0.9235	10	0.18710	T	0.47	.	4.9546	0.14033	0.1411:0.3654:0.4122:0.0814	.	131	Q8N807	PDILT_HUMAN	Q	131	ENSP00000305465:E131Q	ENSP00000305465:E131Q	E	-	1	0	PDILT	20303486	0.000000	0.05858	0.305000	0.25099	0.788000	0.44548	-0.308000	0.08156	0.379000	0.24794	0.655000	0.94253	GAG		PASS	0.488	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		43	272	43	272	---	---	---	---
VWA3A	146177	broad.mit.edu	37	16	22134981	22134981	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:22134981G>C	ENST00000389398.5	+	16	1581	c.1485G>C	c.(1483-1485)tgG>tgC	p.W495C	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	495						extracellular region (GO:0005576)		p.W495C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GGATTGAGTGGCTCTCCCTGG	0.537																																						uc010vbq.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1483-1485)TGG>TGC		von Willebrand factor A domain containing 3A							117.0	120.0	119.0					16																	22134981		1990	4168	6158	SO:0001583	missense	146177					extracellular region		g.chr16:22134981G>C	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1485G>C	16.37:g.22134981G>C	ENSP00000374049:p.Trp495Cys					VWA3A_uc010bxd.2_RNA|VWA3A_uc010bxc.2_Missense_Mutation_p.W503C	p.W495C	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	16	1581	+			495					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.1485G>C	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537610	0.65085	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.20200	2.09	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.53802	0.1819	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58154	-0.7686	10	0.87932	D	0	.	18.7012	0.91620	0.0:0.0:1.0:0.0	.	495;119	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	C	495;118	ENSP00000374049:W495C	ENSP00000299840:W118C	W	+	3	0	VWA3A	22042482	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	6.690000	0.74567	2.763000	0.94921	0.563000	0.77884	TGG		PASS	0.537	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			7	159	7	159	---	---	---	---
CHP2	63928	broad.mit.edu	37	16	23766387	23766387	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:23766387C>A	ENST00000300113.2	+	1	440	c.17C>A	c.(16-18)tCc>tAc	p.S6Y		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	6					cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S6Y(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		TCGCGCAGCTCCCACGCCGCG	0.751																																						uc002dmb.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(16-18)TCC>TAC		hepatocellular carcinoma antigen gene 520							11.0	13.0	12.0					16																	23766387		2155	4234	6389	SO:0001583	missense	63928						calcium ion binding	g.chr16:23766387C>A		CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"""EF-hand domain containing"""	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.17C>A	16.37:g.23766387C>A	ENSP00000300113:p.Ser6Tyr						p.S6Y	NM_022097	NP_071380	O43745	CHP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0144)	1	440	+			6					A8K2I8	Missense_Mutation	SNP	ENST00000300113.2	37	c.17C>A	CCDS10617.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770617	0.90108	.	.	ENSG00000166869	ENST00000300113	T	0.73897	-0.79	4.23	4.23	0.50019	EF-hand-like domain (1);	0.000000	0.64402	D	0.000010	D	0.86590	0.5969	M	0.86502	2.82	0.50171	D	0.999853	D	0.89917	1.0	D	0.77557	0.99	D	0.88813	0.3293	10	0.87932	D	0	-3.4603	12.4831	0.55856	0.0:1.0:0.0:0.0	.	6	O43745	CHP2_HUMAN	Y	6	ENSP00000300113:S6Y	ENSP00000300113:S6Y	S	+	2	0	AC130454.2	23673888	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	3.213000	0.51153	2.037000	0.60232	0.591000	0.81541	TCC		PASS	0.751	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	NM_022097		5	31	5	31	---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	24105581	24105581	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:24105581G>C	ENST00000321728.7	+	7	959	c.784G>C	c.(784-786)Ggg>Cgg	p.G262R	PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000303531.7_Missense_Mutation_p.G262R	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	262					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.G262R(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TTTGTCCTTTGGGATTTCTGA	0.448																																						uc002dmd.2																			2	Substitution - Missense(2)	p.G262V(1)	lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(784-786)GGG>CGG		protein kinase C, beta isoform 1	Vitamin E(DB00163)						158.0	143.0	148.0					16																	24105581		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24105581G>C	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.784G>C	16.37:g.24105581G>C	ENSP00000318315:p.Gly262Arg					PRKCB_uc002dme.2_Missense_Mutation_p.G262R	p.G262R	NM_212535	NP_997700	P05771	KPCB_HUMAN			7	981	+			262					C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.784G>C	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.777039	0.90195	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.42513	0.97;0.97	5.52	5.52	0.82312	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	M	0.87381	2.88	0.80722	D	1	D;D	0.57257	0.979;0.963	D;D	0.68765	0.96;0.948	T	0.74589	-0.3615	10	0.62326	D	0.03	.	18.4466	0.90686	0.0:0.0:1.0:0.0	.	262;262	P05771-2;P05771	.;KPCB_HUMAN	R	262	ENSP00000318315:G262R;ENSP00000305355:G262R	ENSP00000305355:G262R	G	+	1	0	PRKCB	24013082	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.468000	0.97676	2.581000	0.87130	0.655000	0.94253	GGG		PASS	0.448	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		25	266	25	266	---	---	---	---
KDM8	79831	broad.mit.edu	37	16	27221549	27221549	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:27221549G>T	ENST00000286096.4	+	2	278	c.105G>T	c.(103-105)ttG>ttT	p.L35F	KDM8_ENST00000568965.1_Missense_Mutation_p.L35F|KDM8_ENST00000441782.2_Missense_Mutation_p.L73F|KDM8_ENST00000380948.2_Missense_Mutation_p.L35F	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	35					G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)	p.L35F(1)|p.L73F(1)									ACCTGAAGTTGGACCTCGGGG	0.617																																						uc002doh.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(103-105)TTG>TTT		jumonji domain containing 5 isoform 2							65.0	47.0	53.0					16																	27221549		2195	4292	6487	SO:0001583	missense	79831				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:27221549G>T	AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"""Chromatin-modifying enzymes / K-demethylases"""	25840	protein-coding gene	gene with protein product		611917	"""jumonji domain containing 5"""	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.105G>T	16.37:g.27221549G>T	ENSP00000286096:p.Leu35Phe					JMJD5_uc010bxv.2_Missense_Mutation_p.L35F|JMJD5_uc010vcn.1_Missense_Mutation_p.L73F|JMJD5_uc010bxw.2_Missense_Mutation_p.L35F	p.L35F	NM_024773	NP_079049	Q8N371	KDM8_HUMAN			2	287	+			35					B4DLU9|Q6VAK5|Q9H8B1	Missense_Mutation	SNP	ENST00000286096.4	37	c.105G>T	CCDS10627.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.011683	0.54468	.	.	ENSG00000155666	ENST00000380948;ENST00000286096;ENST00000441782	T;T	0.35789	1.38;1.29	5.33	4.37	0.52481	.	0.349701	0.26948	N	0.021697	T	0.57213	0.2038	M	0.79475	2.455	0.42761	D	0.993805	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79784	0.993;0.993;0.946	T	0.60551	-0.7241	10	0.62326	D	0.03	-25.9869	9.6674	0.39992	0.1617:0.0:0.8383:0.0	.	73;35;35	Q8N371-3;Q8N371-2;Q8N371	.;.;KDM8_HUMAN	F	35;35;73	ENSP00000286096:L35F;ENSP00000398410:L73F	ENSP00000286096:L35F	L	+	3	2	JMJD5	27129050	1.000000	0.71417	0.485000	0.27403	0.573000	0.36030	1.678000	0.37586	2.483000	0.83821	0.561000	0.74099	TTG		PASS	0.617	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254580.3	NM_024773		34	77	34	77	---	---	---	---
MAZ	4150	broad.mit.edu	37	16	29819011	29819011	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:29819011C>T	ENST00000322945.6	+	2	1070	c.905C>T	c.(904-906)tCg>tTg	p.S302L	MAZ_ENST00000562337.1_Intron|MAZ_ENST00000568282.1_5'Flank|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000563402.1_Intron|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000545521.1_Missense_Mutation_p.S279L|MAZ_ENST00000568544.1_5'Flank|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000569978.1_5'Flank|MAZ_ENST00000219782.6_Missense_Mutation_p.S302L|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000566906.2_Intron	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	302					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S302L(2)		endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CTGTCGCACTCGGACGAGAAG	0.632																																					Colon(72;875 1167 15364 30899 37091)	uc002dty.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(904-906)TCG>TTG		MYC-associated zinc finger protein isoform 1							63.0	68.0	66.0					16																	29819011		2151	4258	6409	SO:0001583	missense	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29819011C>T	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.905C>T	16.37:g.29819011C>T	ENSP00000313362:p.Ser302Leu					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Missense_Mutation_p.S279L|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_Missense_Mutation_p.S302L|MAZ_uc010bzg.2_Intron|MAZ_uc002dtz.1_Missense_Mutation_p.S20L|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank	p.S302L	NM_002383	NP_002374	P56270	MAZ_HUMAN			2	1073	+			302					A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	ENST00000322945.6	37	c.905C>T	CCDS42143.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846964	0.51164	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000219782;ENST00000544343	T;T;T	0.18960	2.18;2.18;2.18	3.12	3.12	0.35913	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.40222	0.1108	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.98;0.985;0.998;0.975	T	0.33727	-0.9857	10	0.87932	D	0	-3.7571	12.075	0.53638	0.0:1.0:0.0:0.0	.	279;67;302;302	C6G496;Q59GP8;P56270;G5E927	.;.;MAZ_HUMAN;.	L	279;302;302;78	ENSP00000443956:S279L;ENSP00000313362:S302L;ENSP00000219782:S302L	ENSP00000219782:S302L	S	+	2	0	MAZ	29726512	1.000000	0.71417	0.998000	0.56505	0.012000	0.07955	4.614000	0.61183	1.464000	0.47987	0.442000	0.29010	TCG		PASS	0.632	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		26	139	26	139	---	---	---	---
ZNF768	79724	broad.mit.edu	37	16	30536455	30536455	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:30536455G>T	ENST00000380412.5	-	2	1181	c.1006C>A	c.(1006-1008)Cag>Aag	p.Q336K	ZNF768_ENST00000562803.1_Missense_Mutation_p.Q305K	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	336					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Q336K(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGAGTGCGCTGGTGGCGAAGC	0.627																																						uc002dyk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1006-1008)CAG>AAG		zinc finger protein 768							58.0	60.0	59.0					16																	30536455		2197	4300	6497	SO:0001583	missense	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30536455G>T	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1006C>A	16.37:g.30536455G>T	ENSP00000369777:p.Gln336Lys					ZNF768_uc010vex.1_Missense_Mutation_p.Q305K|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.Q305K	p.Q336K	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN			2	1182	-			336			C2H2-type 3.		Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	c.1006C>A	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160515	0.57368	.	.	ENSG00000169957	ENST00000380412	T	0.16196	2.36	4.57	4.57	0.56435	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42548	D	0.000683	T	0.11580	0.0282	N	0.10760	0.04	0.37067	D	0.898364	P	0.45126	0.851	P	0.44811	0.461	T	0.15607	-1.0431	10	0.56958	D	0.05	-12.5495	12.1935	0.54284	0.0:0.1729:0.8271:0.0	.	336	Q9H5H4	ZN768_HUMAN	K	336	ENSP00000369777:Q336K	ENSP00000369777:Q336K	Q	-	1	0	ZNF768	30443956	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.282000	0.65615	2.383000	0.81215	0.205000	0.17691	CAG		PASS	0.627	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		13	48	13	48	---	---	---	---
ORAI3	93129	broad.mit.edu	37	16	30964632	30964632	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:30964632C>A	ENST00000318663.4	+	2	579	c.355C>A	c.(355-357)Ctg>Atg	p.L119M	ORAI3_ENST00000562699.1_Intron|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000566237.1_Missense_Mutation_p.L119M	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	119					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)		p.L119M(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CTCCACGTGTCTGCTGCCCCA	0.612											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002eac.2																			1	Substitution - Missense(1)		lung(1)		0						c.(355-357)CTG>ATG		ORAI calcium release-activated calcium modulator							108.0	96.0	100.0					16																	30964632		2197	4300	6497	SO:0001583	missense	93129					integral to membrane	protein binding	g.chr16:30964632C>A	BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"""ORAI calcium release-activated calcium modulators"""	28185	protein-coding gene	gene with protein product		610930	"""transmembrane protein 142C"""	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.355C>A	16.37:g.30964632C>A	ENSP00000322249:p.Leu119Met		OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821		p.L119M	NM_152288	NP_689501	Q9BRQ5	ORAI3_HUMAN			2	561	+			119					Q96BI8	Missense_Mutation	SNP	ENST00000318663.4	37	c.355C>A	CCDS10697.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457447	0.63401	.	.	ENSG00000175938	ENST00000318663;ENST00000420438	T	0.47528	0.84	5.47	3.46	0.39613	.	0.000000	0.43110	D	0.000608	T	0.44912	0.1316	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	D	0.66497	0.944	T	0.41270	-0.9518	10	0.48119	T	0.1	-8.9437	4.2647	0.10757	0.2799:0.5354:0.0:0.1847	.	119	Q9BRQ5	ORAI3_HUMAN	M	119	ENSP00000322249:L119M	ENSP00000322249:L119M	L	+	1	2	ORAI3	30872133	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.477000	0.60223	0.624000	0.30286	0.650000	0.86243	CTG		PASS	0.612	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20	NM_152288		7	178	7	178	---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31374072	31374072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:31374072C>T	ENST00000268296.4	+	12	1478	c.1357C>T	c.(1357-1359)Cag>Tag	p.Q453*	ITGAX_ENST00000562522.1_Nonsense_Mutation_p.Q453*	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	453					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.Q453*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CACGGGGACTCAGGTTGGGCG	0.662																																						uc002ebu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1357-1359)CAG>TAG		integrin alpha X precursor							37.0	36.0	36.0					16																	31374072		2197	4300	6497	SO:0001587	stop_gained	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31374072C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1357C>T	16.37:g.31374072C>T	ENSP00000268296:p.Gln453*					ITGAX_uc002ebt.2_Nonsense_Mutation_p.Q453*|ITGAX_uc010vfk.1_Nonsense_Mutation_p.Q103*	p.Q453*	NM_000887	NP_000878	P20702	ITAX_HUMAN			12	1424	+			453			FG-GAP 5.|Extracellular (Potential).		Q8IVA6	Nonsense_Mutation	SNP	ENST00000268296.4	37	c.1357C>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.021708	0.75275	.	.	ENSG00000140678	ENST00000268296	.	.	.	3.42	1.33	0.21861	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	1.8344	0.03137	0.2126:0.4579:0.2071:0.1224	.	.	.	.	X	453	.	ENSP00000268296:Q453X	Q	+	1	0	ITGAX	31281573	0.936000	0.31750	0.900000	0.35374	0.026000	0.11368	0.973000	0.29422	0.546000	0.28920	0.291000	0.19559	CAG		PASS	0.662	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		6	54	6	54	---	---	---	---
TGFB1I1	7041	broad.mit.edu	37	16	31487877	31487877	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:31487877G>C	ENST00000394863.3	+	9	1094	c.964G>C	c.(964-966)Gat>Cat	p.D322H	TGFB1I1_ENST00000567607.1_Missense_Mutation_p.D305H|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.D305H|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.D305H	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	322	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.D305H(1)|p.D322H(1)		lung(8)|upper_aerodigestive_tract(1)	9						GCCCTTCGGAGATGAGGGTGA	0.632																																						uc002ecd.1																			2	Substitution - Missense(2)		lung(2)		0						c.(964-966)GAT>CAT		transforming growth factor beta 1 induced							52.0	51.0	51.0					16																	31487877		2197	4298	6495	SO:0001583	missense	7041				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	g.chr16:31487877G>C	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.964G>C	16.37:g.31487877G>C	ENSP00000378332:p.Asp322His					TGFB1I1_uc002ece.1_Missense_Mutation_p.D305H|TGFB1I1_uc010caq.1_Missense_Mutation_p.D161H	p.D322H	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN			9	990	+			322			LIM zinc-binding 2.		B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	ENST00000394863.3	37	c.964G>C	CCDS42156.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748516	0.69533	.	.	ENSG00000140682	ENST00000394863;ENST00000361773;ENST00000394858	D;D;D	0.87809	-2.3;-2.3;-2.3	5.19	5.19	0.71726	Zinc finger, LIM-type (4);	0.341753	0.33457	N	0.004893	D	0.88980	0.6585	L	0.59436	1.845	0.43403	D	0.995536	B	0.33073	0.396	B	0.43990	0.438	D	0.88655	0.3185	10	0.54805	T	0.06	.	16.5617	0.84568	0.0:0.0:1.0:0.0	.	322	O43294	TGFI1_HUMAN	H	322;305;305	ENSP00000378332:D322H;ENSP00000355117:D305H;ENSP00000378327:D305H	ENSP00000355117:D305H	D	+	1	0	TGFB1I1	31395378	0.854000	0.29725	1.000000	0.80357	0.965000	0.64279	1.031000	0.30165	2.580000	0.87095	0.591000	0.81541	GAT		PASS	0.632	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255630.3			5	18	5	18	---	---	---	---
VPS35	55737	broad.mit.edu	37	16	46697018	46697018	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:46697018G>A	ENST00000299138.7	-	14	1762	c.1704C>T	c.(1702-1704)atC>atT	p.I568I	RP11-93O14.2_ENST00000569353.1_RNA	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	568					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)		p.I568I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCAAAGCACTGATAGTCTGGT	0.363																																						uc002eef.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1702-1704)ATC>ATT		vacuolar protein sorting 35							56.0	54.0	55.0					16																	46697018		2203	4300	6503	SO:0001819	synonymous_variant	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46697018G>A	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.1704C>T	16.37:g.46697018G>A						VPS35_uc002eed.2_Silent_p.I389I|VPS35_uc002eee.2_Silent_p.I529I	p.I568I	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN			14	1803	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	568					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Silent	SNP	ENST00000299138.7	37	c.1704C>T	CCDS10721.1																																																																																				PASS	0.363	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			57	57	57	57	---	---	---	---
SIAH1	6477	broad.mit.edu	37	16	48395889	48395889	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:48395889G>C	ENST00000380006.2	-	1	1904	c.451C>G	c.(451-453)Cag>Gag	p.Q151E	SIAH1_ENST00000573005.1_5'Flank|SIAH1_ENST00000394725.2_Missense_Mutation_p.Q151E|SIAH1_ENST00000356721.3_Missense_Mutation_p.Q182E			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	151	SBD.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q151E(1)|p.Q182E(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				GACTTATGCTGATGCATCAGA	0.478																																						uc002efo.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(451-453)CAG>GAG		seven in absentia homolog 1 isoform a							89.0	76.0	80.0					16																	48395889		2200	4300	6500	SO:0001583	missense	6477				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:48395889G>C	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"""seven in absentia homolog 1 (Drosophila)"""			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.451C>G	16.37:g.48395889G>C	ENSP00000369343:p.Gln151Glu					uc002efk.1_RNA|SIAH1_uc002efl.2_RNA|SIAH1_uc002efn.1_Missense_Mutation_p.Q182E	p.Q151E	NM_003031	NP_003022	Q8IUQ4	SIAH1_HUMAN			2	568	-		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)	151	Q->A: In E; does not impair its ability to interact with CACYBP and degrade CTNNB1; when associated with A-142.		SIAH-type.|SBD.		A0FKF3|O43269|Q49A58|Q92880	Missense_Mutation	SNP	ENST00000380006.2	37	c.451C>G	CCDS10735.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569174	0.28003	.	.	ENSG00000196470	ENST00000356721;ENST00000394725;ENST00000380006	T;T	0.23147	1.92;1.92	5.2	5.2	0.72013	Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);Zinc finger, SIAH-type (1);	0.000000	0.64402	U	0.000001	T	0.11537	0.0281	N	0.03050	-0.425	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.14254	-1.0479	10	0.05525	T	0.97	-11.2294	19.0874	0.93209	0.0:0.0:1.0:0.0	.	151;182	Q8IUQ4;Q8IUQ4-2	SIAH1_HUMAN;.	E	182;151;167	ENSP00000349156:Q182E;ENSP00000378214:Q151E	ENSP00000349156:Q182E	Q	-	1	0	SIAH1	46953390	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.629000	0.67798	2.590000	0.87494	0.655000	0.94253	CAG		PASS	0.478	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			6	109	6	109	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49557553	49557553	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:49557553G>T	ENST00000561648.1	-	7	3860	c.3807C>A	c.(3805-3807)ttC>ttA	p.F1269L	ZNF423_ENST00000563137.2_Missense_Mutation_p.F1209L|ZNF423_ENST00000535559.1_Missense_Mutation_p.F1152L|ZNF423_ENST00000562871.1_Missense_Mutation_p.F1209L|ZNF423_ENST00000567169.1_Missense_Mutation_p.F1152L|ZNF423_ENST00000262383.2_Missense_Mutation_p.F1269L|ZNF423_ENST00000562520.1_Missense_Mutation_p.F1209L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1269					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F1269L(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CGGTCTGGAAGAAGAACTTCT	0.602																																						uc002efs.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(3805-3807)TTC>TTA		zinc finger protein 423							165.0	115.0	132.0					16																	49557553		2199	4300	6499	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49557553G>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3807C>A	16.37:g.49557553G>T	ENSP00000455426:p.Phe1269Leu					ZNF423_uc010vgn.1_Missense_Mutation_p.F1152L	p.F1269L	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			8	4105	-		all_cancers(37;0.0155)	1269			C2H2-type 30.		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.3807C>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	35	5.456349	0.96223	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.26810	1.71;1.71	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.38268	0.1034	N	0.24115	0.695	0.54753	D	0.999984	D	0.61080	0.989	D	0.72338	0.977	T	0.09818	-1.0657	9	.	.	.	-23.9663	19.1919	0.93671	0.0:0.0:1.0:0.0	.	1269	Q2M1K9	ZN423_HUMAN	L	1269;1152	ENSP00000262383:F1269L;ENSP00000442321:F1152L	.	F	-	3	2	ZNF423	48115054	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.633000	0.83260	2.532000	0.85374	0.561000	0.74099	TTC		PASS	0.602	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		5	63	5	63	---	---	---	---
ADCY7	113	broad.mit.edu	37	16	50342626	50342626	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:50342626G>A	ENST00000394697.2	+	17	2324	c.1984G>A	c.(1984-1986)Gag>Aag	p.E662K	ADCY7_ENST00000566433.2_Missense_Mutation_p.E662K|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000254235.3_Missense_Mutation_p.E662K|ADCY7_ENST00000538642.1_Missense_Mutation_p.E662K			P51828	ADCY7_HUMAN	adenylate cyclase 7	662					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|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)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.E662K(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TGAGAGGGTGGAGACACAGCC	0.647																																						uc002egd.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1984-1986)GAG>AAG		adenylate cyclase 7	Bromocriptine(DB01200)						63.0	59.0	60.0					16																	50342626		2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50342626G>A	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1984G>A	16.37:g.50342626G>A	ENSP00000378187:p.Glu662Lys					ADCY7_uc002egc.1_Missense_Mutation_p.E662K	p.E662K	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	16	2252	+		all_cancers(37;0.0127)	662					A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.1984G>A	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617898	0.66787	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;T;T	0.81247	1.0;-1.47;-1.47	5.14	5.14	0.70334	.	0.000000	0.44688	U	0.000434	T	0.77916	0.4202	M	0.69823	2.125	0.80722	D	1	B;B	0.33345	0.161;0.409	B;B	0.35813	0.045;0.211	T	0.73962	-0.3817	10	0.06494	T	0.89	.	15.322	0.74129	0.0:0.0:1.0:0.0	.	662;662	P51828;F5H4D1	ADCY7_HUMAN;.	K	662	ENSP00000445046:E662K;ENSP00000378187:E662K;ENSP00000254235:E662K	ENSP00000254235:E662K	E	+	1	0	ADCY7	48900127	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	4.623000	0.61247	2.398000	0.81561	0.462000	0.41574	GAG		PASS	0.647	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			4	99	4	99	---	---	---	---
GPR56	9289	broad.mit.edu	37	16	57685308	57685308	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:57685308C>G	ENST00000388812.4	+	3	701	c.261C>G	c.(259-261)ctC>ctG	p.L87L	GPR56_ENST00000568908.1_Silent_p.L87L|GPR56_ENST00000538815.1_Silent_p.L87L|GPR56_ENST00000388813.5_Silent_p.L87L|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000567835.1_Silent_p.L87L|GPR56_ENST00000562558.1_Silent_p.L87L|GPR56_ENST00000568909.1_Silent_p.L87L|GPR56_ENST00000540164.2_Silent_p.L87L|GPR56_ENST00000456916.1_Silent_p.L87L|GPR56_ENST00000562631.1_Silent_p.L87L|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000379696.3_Silent_p.L87L|GPR56_ENST00000544297.1_5'UTR			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	87					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)	p.L87L(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CCAGGGGCCTCTACCACTTCT	0.572																																						uc002emb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(259-261)CTC>CTG		G protein-coupled receptor 56 isoform a							143.0	140.0	141.0					16																	57685308		2198	4300	6498	SO:0001819	synonymous_variant	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57685308C>G	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.261C>G	16.37:g.57685308C>G						GPR56_uc002elz.1_Intron|GPR56_uc002ema.1_5'UTR|GPR56_uc002emc.2_Silent_p.L87L|GPR56_uc002emf.2_Silent_p.L87L|GPR56_uc010vhs.1_Silent_p.L87L|GPR56_uc002emd.2_Silent_p.L87L|GPR56_uc002eme.2_Silent_p.L87L|GPR56_uc010vht.1_Silent_p.L92L|GPR56_uc002emg.3_Silent_p.L87L|GPR56_uc010vhu.1_5'UTR	p.L87L	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN			4	553	+			87			Extracellular (Potential).		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	ENST00000388812.4	37	c.261C>G	CCDS32460.1																																																																																				PASS	0.572	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			5	181	5	181	---	---	---	---
CNGB1	1258	broad.mit.edu	37	16	57998082	57998082	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:57998082G>T	ENST00000251102.8	-	4	302	c.242C>A	c.(241-243)tCc>tAc	p.S81Y	CNGB1_ENST00000564448.1_Missense_Mutation_p.S81Y|CNGB1_ENST00000311183.4_Missense_Mutation_p.S81Y	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	81					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.S81Y(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGATATGGTGGAAGTAAGGGC	0.562																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|pancreas(1)	4						c.(241-243)TCC>TAC		cyclic nucleotide gated channel beta 1 isoform							72.0	80.0	77.0					16																	57998082		1917	4121	6038	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57998082G>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.242C>A	16.37:g.57998082G>T	ENSP00000251102:p.Ser81Tyr					CNGB1_uc010cdh.2_Missense_Mutation_p.S81Y|CNGB1_uc002emu.2_Missense_Mutation_p.S81Y	p.S81Y	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			4	307	-			81					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.242C>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	G	9.901	1.206970	0.22205	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.97114	-4.25;0.79	3.71	-4.57	0.03421	.	0.772655	0.10624	N	0.652976	D	0.92358	0.7575	L	0.34521	1.04	0.09310	N	1	D;P	0.55605	0.972;0.697	P;B	0.45449	0.481;0.201	D	0.86659	0.1903	10	0.49607	T	0.09	.	3.6988	0.08375	0.4666:0.0:0.228:0.3054	.	81;81	Q14028-3;Q14028	.;CNGB1_HUMAN	Y	81	ENSP00000251102:S81Y;ENSP00000311670:S81Y	ENSP00000251102:S81Y	S	-	2	0	CNGB1	56555583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.475000	0.00987	-0.958000	0.03622	-0.136000	0.14681	TCC		PASS	0.562	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		11	74	11	74	---	---	---	---
CCDC113	29070	broad.mit.edu	37	16	58287906	58287906	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:58287906G>A	ENST00000219299.4	+	3	312	c.233G>A	c.(232-234)cGa>cAa	p.R78Q	CCDC113_ENST00000443128.2_Intron	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	78						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.R78Q(1)		large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						TTGCAGTTTCGAGGCAGGCGT	0.498																																						uc002ene.2																			1	Substitution - Missense(1)		lung(1)		0						c.(232-234)CGA>CAA		coiled-coil domain containing 113 isoform 1							98.0	89.0	92.0					16																	58287906		2198	4300	6498	SO:0001583	missense	29070					protein complex		g.chr16:58287906G>A	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.233G>A	16.37:g.58287906G>A	ENSP00000219299:p.Arg78Gln					CCDC113_uc010vid.1_Intron	p.R78Q	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN			3	312	+			78					B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	c.233G>A	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524352	0.44969	.	.	ENSG00000103021	ENST00000219299	T	0.35048	1.33	5.55	4.6	0.57074	.	0.337134	0.29417	N	0.012208	T	0.54398	0.1856	M	0.71581	2.175	0.09310	N	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.46816	-0.9164	10	0.27785	T	0.31	-7.7044	10.3236	0.43780	0.0905:0.0:0.9095:0.0	.	78	Q9H0I3	CC113_HUMAN	Q	78	ENSP00000219299:R78Q	ENSP00000219299:R78Q	R	+	2	0	CCDC113	56845407	0.915000	0.31059	0.016000	0.15963	0.009000	0.06853	4.461000	0.60115	1.341000	0.45600	0.655000	0.94253	CGA		PASS	0.498	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		10	125	10	125	---	---	---	---
LRRC29	26231	broad.mit.edu	37	16	67241837	67241837	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:67241837C>T	ENST00000409037.1	-	3	1338	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	LRRC29_ENST00000341546.3_Missense_Mutation_p.A148T|LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000409509.1_Missense_Mutation_p.A148T|LRRC29_ENST00000393992.1_Missense_Mutation_p.A148T			Q8WV35	LRC29_HUMAN	leucine rich repeat containing 29	148	F-box.							p.A148T(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CAGGAGCTGGCTGCCTGGGCC	0.617																																						uc002esd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(442-444)GCC>ACC		F-box and leucine-rich repeat protein 9							38.0	39.0	39.0					16																	67241837		2198	4300	6498	SO:0001583	missense	26231							g.chr16:67241837C>T	AF176701	CCDS32465.1	16q22.1	2008-02-05	2004-08-23	2004-08-26	ENSG00000125122	ENSG00000125122			13605	protein-coding gene	gene with protein product			"""F-box and leucine-rich repeat protein 9"""	FBXL9		10531037	Standard	NM_012163		Approved	FBL9	uc002esf.3	Q8WV35	OTTHUMG00000154403	ENST00000409037.1:c.442G>A	16.37:g.67241837C>T	ENSP00000387318:p.Ala148Thr					LRRC29_uc002ese.2_Missense_Mutation_p.A148T|LRRC29_uc002esf.2_Missense_Mutation_p.A148T|LRRC29_uc002esg.2_Missense_Mutation_p.A148T	p.A148T	NM_012163	NP_036295	Q8WV35	LRC29_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	3	1339	-		Ovarian(137;0.0563)	148			F-box.|LRR 5.		B2RE92|Q9UKA0	Missense_Mutation	SNP	ENST00000409037.1	37	c.442G>A	CCDS32465.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301587	0.81136	.	.	ENSG00000125122	ENST00000409509;ENST00000393992;ENST00000409037;ENST00000341546;ENST00000433915;ENST00000424285	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;4.23	5.57	5.57	0.84162	.	0.549164	0.18399	N	0.142417	T	0.44850	0.1313	L	0.48642	1.525	0.29422	N	0.860461	D	0.76494	0.999	D	0.72982	0.979	T	0.36286	-0.9754	10	0.72032	D	0.01	.	15.0432	0.71807	0.0:1.0:0.0:0.0	.	148	Q8WV35	LRC29_HUMAN	T	148;148;148;148;100;148	ENSP00000386622:A148T;ENSP00000377561:A148T;ENSP00000387318:A148T;ENSP00000344364:A148T;ENSP00000413129:A100T;ENSP00000409459:A148T	ENSP00000344364:A148T	A	-	1	0	LRRC29	65799338	0.993000	0.37304	0.974000	0.42286	0.985000	0.73830	3.521000	0.53472	2.617000	0.88574	0.655000	0.94253	GCC		PASS	0.617	LRRC29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335073.1	NM_012163		16	75	16	75	---	---	---	---
FAM65A	79567	broad.mit.edu	37	16	67578699	67578699	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:67578699G>T	ENST00000379312.3	+	16	2968	c.2847G>T	c.(2845-2847)agG>agT	p.R949S	FAM65A_ENST00000422602.2_Missense_Mutation_p.R965S|FAM65A_ENST00000042381.4_Missense_Mutation_p.R945S|CTD-2012K14.3_ENST00000563083.1_RNA|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.R959S|FAM65A_ENST00000540839.3_Missense_Mutation_p.R964S	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	949						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R945S(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		AGTTCAGCAGGCGGTGGGAGA	0.652																																						uc010vjp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2893-2895)AGG>AGT		hypothetical protein LOC79567							52.0	60.0	57.0					16																	67578699		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67578699G>T	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2847G>T	16.37:g.67578699G>T	ENSP00000368614:p.Arg949Ser					FAM65A_uc002eth.2_Missense_Mutation_p.R945S|FAM65A_uc010cej.2_Missense_Mutation_p.R948S|FAM65A_uc010vjq.1_Missense_Mutation_p.R959S|FAM65A_uc002etk.2_Missense_Mutation_p.R943S	p.R965S	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	16	2991	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	949					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.2895G>T	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.184|8.184	0.794560|0.794560	0.16327|0.16327	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000428437|ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	.|T;T;T	.|0.75821	.|-0.97;-0.97;-0.97	5.65|5.65	2.68|2.68	0.31781|0.31781	.|.	.|0.399868	.|0.29861	.|N	.|0.011002	T|T	0.49830|0.49830	0.1580|0.1580	N|N	0.14661|0.14661	0.345|0.345	0.26332|0.26332	N|N	0.977507|0.977507	.|P;P;P	.|0.44260	.|0.83;0.83;0.83	.|B;B;B	.|0.36289	.|0.221;0.221;0.221	T|T	0.48031|0.48031	-0.9070|-0.9070	5|10	.|0.09338	.|T	.|0.73	-11.3679|-11.3679	11.4344|11.4344	0.50060|0.50060	0.1885:0.0:0.8115:0.0|0.1885:0.0:0.8115:0.0	.|.	.|959;965;949	.|B4DIM2;E9PBS3;Q6ZS17	.|.;.;FA65A_HUMAN	S|S	939|949;945;965;959	.|ENSP00000368614:R949S;ENSP00000042381:R945S;ENSP00000400099:R965S	.|ENSP00000042381:R945S	A|R	+|+	1|3	0|2	FAM65A|FAM65A	66136200|66136200	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.099000|0.099000	0.18886|0.18886	3.119000|3.119000	0.50422|0.50422	0.354000|0.354000	0.24105|0.24105	-0.794000|-0.794000	0.03295|0.03295	GCG|AGG		PASS	0.652	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		12	150	12	150	---	---	---	---
CTCF	10664	broad.mit.edu	37	16	67671757	67671757	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:67671757C>G	ENST00000264010.4	+	12	2610	c.2166C>G	c.(2164-2166)ctC>ctG	p.L722L	CTCF_ENST00000401394.1_Silent_p.L394L	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	722					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L722L(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGATGATCCTCAGCATGATGG	0.572																																					Colon(175;1200 1966 6945 23069 27405)	uc002etl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2164-2166)CTC>CTG		CCCTC-binding factor							54.0	50.0	51.0					16																	67671757		2198	4300	6498	SO:0001819	synonymous_variant	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67671757C>G	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.2166C>G	16.37:g.67671757C>G						CTCF_uc010cek.2_Silent_p.L394L|CTCF_uc002etm.1_Silent_p.L209L	p.L722L	NM_006565	NP_006556	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	12	2456	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	722					B5MC38|Q53XI7|Q59EL8	Silent	SNP	ENST00000264010.4	37	c.2166C>G	CCDS10841.1																																																																																				PASS	0.572	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		8	57	8	57	---	---	---	---
PRMT7	54496	broad.mit.edu	37	16	68373336	68373336	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:68373336G>A	ENST00000339507.5	+	8	1446	c.616G>A	c.(616-618)Gga>Aga	p.G206R	PRMT7_ENST00000441236.1_Missense_Mutation_p.G156R|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000449359.3_Missense_Mutation_p.G156R|PRMT7_ENST00000348497.4_Missense_Mutation_p.G132R			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	206	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.G206R(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		GACCAGCCTCGGAGAGCAGGT	0.612																																						uc002evy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(616-618)GGA>AGA		protein arginine methyltransferase 7							123.0	97.0	106.0					16																	68373336		2198	4300	6498	SO:0001583	missense	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68373336G>A	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.616G>A	16.37:g.68373336G>A	ENSP00000343103:p.Gly206Arg					PRMT7_uc002evx.1_Missense_Mutation_p.G206R|PRMT7_uc010vlg.1_Missense_Mutation_p.G156R|PRMT7_uc002evz.1_Missense_Mutation_p.G52R	p.G206R	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	8	892	+		Ovarian(137;0.192)	206					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	c.616G>A	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745568	0.89663	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.51	5.51	0.81932	.	0.166576	0.42682	D	0.000674	T	0.46946	0.1419	M	0.79258	2.445	0.39698	D	0.971144	D;D;D;D	0.89917	0.997;1.0;0.985;0.996	P;D;P;P	0.70487	0.681;0.969;0.788;0.798	T	0.33266	-0.9875	10	0.26408	T	0.33	-21.3587	17.2626	0.87075	0.0:0.0:1.0:0.0	.	156;132;206;206	Q9NVM4-3;Q9NVM4-2;Q9NVM4;Q9NVM4-4	.;.;ANM7_HUMAN;.	R	156;156;132;206	ENSP00000414716:G156R;ENSP00000409324:G156R;ENSP00000345775:G132R;ENSP00000343103:G206R	ENSP00000343103:G206R	G	+	1	0	PRMT7	66930837	0.423000	0.25482	0.599000	0.28851	0.943000	0.58893	3.002000	0.49496	2.733000	0.93635	0.655000	0.94253	GGA		PASS	0.612	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		73	82	73	82	---	---	---	---
CHTF8	54921	broad.mit.edu	37	16	69154385	69154385	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:69154385C>G	ENST00000448552.2	-	4	430	c.309G>C	c.(307-309)aaG>aaC	p.K103N	CHTF8_ENST00000398235.2_Missense_Mutation_p.K103N|CHTF8_ENST00000518041.1_Intron|CHTF8_ENST00000520529.1_3'UTR|CHTF8_ENST00000522091.1_3'UTR|CHTF8_ENST00000574807.1_5'Flank|CHTF8_ENST00000306585.6_5'UTR|CHTF8_ENST00000523421.1_Intron|CHTF8_ENST00000519520.1_3'UTR	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)	103					cell cycle (GO:0007049)|DNA replication (GO:0006260)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K103N(1)									TGAAAAGGATCTTGTCTTTGA	0.532																																						uc002ewn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(307-309)AAG>AAC		chromosome transmission fidelity factor 8							129.0	131.0	131.0					16																	69154385		1896	4112	6008	SO:0001583	missense	54921				cell cycle|DNA replication	nucleus	DNA binding	g.chr16:69154385C>G		CCDS42185.1	16q22.1	2009-01-14				ENSG00000168802			24353	protein-coding gene	gene with protein product		613202				12766176	Standard	NM_001039690		Approved	FLJ20400, CTF8, DERPC	uc002ewo.2	P0CG12		ENST00000448552.2:c.309G>C	16.37:g.69154385C>G	ENSP00000408367:p.Lys103Asn					CHTF8_uc002ewm.1_5'UTR|CHTF8_uc002ewo.1_Missense_Mutation_p.K84N|CHTF8_uc002ewp.1_Missense_Mutation_p.K103N	p.K103N	NM_001040146	NP_001035236	P0CG13	CTF8_HUMAN			4	410	-			103					A8MYX8|Q71E72|Q8NDH8|Q8WV66|Q9NX73	Missense_Mutation	SNP	ENST00000448552.2	37	c.309G>C	CCDS42185.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.75|17.75	3.466486|3.466486	0.63625|0.63625	.|.	.|.	ENSG00000168802|ENSG00000168802	ENST00000522497|ENST00000448552;ENST00000398235	.|.	.|.	.|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|.	.|.	.|.	.|.	T|T	0.82139|0.82139	0.4972|0.4972	M|M	0.91354|0.91354	3.2|3.2	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.85562|0.85562	0.1228|0.1228	5|8	.|0.87932	.|D	.|0	.|.	12.1702|12.1702	0.54155|0.54155	0.0:0.9212:0.0:0.0788|0.0:0.9212:0.0:0.0788	.|.	.|103	.|P0CG13	.|CTF8_HUMAN	H|N	126|103	.|.	.|ENSP00000381290:K103N	D|K	-|-	1|3	0|2	CHTF8|CHTF8	67711886|67711886	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.485000|1.485000	0.35519|0.35519	2.533000|2.533000	0.85409|0.85409	0.650000|0.650000	0.86243|0.86243	GAT|AAG		PASS	0.532	CHTF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376352.2	NM_017804		5	110	5	110	---	---	---	---
NFAT5	10725	broad.mit.edu	37	16	69704161	69704161	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:69704161A>T	ENST00000354436.2	+	8	1791	c.1473A>T	c.(1471-1473)gaA>gaT	p.E491D	NFAT5_ENST00000393742.2_Missense_Mutation_p.E415D|NFAT5_ENST00000432919.1_Missense_Mutation_p.E509D|NFAT5_ENST00000349945.1_Missense_Mutation_p.E415D|NFAT5_ENST00000566899.1_Missense_Mutation_p.E415D|NFAT5_ENST00000567239.1_Missense_Mutation_p.E509D	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	491					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E509D(1)|p.E415D(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGAAGTCAGAAGCTGAAATTG	0.249																																						uc002exm.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1471-1473)GAA>GAT		nuclear factor of activated T-cells 5 isoform c							31.0	33.0	32.0					16																	69704161		2189	4267	6456	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69704161A>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1473A>T	16.37:g.69704161A>T	ENSP00000346420:p.Glu491Asp					NFAT5_uc002exh.1_Missense_Mutation_p.E285D|NFAT5_uc002exi.2_Missense_Mutation_p.E415D|NFAT5_uc002exj.1_Missense_Mutation_p.E415D|NFAT5_uc002exk.1_Missense_Mutation_p.E415D|NFAT5_uc002exl.1_Missense_Mutation_p.E509D|NFAT5_uc002exn.1_Missense_Mutation_p.E509D	p.E491D	NM_006599	NP_006590	O94916	NFAT5_HUMAN			8	2681	+			491					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.1473A>T	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.017178	0.75161	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.97	4.97	0.65823	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51007	0.1649	M	0.78344	2.41	0.58432	D	0.999997	P;P;P;P	0.45126	0.723;0.851;0.741;0.819	P;P;P;P	0.54270	0.563;0.646;0.735;0.747	T	0.56926	-0.7898	10	0.72032	D	0.01	.	14.652	0.68805	1.0:0.0:0.0:0.0	.	509;491;509;415	A2RRB4;O94916;E9PHR7;O94916-2	.;NFAT5_HUMAN;.;.	D	509;509;415;491;415	ENSP00000396538:E509D;ENSP00000338806:E415D;ENSP00000346420:E491D;ENSP00000377343:E415D	ENSP00000338806:E415D	E	+	3	2	NFAT5	68261662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.413000	0.59795	1.853000	0.53794	0.477000	0.44152	GAA		PASS	0.249	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		4	74	4	74	---	---	---	---
VAC14	55697	broad.mit.edu	37	16	70818111	70818111	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:70818111C>G	ENST00000261776.5	-	5	759	c.499G>C	c.(499-501)Gag>Cag	p.E167Q		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	167					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)	p.E167Q(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TTGTTGCTCTCAGTCACAATG	0.557																																						uc002ezm.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(499-501)GAG>CAG		Vac14 homolog							87.0	65.0	72.0					16																	70818111		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70818111C>G	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.499G>C	16.37:g.70818111C>G	ENSP00000261776:p.Glu167Gln					VAC14_uc010cfw.2_5'UTR|VAC14_uc002ezn.2_Intron	p.E167Q	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN			5	757	-		Ovarian(137;0.0699)	167					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.499G>C	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208419	0.95069	.	.	ENSG00000103043	ENST00000261776	D	0.97620	-4.46	5.9	5.9	0.94986	Armadillo-like helical (1);Armadillo-type fold (1);	0.044394	0.85682	D	0.000000	D	0.98495	0.9498	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.98816	1.0745	10	0.62326	D	0.03	-31.5398	20.2789	0.98501	0.0:1.0:0.0:0.0	.	167	Q08AM6	VAC14_HUMAN	Q	167	ENSP00000261776:E167Q	ENSP00000261776:E167Q	E	-	1	0	VAC14	69375612	1.000000	0.71417	0.988000	0.46212	0.977000	0.68977	7.469000	0.80959	2.788000	0.95919	0.650000	0.86243	GAG		PASS	0.557	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		30	31	30	31	---	---	---	---
CMTR2	55783	broad.mit.edu	37	16	71317774	71317774	+	Missense_Mutation	SNP	C	C	T	rs148258352	byFrequency	TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:71317774C>T	ENST00000338099.5	-	3	2386	c.2050G>A	c.(2050-2052)Gca>Aca	p.A684T	CMTR2_ENST00000434935.2_Missense_Mutation_p.A684T			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	684					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)	p.A684T(1)									AGCAGGACTGCGCAGGTCCTC	0.433													C|||	4	0.000798722	0.0008	0.0	5008	,	,		19274	0.0		0.003	False		,,,				2504	0.0					uc010cga.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2050-2052)GCA>ACA		FtsJ methyltransferase domain containing 1		C	THR/ALA,THR/ALA	1,4395	2.1+/-5.4	0,1,2197	77.0	79.0	78.0		2050,2050	4.8	1.0	16	dbSNP_134	78	5,8593	4.3+/-15.6	0,5,4294	yes	missense,missense	FTSJD1	NM_001099642.1,NM_018348.5	58,58	0,6,6491	TT,TC,CC		0.0582,0.0227,0.0462	benign,benign	684/771,684/771	71317774	6,12988	2198	4299	6497	SO:0001583	missense	55783					integral to membrane	methyltransferase activity|nucleic acid binding	g.chr16:71317774C>T	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.2050G>A	16.37:g.71317774C>T	ENSP00000337512:p.Ala684Thr					FTSJD1_uc002ezy.3_Missense_Mutation_p.A684T|FTSJD1_uc002ezz.3_Missense_Mutation_p.A684T	p.A684T	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN			3	2456	-			684					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	c.2050G>A	CCDS10898.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	11.97	1.796838	0.31777	2.27E-4	5.82E-4	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.15372	2.43;2.43	5.78	4.83	0.62350	.	0.123635	0.53938	D	0.000043	T	0.07999	0.0200	N	0.20986	0.625	0.47547	D	0.999457	B	0.26708	0.157	B	0.15052	0.012	T	0.11966	-1.0566	10	0.02654	T	1	-15.3396	6.5752	0.22562	0.1464:0.7044:0.0:0.1492	.	684	Q8IYT2	FTSJ1_HUMAN	T	684	ENSP00000337512:A684T;ENSP00000411148:A684T	ENSP00000337512:A684T	A	-	1	0	FTSJD1	69875275	0.999000	0.42202	1.000000	0.80357	0.906000	0.53458	3.198000	0.51035	1.445000	0.47624	0.563000	0.77884	GCA		PASS	0.433	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		8	184	8	184	---	---	---	---
ZNF19	7567	broad.mit.edu	37	16	71509875	71509875	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:71509875C>G	ENST00000288177.5	-	6	830	c.575G>C	c.(574-576)aGt>aCt	p.S192T	ZNF19_ENST00000565100.2_Missense_Mutation_p.S122T|ZNF19_ENST00000564230.1_Missense_Mutation_p.S192T|ZNF19_ENST00000565637.1_Missense_Mutation_p.S150T|ZNF19_ENST00000567225.1_Intron|AC010547.9_ENST00000561908.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	192					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.S192T(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TCCACACTCACTACACTCAAA	0.458																																						uc010cgc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(574-576)AGT>ACT		zinc finger protein 19							79.0	81.0	80.0					16																	71509875		2198	4300	6498	SO:0001583	missense	7567					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:71509875C>G	X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.575G>C	16.37:g.71509875C>G	ENSP00000288177:p.Ser192Thr					ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Missense_Mutation_p.S180T|ZNF19_uc002fal.1_Missense_Mutation_p.S180T|ZNF19_uc002fam.1_Missense_Mutation_p.S192T	p.S192T	NM_006961	NP_008892	P17023	ZNF19_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)	6	1081	-		Ovarian(137;0.00965)	192			C2H2-type 2.		A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	c.575G>C	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	C	1.030	-0.682112	0.03353	.	.	ENSG00000157429	ENST00000288177	T	0.18657	2.2	3.49	-6.17	0.02091	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.003300	0.08037	N	0.994450	T	0.09158	0.0226	N	0.26042	0.785	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36578	-0.9742	10	0.18710	T	0.47	.	0.884	0.01240	0.3965:0.2744:0.1344:0.1947	.	192	P17023	ZNF19_HUMAN	T	192	ENSP00000288177:S192T	ENSP00000288177:S192T	S	-	2	0	ZNF19	70067376	0.000000	0.05858	0.009000	0.14445	0.062000	0.15995	-5.308000	0.00133	-1.323000	0.02275	-1.911000	0.00521	AGT		PASS	0.458	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961		4	139	4	139	---	---	---	---
MARVELD3	91862	broad.mit.edu	37	16	71663343	71663343	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:71663343G>C	ENST00000268485.3	+	2	585	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	RP11-432I5.2_ENST00000562763.1_RNA|MARVELD3_ENST00000299952.4_Missense_Mutation_p.E181Q|MARVELD3_ENST00000565261.1_Missense_Mutation_p.Q126H|MARVELD3_ENST00000567501.1_5'UTR|MARVELD3_ENST00000567566.1_Missense_Mutation_p.E181Q	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	181					cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)		p.E181Q(2)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				TTACCAGTCAGAGGCGGAAGG	0.507																																						uc002fat.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(541-543)GAG>CAG		MARVEL domain containing 3 isoform 2							112.0	103.0	106.0					16																	71663343		2198	4300	6498	SO:0001583	missense	91862					integral to membrane		g.chr16:71663343G>C	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.541G>C	16.37:g.71663343G>C	ENSP00000268485:p.Glu181Gln					MARVELD3_uc002fas.1_Missense_Mutation_p.E181Q|MARVELD3_uc002fau.2_Missense_Mutation_p.E181Q|MARVELD3_uc010cge.2_Missense_Mutation_p.Q126H	p.E181Q	NM_052858	NP_443090	Q96A59	MALD3_HUMAN			2	604	+		Ovarian(137;0.125)	181			Cytoplasmic (Potential).		A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000268485.3	37	c.541G>C	CCDS10904.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432621	0.43224	.	.	ENSG00000140832	ENST00000268485;ENST00000299952	T;T	0.49432	0.78;0.8	5.57	5.57	0.84162	.	0.505731	0.22630	N	0.057599	T	0.69106	0.3074	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.988;0.998	T	0.68153	-0.5484	10	0.46703	T	0.11	-26.4638	18.1265	0.89587	0.0:0.0:1.0:0.0	.	181;181;204	Q96A59-2;Q96A59;Q9BSH2	.;MALD3_HUMAN;.	Q	181	ENSP00000268485:E181Q;ENSP00000299952:E181Q	ENSP00000268485:E181Q	E	+	1	0	MARVELD3	70220844	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	5.120000	0.64685	2.611000	0.88343	0.561000	0.74099	GAG		PASS	0.507	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		6	141	6	141	---	---	---	---
MARVELD3	91862	broad.mit.edu	37	16	71668506	71668506	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:71668506G>T	ENST00000268485.3	+	3	1050	c.1006G>T	c.(1006-1008)Gtg>Ttg	p.V336L	MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	336	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)		p.V336L(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				TGGCTCTCCTGTGTGTAAAGA	0.557																																						uc002fat.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1006-1008)GTG>TTG		MARVEL domain containing 3 isoform 2							72.0	69.0	70.0					16																	71668506		2198	4300	6498	SO:0001583	missense	91862					integral to membrane		g.chr16:71668506G>T	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.1006G>T	16.37:g.71668506G>T	ENSP00000268485:p.Val336Leu					MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron	p.V336L	NM_052858	NP_443090	Q96A59	MALD3_HUMAN			3	1069	+		Ovarian(137;0.125)	336			MARVEL.|Extracellular (Potential).		A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000268485.3	37	c.1006G>T	CCDS10904.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.552173	0.45487	.	.	ENSG00000140832	ENST00000268485	T	0.53423	0.62	5.55	5.55	0.83447	Marvel (1);	.	.	.	.	T	0.65637	0.2710	M	0.72118	2.19	0.80722	D	1	D	0.60575	0.988	P	0.59171	0.853	T	0.66662	-0.5867	9	0.52906	T	0.07	.	18.51	0.90913	0.0:0.0:1.0:0.0	.	336	Q96A59	MALD3_HUMAN	L	336	ENSP00000268485:V336L	ENSP00000268485:V336L	V	+	1	0	MARVELD3	70226007	0.637000	0.27216	0.933000	0.37362	0.008000	0.06430	0.949000	0.29109	2.606000	0.88127	0.655000	0.94253	GTG		PASS	0.557	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		5	67	5	67	---	---	---	---
MARVELD3	91862	broad.mit.edu	37	16	71674663	71674663	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:71674663C>G	ENST00000299952.4	+	3	1009	c.966C>G	c.(964-966)ctC>ctG	p.L322L	MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR|PHLPP2_ENST00000540628.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	325	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)		p.L322L(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GTGTTTACCTCCACGTGGCTC	0.577																																						uc002fau.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(964-966)CTC>CTG		MARVEL domain containing 3 isoform 1							74.0	72.0	73.0					16																	71674663		2198	4300	6498	SO:0001819	synonymous_variant	91862					integral to membrane		g.chr16:71674663C>G	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000299952.4:c.966C>G	16.37:g.71674663C>G						PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR	p.L322L	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN			3	1029	+		Ovarian(137;0.125)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A8K820|H3BQM5|Q96MJ4	Silent	SNP	ENST00000299952.4	37	c.966C>G	CCDS32478.1																																																																																				PASS	0.577	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268990.1	NM_052858		41	55	41	55	---	---	---	---
PHLPP2	23035	broad.mit.edu	37	16	71748541	71748541	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:71748541G>A	ENST00000568954.1	-	2	536	c.158C>T	c.(157-159)tCt>tTt	p.S53F	PHLPP2_ENST00000360429.3_Missense_Mutation_p.S53F|PHLPP2_ENST00000393524.2_Missense_Mutation_p.S53F|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S53F|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S88F			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	53	Poly-Ser.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.S53F(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ggaggaggaagaggaagagga	0.473																																						uc002fax.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(157-159)TCT>TTT		PH domain and leucine rich repeat protein							193.0	134.0	154.0					16																	71748541		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71748541G>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.158C>T	16.37:g.71748541G>A	ENSP00000457991:p.Ser53Phe					PHLPP2_uc010cgf.2_Missense_Mutation_p.S53F|PHLPP2_uc002fay.1_Missense_Mutation_p.S53F	p.S53F	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			1	164	-			53			Poly-Ser.		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.158C>T	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766490	0.31228	.	.	ENSG00000040199	ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.46819	1.3;1.4;0.86	5.58	3.59	0.41128	.	.	.	.	.	T	0.31263	0.0791	N	0.08118	0	0.09310	N	1	B;B	0.30146	0.27;0.177	B;B	0.37692	0.256;0.131	T	0.28744	-1.0034	9	0.59425	D	0.04	-4.184	7.4146	0.27036	0.1502:0.1358:0.714:0.0	.	53;53	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	F	53	ENSP00000353610:S53F;ENSP00000348611:S53F;ENSP00000377159:S53F	ENSP00000348611:S53F	S	-	2	0	PHLPP2	70306042	0.241000	0.23857	0.003000	0.11579	0.576000	0.36127	3.657000	0.54474	1.347000	0.45714	0.591000	0.81541	TCT		PASS	0.473	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		5	66	5	66	---	---	---	---
PMFBP1	83449	broad.mit.edu	37	16	72158677	72158677	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:72158677C>A	ENST00000537792.1	-	1	75	c.76G>T	c.(76-78)Gac>Tac	p.D26Y	PMFBP1_ENST00000355636.6_Missense_Mutation_p.D715Y|PMFBP1_ENST00000237353.10_Missense_Mutation_p.D860Y|PMFBP1_ENST00000537465.1_Missense_Mutation_p.D865Y			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	865						cytoplasm (GO:0005737)		p.D860Y(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TCCTTATCGTCCTCAAGGAGG	0.572											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fcc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2593-2595)GAC>TAC		polyamine modulated factor 1 binding protein 1							150.0	133.0	139.0					16																	72158677		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72158677C>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000537792.1:c.76G>T	16.37:g.72158677C>A	ENSP00000443366:p.Asp26Tyr		OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1135	PMFBP1_uc002fcd.2_Missense_Mutation_p.D860Y|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.D715Y|PMFBP1_uc010cgo.1_Missense_Mutation_p.D156Y	p.D865Y	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			17	2765	-		Ovarian(137;0.179)	865			Potential.		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000537792.1	37	c.2593G>T		.	.	.	.	.	.	.	.	.	.	C	11.88	1.770049	0.31320	.	.	ENSG00000118557	ENST00000537792;ENST00000537465;ENST00000237353;ENST00000355636	T;T;T;T	0.53206	0.63;2.6;2.51;2.6	5.09	5.09	0.68999	.	0.126220	0.36374	N	0.002632	T	0.66015	0.2747	M	0.68317	2.08	0.18873	N	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.967;0.998	T	0.59716	-0.7402	10	0.72032	D	0.01	-14.4873	13.8691	0.63608	0.0:1.0:0.0:0.0	.	865;860;865	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	Y	26;865;860;715	ENSP00000443366:D26Y;ENSP00000443817:D865Y;ENSP00000237353:D860Y;ENSP00000347854:D715Y	ENSP00000237353:D860Y	D	-	1	0	PMFBP1	70716178	0.439000	0.25610	0.079000	0.20413	0.013000	0.08279	3.527000	0.53517	2.640000	0.89533	0.655000	0.94253	GAC		PASS	0.572	PMFBP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396523.1	NM_031293		109	132	109	132	---	---	---	---
CHST5	23563	broad.mit.edu	37	16	75563946	75563946	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:75563946C>T	ENST00000336257.3	-	3	1731	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	CHST5_ENST00000541075.1_Missense_Mutation_p.A119T|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	113					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.A113T(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TCGCGCACGGCCATGTGCAGC	0.607																																						uc002fei.2																			1	Substitution - Missense(1)		lung(1)		0						c.(337-339)GCC>ACC		carbohydrate (N-acetylglucosamine 6-O)							63.0	55.0	57.0					16																	75563946		2198	4300	6498	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563946C>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.337G>A	16.37:g.75563946C>T	ENSP00000338783:p.Ala113Thr					CHST5_uc002fej.1_Missense_Mutation_p.A119T	p.A113T	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN			3	1732	-			113			Lumenal (Potential).		B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.337G>A	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255627	0.59321	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.82619	-1.63;-1.63	2.73	2.73	0.32206	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	D	0.89098	0.3487	10	0.48119	T	0.1	.	12.3965	0.55389	0.0:1.0:0.0:0.0	.	119;113	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	T	113;119	ENSP00000338783:A113T;ENSP00000441220:A119T	ENSP00000338783:A113T	A	-	1	0	CHST5	74121447	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	5.486000	0.66856	1.514000	0.48869	0.313000	0.20887	GCC		PASS	0.607	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		57	51	57	51	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76528891	76528891	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:76528891G>A	ENST00000476707.1	+	13	2313	c.2174G>A	c.(2173-2175)tGt>tAt	p.C725Y	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.C721Y|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.C649Y|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.C673Y			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	722	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.C697Y(1)|p.C649Y(1)|p.C721Y(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTTCAAAAATGTACTTGTGGA	0.418																																						uc002feu.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|pancreas(1)	2						c.(2164-2166)TGT>TAT		cell recognition protein CASPR4 isoform 1							174.0	169.0	171.0					16																	76528891		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76528891G>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2174G>A	16.37:g.76528891G>A	ENSP00000417628:p.Cys725Tyr					CNTNAP4_uc002fev.1_Missense_Mutation_p.C586Y|CNTNAP4_uc010chb.1_Missense_Mutation_p.C649Y|CNTNAP4_uc002fex.1_Missense_Mutation_p.C725Y|CNTNAP4_uc002few.2_Missense_Mutation_p.C697Y	p.C722Y	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			16	2550	+			722			Extracellular (Potential).|Fibrinogen C-terminal.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.2165G>A		.	.	.	.	.	.	.	.	.	.	G	24.7	4.560376	0.86335	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.18	5.18	0.71444	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	0.000000	0.45361	D	0.000376	T	0.74543	0.3730	.	.	.	0.80722	D	1	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	D;D;D;D	0.87578	0.947;0.99;0.998;0.996	T	0.76977	-0.2759	9	0.87932	D	0	.	18.8634	0.92281	0.0:0.0:1.0:0.0	.	649;725;697;722	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	Y	721;673;649;725	ENSP00000306893:C721Y;ENSP00000439733:C673Y;ENSP00000418741:C649Y;ENSP00000417628:C725Y	ENSP00000306893:C721Y	C	+	2	0	CNTNAP4	75086392	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	9.550000	0.98110	2.861000	0.98227	0.650000	0.86243	TGT		PASS	0.418	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		16	280	16	280	---	---	---	---
CDYL2	124359	broad.mit.edu	37	16	80666953	80666953	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:80666953G>C	ENST00000570137.2	-	3	952	c.797C>G	c.(796-798)tCc>tGc	p.S266C	CDYL2_ENST00000563890.1_Missense_Mutation_p.S267C|CDYL2_ENST00000562812.1_Missense_Mutation_p.S267C|CDYL2_ENST00000566173.1_Missense_Mutation_p.S267C	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	266						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.S266C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GGTCTGACTGGACAGCAGGAT	0.552																																						uc002ffs.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(796-798)TCC>TGC		chromodomain protein, Y-like 2							174.0	125.0	142.0					16																	80666953		2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80666953G>C	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.797C>G	16.37:g.80666953G>C	ENSP00000476295:p.Ser266Cys						p.S266C	NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN			3	902	-			266					Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.797C>G	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345664	0.82022	.	.	ENSG00000166446	ENST00000299564	T	0.45668	0.89	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.65037	0.2653	M	0.73598	2.24	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.70026	-0.4985	10	0.72032	D	0.01	.	16.3909	0.83537	0.0:0.0:1.0:0.0	.	266	Q8N8U2	CDYL2_HUMAN	C	266	ENSP00000299564:S266C	ENSP00000299564:S266C	S	-	2	0	CDYL2	79224454	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.986000	0.93492	2.347000	0.79759	0.491000	0.48974	TCC		PASS	0.552	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		78	102	78	102	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81194499	81194499	+	RNA	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:81194499G>A	ENST00000525539.1	-	0	3488				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.P1163P(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTGAATGCCGGGGCAGCAGGA	0.567																																						uc002fgh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3487-3489)CCC>CCT		polycystin 1-like 2 isoform a							68.0	71.0	70.0					16																	81194499		2134	4253	6387			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81194499G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81194499G>A						PKD1L2_uc002fgg.1_RNA	p.P1163P	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			22	3489	-			1163			Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.3489C>T																																																																																					PASS	0.567	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			12	34	12	34	---	---	---	---
NECAB2	54550	broad.mit.edu	37	16	84024221	84024221	+	Silent	SNP	G	G	A	rs376695468		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:84024221G>A	ENST00000305202.4	+	6	599	c.582G>A	c.(580-582)caG>caA	p.Q194Q	NECAB2_ENST00000565691.1_Silent_p.Q111Q	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	194						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.Q194Q(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						TCGAGGAACAGACCAGCCAGC	0.627																																						uc002fhd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(580-582)CAG>CAA		neuronal calcium-binding protein 2		G		2,4398	4.2+/-10.8	0,2,2198	77.0	74.0	75.0		582	4.2	1.0	16		75	0,8600		0,0,4300	no	coding-synonymous	NECAB2	NM_019065.2		0,2,6498	AA,AG,GG		0.0,0.0455,0.0154		194/387	84024221	2,12998	2200	4300	6500	SO:0001819	synonymous_variant	54550				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding	g.chr16:84024221G>A	AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	23746	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 2"""	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.582G>A	16.37:g.84024221G>A						NECAB2_uc002fhe.2_Silent_p.Q111Q	p.Q194Q	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN			6	599	+			194			Potential.		A2RRG3|O75547|Q6ZSK0	Silent	SNP	ENST00000305202.4	37	c.582G>A	CCDS10940.1																																																																																				PASS	0.627	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2	NM_019065		8	81	8	81	---	---	---	---
KCNG4	93107	broad.mit.edu	37	16	84270759	84270759	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:84270759G>A	ENST00000308251.4	-	2	401	c.333C>T	c.(331-333)ttC>ttT	p.F111F	KCNG4_ENST00000568181.1_Silent_p.F111F	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	111					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.F111F(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TGTCGAAGAAGAACTCCTGGC	0.627																																						uc010voc.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)	3						c.(331-333)TTC>TTT		potassium voltage-gated channel, subfamily G,							62.0	64.0	63.0					16																	84270759		2200	4300	6500	SO:0001819	synonymous_variant	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270759G>A	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.333C>T	16.37:g.84270759G>A						KCNG4_uc002fhu.1_Silent_p.F111F	p.F111F	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN			2	454	-			111			Cytoplasmic (Potential).		Q96H24	Silent	SNP	ENST00000308251.4	37	c.333C>T	CCDS10945.1																																																																																				PASS	0.627	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		42	41	42	41	---	---	---	---
FOXF1	2294	broad.mit.edu	37	16	86544562	86544562	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:86544562G>T	ENST00000262426.4	+	1	430	c.387G>T	c.(385-387)gaG>gaT	p.E129D	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	129					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)	p.E104D(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CGGCCAGCGAGTTCATGTTCG	0.642																																						uc002fjl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(385-387)GAG>GAT		forkhead box F1							67.0	82.0	77.0					16																	86544562		2197	4298	6495	SO:0001583	missense	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86544562G>T	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.387G>T	16.37:g.86544562G>T	ENSP00000262426:p.Glu129Asp					uc002fjk.1_5'Flank	p.E129D	NM_001451	NP_001442	Q12946	FOXF1_HUMAN			1	430	+			129			Fork-head.		B2RAF4|Q5FWE5	Missense_Mutation	SNP	ENST00000262426.4	37	c.387G>T	CCDS10957.2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325613	0.81580	.	.	ENSG00000103241	ENST00000262426	D	0.95724	-3.79	4.51	4.51	0.55191	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.95560	0.8557	L	0.37850	1.14	0.80722	D	1	D	0.55605	0.972	P	0.61070	0.883	D	0.95505	0.8581	10	0.45353	T	0.12	.	16.1868	0.81960	0.0:0.0:1.0:0.0	.	129	Q12946	FOXF1_HUMAN	D	129	ENSP00000262426:E129D	ENSP00000262426:E129D	E	+	3	2	FOXF1	85102063	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.510000	0.60455	2.052000	0.61016	0.650000	0.86243	GAG		PASS	0.642	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451		10	271	10	271	---	---	---	---
ZCCHC14	23174	broad.mit.edu	37	16	87446239	87446239	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:87446239C>G	ENST00000268616.4	-	12	1894	c.1677G>C	c.(1675-1677)atG>atC	p.M559I		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	559							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.M559I(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GCACGTCCATCATGGCGCTGC	0.557																																						uc002fjz.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|breast(1)	2						c.(1675-1677)ATG>ATC		zinc finger, CCHC domain containing 14							84.0	87.0	86.0					16																	87446239		2198	4300	6498	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87446239C>G	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1677G>C	16.37:g.87446239C>G	ENSP00000268616:p.Met559Ile					ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.M335I	p.M559I	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	1704	-			559					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.1677G>C	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	1.909	-0.451198	0.04572	.	.	ENSG00000140948	ENST00000268616	T	0.15139	2.45	5.57	4.6	0.57074	.	0.479412	0.22293	N	0.061979	T	0.08088	0.0202	N	0.12182	0.205	0.09310	N	1	B;B	0.15473	0.013;0.008	B;B	0.11329	0.006;0.003	T	0.32481	-0.9905	10	0.20046	T	0.44	-6.4261	5.187	0.15189	0.2542:0.5487:0.1258:0.0713	.	559;559	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	I	559	ENSP00000268616:M559I	ENSP00000268616:M559I	M	-	3	0	ZCCHC14	86003740	0.994000	0.37717	0.033000	0.17914	0.083000	0.17756	1.458000	0.35223	1.293000	0.44690	0.563000	0.77884	ATG		PASS	0.557	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		72	96	72	96	---	---	---	---
CPNE7	27132	broad.mit.edu	37	16	89650455	89650455	+	Missense_Mutation	SNP	C	C	T	rs529101968		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:89650455C>T	ENST00000268720.5	+	6	807	c.677C>T	c.(676-678)tCg>tTg	p.S226L	CPNE7_ENST00000319518.8_Missense_Mutation_p.S151L	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	226					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)	p.S226L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GAGGACATCTCGGGGAACAAC	0.711																																						uc002fnp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(676-678)TCG>TTG		copine 7 isoform b							54.0	50.0	51.0					16																	89650455		2196	4300	6496	SO:0001583	missense	27132				lipid metabolic process		transporter activity	g.chr16:89650455C>T	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.677C>T	16.37:g.89650455C>T	ENSP00000268720:p.Ser226Leu					CPNE7_uc002fnq.2_Missense_Mutation_p.S151L	p.S226L	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)	6	807	+		all_hematologic(23;0.0748)	226						Missense_Mutation	SNP	ENST00000268720.5	37	c.677C>T	CCDS10980.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772890	0.90108	.	.	ENSG00000178773	ENST00000319518;ENST00000268720	T;T	0.15718	2.4;2.42	3.32	3.32	0.38043	C2 calcium-dependent membrane targeting (1);	0.388553	0.26563	N	0.023673	T	0.20088	0.0483	L	0.49350	1.555	0.46564	D	0.999109	P;D	0.56287	0.941;0.975	B;P	0.44673	0.387;0.457	T	0.08106	-1.0738	10	0.72032	D	0.01	-4.4637	13.9128	0.63878	0.0:1.0:0.0:0.0	.	151;226	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	L	151;226	ENSP00000317374:S151L;ENSP00000268720:S226L	ENSP00000268720:S226L	S	+	2	0	CPNE7	88177956	1.000000	0.71417	0.928000	0.36995	0.916000	0.54674	5.041000	0.64196	1.851000	0.53745	0.491000	0.48974	TCG		PASS	0.711	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			47	44	47	44	---	---	---	---
DEF8	54849	broad.mit.edu	37	16	90020690	90020690	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:90020690C>T	ENST00000268676.7	+	3	302	c.213C>T	c.(211-213)ttC>ttT	p.F71F	DEF8_ENST00000563594.1_Silent_p.F10F|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000570182.1_Silent_p.F10F|DEF8_ENST00000563795.1_Silent_p.F10F|DEF8_ENST00000418391.2_Silent_p.F10F|DEF8_ENST00000569453.1_Silent_p.F10F	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	71					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)	p.F71F(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TGGCCCGTTTCCGGCAGGCCC	0.642																																						uc002fpn.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(211-213)TTC>TTT		differentially expressed in FDCP 8 isoform 1							73.0	70.0	71.0					16																	90020690		2198	4300	6498	SO:0001819	synonymous_variant	54849				intracellular signal transduction		zinc ion binding	g.chr16:90020690C>T	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.213C>T	16.37:g.90020690C>T						DEF8_uc002fpl.2_Silent_p.F10F|DEF8_uc002fpm.2_Silent_p.F10F|DEF8_uc002fpo.1_Silent_p.F10F|DEF8_uc002fpp.1_Silent_p.F10F|DEF8_uc010vpq.1_Intron|DEF8_uc010vpr.1_Silent_p.F10F	p.F71F	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	3	302	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	71					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Silent	SNP	ENST00000268676.7	37	c.213C>T	CCDS10989.1																																																																																				PASS	0.642	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		15	107	15	107	---	---	---	---
ABR	29	broad.mit.edu	37	17	1028535	1028535	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:1028535C>T	ENST00000302538.5	-	2	375	c.229G>A	c.(229-231)Gag>Aag	p.E77K	ABR_ENST00000544583.2_Missense_Mutation_p.E31K|ABR_ENST00000574437.1_Missense_Mutation_p.E31K	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	77					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E77K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GCCAGTCCCTCAGGTGGAGTC	0.667																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(229-231)GAG>AAG		active breakpoint cluster region-related							57.0	58.0	58.0					17																	1028535		2203	4300	6503	SO:0001583	missense	29				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	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:1028535C>T	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.229G>A	17.37:g.1028535C>T	ENSP00000303909:p.Glu77Lys					ABR_uc002fse.2_Missense_Mutation_p.E31K|ABR_uc010cjq.1_Missense_Mutation_p.E89K	p.E77K	NM_021962	NP_068781	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	2	339	-			77					B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	c.229G>A	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128333	0.56721	.	.	ENSG00000159842	ENST00000302538;ENST00000544583	T;T	0.20200	2.09;2.1	5.49	5.49	0.81192	Dbl homology (DH) domain (1);	0.000000	0.85682	D	0.000000	T	0.41650	0.1168	L	0.54323	1.7	0.80722	D	1	D;B	0.57571	0.98;0.042	D;B	0.68192	0.956;0.021	T	0.04294	-1.0962	10	0.39692	T	0.17	.	16.8835	0.86069	0.0:1.0:0.0:0.0	.	31;77	B3KW89;Q12979	.;ABR_HUMAN	K	77;31	ENSP00000303909:E77K;ENSP00000442048:E31K	ENSP00000303909:E77K	E	-	1	0	ABR	975285	1.000000	0.71417	0.976000	0.42696	0.525000	0.34531	6.550000	0.73905	2.578000	0.87016	0.655000	0.94253	GAG		PASS	0.667	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			4	97	4	97	---	---	---	---
OR3A1	4994	broad.mit.edu	37	17	3195370	3195370	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:3195370G>C	ENST00000323404.1	-	1	506	c.507C>G	c.(505-507)ctC>ctG	p.L169L	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	169					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L169L(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						CACAGAAGTTGAGCGTGGACA	0.562																																					GBM(20;287 516 18743 28660 36594)	uc002fvh.1																			1	Substitution - coding silent(1)		lung(1)	kidney(2)|central_nervous_system(1)	3						c.(505-507)CTC>CTG		olfactory receptor, family 3, subfamily A,							184.0	168.0	173.0					17																	3195370		2203	4300	6503	SO:0001819	synonymous_variant	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195370G>C	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.507C>G	17.37:g.3195370G>C							p.L169L	NM_002550	NP_002541	P47881	OR3A1_HUMAN			1	507	-			169			Extracellular (Potential).		Q4VB06|Q6IFM4	Silent	SNP	ENST00000323404.1	37	c.507C>G	CCDS11023.1																																																																																				PASS	0.562	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			5	220	5	220	---	---	---	---
OR3A1	4994	broad.mit.edu	37	17	3195694	3195694	+	Silent	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:3195694G>T	ENST00000323404.1	-	1	182	c.183C>A	c.(181-183)ccC>ccA	p.P61P	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	61					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P61P(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						AGAAGTACATGGGGGTGTGGA	0.557																																					GBM(20;287 516 18743 28660 36594)	uc002fvh.1																			1	Substitution - coding silent(1)		lung(1)	kidney(2)|central_nervous_system(1)	3						c.(181-183)CCC>CCA		olfactory receptor, family 3, subfamily A,							87.0	76.0	79.0					17																	3195694		2203	4300	6503	SO:0001819	synonymous_variant	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195694G>T	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.183C>A	17.37:g.3195694G>T							p.P61P	NM_002550	NP_002541	P47881	OR3A1_HUMAN			1	183	-			61			Helical; Name=2; (Potential).		Q4VB06|Q6IFM4	Silent	SNP	ENST00000323404.1	37	c.183C>A	CCDS11023.1																																																																																				PASS	0.557	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			31	49	31	49	---	---	---	---
ASPA	443	broad.mit.edu	37	17	3392563	3392563	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:3392563G>C	ENST00000263080.2	+	4	719	c.561G>C	c.(559-561)ctG>ctC	p.L187L	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Silent_p.L187L	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	187					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)	p.L187L(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	AAGGGGTTCTGAGAGCTGATA	0.318																																						uc010ckg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(559-561)CTG>CTC		aspartoacylase	L-Aspartic Acid(DB00128)						120.0	127.0	124.0					17																	3392563		2203	4299	6502	SO:0001819	synonymous_variant	443				aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding	g.chr17:3392563G>C	S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.561G>C	17.37:g.3392563G>C						SPATA22_uc010vrg.1_Intron|ASPA_uc002fvq.2_Silent_p.L187L	p.L187L	NM_001128085	NP_001121557	P45381	ACY2_HUMAN			5	652	+			187						Silent	SNP	ENST00000263080.2	37	c.561G>C	CCDS11028.1																																																																																				PASS	0.318	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	NM_000049		13	220	13	220	---	---	---	---
TRPV1	7442	broad.mit.edu	37	17	3495371	3495371	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:3495371T>G	ENST00000571088.1	-	2	487	c.274A>C	c.(274-276)Acc>Ccc	p.T92P	TRPV1_ENST00000399756.4_Missense_Mutation_p.T92P|TRPV1_ENST00000425167.2_Missense_Mutation_p.T92P|TRPV1_ENST00000399759.3_Missense_Mutation_p.T92P|SHPK_ENST00000572705.1_Missense_Mutation_p.T92P|TRPV1_ENST00000174621.6_Silent_p.P66P|TRPV1_ENST00000576351.1_Missense_Mutation_p.T92P|TRPV1_ENST00000310522.5_Missense_Mutation_p.T92P	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	92					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)	p.T92P(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CTGGCACCGGTGGGGCCGTCT	0.637																																					Melanoma(38;962 1762 15789)	uc010vrr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(274-276)ACC>CCC		transient receptor potential cation channel,	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						23.0	27.0	26.0					17																	3495371		2008	4172	6180	SO:0001583	missense	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3495371T>G	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.274A>C	17.37:g.3495371T>G	ENSP00000461007:p.Thr92Pro					TRPV1_uc010vro.1_Missense_Mutation_p.T92P|TRPV1_uc010vrp.1_Missense_Mutation_p.T92P|TRPV1_uc010vrq.1_Silent_p.P66P|TRPV1_uc010vrs.1_Missense_Mutation_p.T92P|TRPV1_uc010vrt.1_Missense_Mutation_p.T92P|TRPV1_uc010vru.1_Missense_Mutation_p.T92P	p.T92P	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	1	801	-			92			Cytoplasmic (Potential).		A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	c.274A>C	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	T	8.253	0.809470	0.16537	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000425167;ENST00000310522	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	4.75	-1.0	0.10196	.	1.420700	0.04212	N	0.331921	T	0.26159	0.0638	L	0.51422	1.61	0.49582	D	0.999808	B;P;B	0.37176	0.0;0.586;0.393	B;B;B	0.31245	0.001;0.126;0.063	T	0.18272	-1.0342	9	.	.	.	-8.4835	8.8288	0.35072	0.0:0.5365:0.0:0.4635	.	92;92;92	Q8NER1;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.	P	92	ENSP00000382661:T92P;ENSP00000382659:T92P;ENSP00000409627:T92P;ENSP00000311692:T92P	.	T	-	1	0	TRPV1	3442120	0.000000	0.05858	0.483000	0.27378	0.400000	0.30750	-1.403000	0.02497	-0.189000	0.10482	-0.270000	0.10280	ACC		PASS	0.637	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		15	25	15	25	---	---	---	---
C17orf85	55421	broad.mit.edu	37	17	3724582	3724582	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:3724582C>A	ENST00000389005.4	-	9	988	c.961G>T	c.(961-963)Gat>Tat	p.D321Y	C17orf85_ENST00000158149.3_Missense_Mutation_p.D41Y|C17orf85_ENST00000577169.1_5'Flank	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	321							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D321Y(1)|p.D41Y(1)		endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		CCAACGTCATCCCCAATCAGG	0.443																																						uc010ckl.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(961-963)GAT>TAT		ELG protein isoform a							173.0	138.0	150.0					17																	3724582		2203	4300	6503	SO:0001583	missense	55421						nucleotide binding	g.chr17:3724582C>A		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.961G>T	17.37:g.3724582C>A	ENSP00000373657:p.Asp321Tyr					C17orf85_uc002fwr.2_Missense_Mutation_p.D31Y|C17orf85_uc002fwq.2_Missense_Mutation_p.D41Y	p.D321Y	NM_001114118	NP_001107590	Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	9	984	-			321					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	ENST00000389005.4	37	c.961G>T	CCDS45578.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874492	0.91664	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.75547	0.3864	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.76255	-0.3026	9	0.87932	D	0	-21.9792	17.7518	0.88436	0.0:1.0:0.0:0.0	.	321	Q53F19	CQ085_HUMAN	Y	321;41	.	ENSP00000158149:D41Y	D	-	1	0	C17orf85	3671331	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.007000	0.76335	2.873000	0.98535	0.563000	0.77884	GAT		PASS	0.443	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		50	76	50	76	---	---	---	---
ATP2A3	489	broad.mit.edu	37	17	3846764	3846764	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:3846764C>A	ENST00000352011.3	-	11	1394	c.1340G>T	c.(1339-1341)tGc>tTc	p.C447F	ATP2A3_ENST00000397041.3_Missense_Mutation_p.C447F|ATP2A3_ENST00000359983.3_Missense_Mutation_p.C447F|ATP2A3_ENST00000397043.3_Missense_Mutation_p.C447F|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Missense_Mutation_p.C447F|ATP2A3_ENST00000309890.7_Missense_Mutation_p.C447F			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	447					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.C447F(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CTCCACCAGGCAAGTCAGAGC	0.642																																					GBM(32;29 774 15719 37967)	uc002fxb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)	5						c.(1339-1341)TGC>TTC		ATPase, Ca++ transporting, ubiquitous isoform b							167.0	149.0	155.0					17																	3846764		2203	4300	6503	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3846764C>A		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1340G>T	17.37:g.3846764C>A	ENSP00000301387:p.Cys447Phe					ATP2A3_uc002fwx.1_Missense_Mutation_p.C447F|ATP2A3_uc002fwy.1_Missense_Mutation_p.C447F|ATP2A3_uc002fwz.1_Missense_Mutation_p.C447F|ATP2A3_uc002fxa.1_Missense_Mutation_p.C447F|ATP2A3_uc002fxc.1_Missense_Mutation_p.C447F|ATP2A3_uc002fxd.1_Missense_Mutation_p.C447F	p.C447F	NM_174955	NP_777615	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	11	1491	-			447			Cytoplasmic (By similarity).		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.1340G>T	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511164	0.44660	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	3.9	3.9	0.45041	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.485095	0.22816	N	0.055286	T	0.75148	0.3810	N	0.16790	0.44	0.52501	D	0.999954	D;B;B;B;B;B	0.53151	0.958;0.049;0.06;0.049;0.049;0.049	P;B;B;B;B;B	0.44990	0.466;0.026;0.063;0.037;0.037;0.037	T	0.81118	-0.1078	10	0.87932	D	0	.	16.1481	0.81586	0.0:1.0:0.0:0.0	.	447;447;447;447;447;447	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	F	447	ENSP00000380236:C447F;ENSP00000301387:C447F;ENSP00000353072:C447F;ENSP00000380234:C447F;ENSP00000312577:C447F;ENSP00000380229:C447F	ENSP00000312577:C447F	C	-	2	0	ATP2A3	3793513	1.000000	0.71417	0.996000	0.52242	0.850000	0.48378	3.203000	0.51075	2.455000	0.83008	0.467000	0.42956	TGC		PASS	0.642	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		99	148	99	148	---	---	---	---
ZZEF1	23140	broad.mit.edu	37	17	3981258	3981258	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:3981258T>A	ENST00000381638.2	-	19	3032	c.2908A>T	c.(2908-2910)Agc>Tgc	p.S970C	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	970							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.S970C(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GATAGCAGGCTGCCTTGGACG	0.527																																						uc002fxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2908-2910)AGC>TGC		zinc finger, ZZ type with EF hand domain 1							83.0	76.0	78.0					17																	3981258		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3981258T>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2908A>T	17.37:g.3981258T>A	ENSP00000371051:p.Ser970Cys					ZZEF1_uc002fxk.1_Missense_Mutation_p.S971C	p.S970C	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			19	2972	-			970					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.2908A>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	34	5.292542	0.95546	.	.	ENSG00000074755	ENST00000381638	T	0.27402	1.67	5.98	5.98	0.97165	.	0.039065	0.85682	D	0.000000	T	0.46210	0.1381	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.974;0.982	T	0.44314	-0.9336	10	0.87932	D	0	-16.6679	16.4578	0.84025	0.0:0.0:0.0:1.0	.	971;970	O43149-3;O43149	.;ZZEF1_HUMAN	C	970	ENSP00000371051:S970C	ENSP00000371051:S970C	S	-	1	0	ZZEF1	3928007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.480000	0.81109	2.288000	0.76882	0.482000	0.46254	AGC		PASS	0.527	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		49	70	49	70	---	---	---	---
MYBBP1A	10514	broad.mit.edu	37	17	4445961	4445961	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:4445961T>A	ENST00000254718.4	-	21	3274	c.2968A>T	c.(2968-2970)Aac>Tac	p.N990Y	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.N990Y			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	990					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)	p.N990Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AGGGGGCTGTTGCGCTTGGTC	0.642																																						uc002fyb.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2968-2970)AAC>TAC		MYB binding protein 1a isoform 2							149.0	138.0	142.0					17																	4445961		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4445961T>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.2968A>T	17.37:g.4445961T>A	ENSP00000254718:p.Asn990Tyr					MYBBP1A_uc002fxz.3_Missense_Mutation_p.N990Y|MYBBP1A_uc002fya.3_5'Flank|MYBBP1A_uc010vsa.1_Missense_Mutation_p.N32Y	p.N990Y	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN			21	3030	-			990					Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.2968A>T	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	T	18.43	3.621320	0.66787	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.67698	-0.28;-0.28	5.7	3.35	0.38373	Armadillo-type fold (1);	0.187334	0.56097	D	0.000028	T	0.76263	0.3963	M	0.65975	2.015	0.36851	D	0.887893	D;D	0.71674	0.997;0.998	P;D	0.67725	0.898;0.953	T	0.80355	-0.1417	10	0.72032	D	0.01	-52.4817	9.5767	0.39461	0.0:0.0:0.344:0.656	.	990;990	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	Y	990	ENSP00000370968:N990Y;ENSP00000254718:N990Y	ENSP00000254718:N990Y	N	-	1	0	MYBBP1A	4392710	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	2.654000	0.46699	0.979000	0.38497	-0.291000	0.09656	AAC		PASS	0.642	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		53	71	53	71	---	---	---	---
ZNF594	84622	broad.mit.edu	37	17	5087060	5087060	+	Silent	SNP	A	A	G	rs534318452		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:5087060A>G	ENST00000399604.4	-	1	632	c.492T>C	c.(490-492)tcT>tcC	p.S164S	ZNF594_ENST00000575779.1_Silent_p.S164S			Q96JF6	ZN594_HUMAN	zinc finger protein 594	164					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.S164S(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AACTTTGATTAGAGTCTTTCC	0.333													A|||	1	0.000199681	0.0	0.0	5008	,	,		20712	0.0		0.0	False		,,,				2504	0.001					uc010cla.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(490-492)TCT>TCC		zinc finger protein 594							83.0	86.0	85.0					17																	5087060		1998	4199	6197	SO:0001819	synonymous_variant	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5087060A>G	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.492T>C	17.37:g.5087060A>G							p.S164S	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	648	-			164			C2H2-type 2.		Q6RFS0	Silent	SNP	ENST00000399604.4	37	c.492T>C	CCDS42241.1																																																																																				PASS	0.333	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		22	152	22	152	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACTATGTCGAAAAGTGTTT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM951226	TP53	M		c.(637-639)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							132.0	118.0	123.0					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578212G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174*	p.R213*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	831	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		PASS	0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		30	42	30	42	---	---	---	---
PER1	5187	broad.mit.edu	37	17	8045131	8045131	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:8045131C>G	ENST00000317276.4	-	22	3829	c.3592G>C	c.(3592-3594)Gat>Cat	p.D1198H	PER1_ENST00000581082.1_Missense_Mutation_p.D1175H|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1198	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.D1198H(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCATCACATCAAGAGCCCGA	0.547			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														uc002gkd.2				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		AML|CMML		1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						c.(3592-3594)GAT>CAT	Other_conserved_DNA_damage_response_genes	period 1							75.0	86.0	82.0					17																	8045131		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8045131C>G	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3592G>C	17.37:g.8045131C>G	ENSP00000314420:p.Asp1198His					PER1_uc010cns.2_Missense_Mutation_p.D72H|PER1_uc010vuq.1_RNA	p.D1198H	NM_002616	NP_002607	O15534	PER1_HUMAN			22	3830	-			1198			CRY binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.3592G>C	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163085	0.78226	.	.	ENSG00000179094	ENST00000317276	T	0.15256	2.44	5.67	5.67	0.87782	Period circadian-like, C-terminal (1);	0.052515	0.85682	D	0.000000	T	0.37705	0.1013	L	0.49571	1.57	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.979	T	0.01863	-1.1258	10	0.54805	T	0.06	-16.7429	17.2644	0.87081	0.0:1.0:0.0:0.0	.	1189;1198	A2I2P6;O15534	.;PER1_HUMAN	H	1198	ENSP00000314420:D1198H	ENSP00000314420:D1198H	D	-	1	0	PER1	7985856	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	3.366000	0.52343	2.697000	0.92050	0.655000	0.94253	GAT		PASS	0.547	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			16	218	16	218	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10295205	10295205	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:10295205C>A	ENST00000403437.2	-	39	5752	c.5658G>T	c.(5656-5658)gaG>gaT	p.E1886D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1886					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.E1886D(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTACAGCCTCCTCAGCTTGTC	0.398									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(5656-5658)GAG>GAT		myosin, heavy chain 8, skeletal muscle,							178.0	168.0	172.0					17																	10295205		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10295205C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5658G>T	17.37:g.10295205C>A	ENSP00000384330:p.Glu1886Asp					uc002gml.1_Intron	p.E1886D	NM_002472	NP_002463	P13535	MYH8_HUMAN			39	5753	-			1886			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5658G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991531	0.74703	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.81415	-1.49	4.97	1.88	0.25563	Myosin tail (1);	0.000000	0.41938	U	0.000786	D	0.86360	0.5914	M	0.74258	2.255	0.42398	D	0.992556	P	0.49090	0.919	D	0.63381	0.914	D	0.86154	0.1589	10	0.72032	D	0.01	.	9.9048	0.41370	0.0:0.7772:0.0:0.2228	.	1886	P13535	MYH8_HUMAN	D	1886	ENSP00000384330:E1886D	ENSP00000252173:E1886D	E	-	3	2	MYH8	10235930	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.774000	0.26675	0.694000	0.31654	0.650000	0.86243	GAG		PASS	0.398	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		17	270	17	270	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10312884	10312884	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:10312884G>A	ENST00000403437.2	-	16	1703	c.1609C>T	c.(1609-1611)Ctg>Ttg	p.L537L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	537	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.L537L(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCTCTTCCAGGATGGAGAAG	0.473									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - coding silent(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(1609-1611)CTG>TTG		myosin, heavy chain 8, skeletal muscle,							85.0	85.0	85.0					17																	10312884		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10312884G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1609C>T	17.37:g.10312884G>A						uc002gml.1_Intron	p.L537L	NM_002472	NP_002463	P13535	MYH8_HUMAN			16	1704	-			537			Myosin head-like.		Q14910	Silent	SNP	ENST00000403437.2	37	c.1609C>T	CCDS11153.1																																																																																				PASS	0.473	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		18	98	18	98	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10315812	10315812	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:10315812C>A	ENST00000403437.2	-	14	1385	c.1291G>T	c.(1291-1293)Gcc>Tcc	p.A431S	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	431	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.A431S(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACGGCTTTGGCCAGAGCACCC	0.502									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(1291-1293)GCC>TCC		myosin, heavy chain 8, skeletal muscle,							302.0	270.0	281.0					17																	10315812		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10315812C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1291G>T	17.37:g.10315812C>A	ENSP00000384330:p.Ala431Ser					uc002gml.1_Intron	p.A431S	NM_002472	NP_002463	P13535	MYH8_HUMAN			14	1386	-			431			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.1291G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892222	0.33442	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.80214	-1.35	4.6	4.6	0.57074	Myosin head, motor domain (2);	0.000000	0.41396	U	0.000887	T	0.74650	0.3744	L	0.39397	1.21	0.37522	D	0.917599	B	0.06786	0.001	B	0.23419	0.046	T	0.71241	-0.4651	10	0.19147	T	0.46	.	17.6116	0.88055	0.0:1.0:0.0:0.0	.	431	P13535	MYH8_HUMAN	S	431	ENSP00000384330:A431S	ENSP00000252173:A431S	A	-	1	0	MYH8	10256537	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	2.535000	0.45685	2.391000	0.81399	0.650000	0.86243	GCC		PASS	0.502	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		157	293	157	293	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10411765	10411765	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:10411765C>T	ENST00000226207.5	-	16	1906	c.1812G>A	c.(1810-1812)ctG>ctA	p.L604L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	604	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L604L(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGTCTCATTCAGGGGGTCCT	0.522																																						uc002gmo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(1810-1812)CTG>CTA		myosin, heavy chain 1, skeletal muscle, adult							74.0	72.0	73.0					17																	10411765		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10411765C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1812G>A	17.37:g.10411765C>T						uc002gml.1_Intron	p.L604L	NM_005963	NP_005954	P12882	MYH1_HUMAN			16	1906	-			604			Myosin head-like.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.1812G>A	CCDS11155.1																																																																																				PASS	0.522	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		42	64	42	64	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10440603	10440603	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:10440603G>C	ENST00000245503.5	-	16	2228	c.1844C>G	c.(1843-1845)tCt>tGt	p.S615C	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.S615C|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.S615C|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	615	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.S615C(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTCATTGCAGACTTCTGGTA	0.448																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(1843-1845)TCT>TGT		myosin heavy chain IIa							152.0	158.0	156.0					17																	10440603		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10440603G>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1844C>G	17.37:g.10440603G>C	ENSP00000245503:p.Ser615Cys					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.S615C|MYH2_uc010coj.2_Missense_Mutation_p.S615C	p.S615C	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			16	1972	-			615			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.1844C>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269142	0.59540	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.90732	-2.72;-2.72;-2.72	5.53	5.53	0.82687	Myosin head, motor domain (2);	0.000000	0.38217	U	0.001768	D	0.96364	0.8814	M	0.91612	3.225	0.58432	D	0.999998	D;B	0.76494	0.999;0.001	D;B	0.72625	0.978;0.034	D	0.96735	0.9542	10	0.62326	D	0.03	.	18.4517	0.90705	0.0:0.0:1.0:0.0	.	615;615	Q567P6;Q9UKX2	.;MYH2_HUMAN	C	615	ENSP00000433944:S615C;ENSP00000245503:S615C;ENSP00000380367:S615C	ENSP00000245503:S615C	S	-	2	0	MYH2	10381328	1.000000	0.71417	0.998000	0.56505	0.814000	0.46013	7.892000	0.87324	2.611000	0.88343	0.650000	0.86243	TCT		PASS	0.448	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		41	289	41	289	---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10537469	10537469	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:10537469C>T	ENST00000583535.1	-	32	4474	c.4387G>A	c.(4387-4389)Gag>Aag	p.E1463K	MYH3_ENST00000226209.7_Missense_Mutation_p.E1463K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1463					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.E1463K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCTTGGCTCTCCTCACACTTT	0.483																																						uc002gmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(4387-4389)GAG>AAG		myosin, heavy chain 3, skeletal muscle,							100.0	100.0	100.0					17																	10537469		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10537469C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4387G>A	17.37:g.10537469C>T	ENSP00000464317:p.Glu1463Lys						p.E1463K	NM_002470	NP_002461	P11055	MYH3_HUMAN			31	4464	-			1463			Potential.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.4387G>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	36	5.975589	0.97162	.	.	ENSG00000109063	ENST00000226209	D	0.85861	-2.04	5.31	5.31	0.75309	Myosin tail (1);	.	.	.	.	D	0.93122	0.7810	M	0.87328	2.875	0.53005	D	0.999964	D	0.60575	0.988	D	0.64410	0.925	D	0.93690	0.7006	9	0.62326	D	0.03	.	19.3282	0.94273	0.0:1.0:0.0:0.0	.	1463	P11055	MYH3_HUMAN	K	1463	ENSP00000226209:E1463K	ENSP00000226209:E1463K	E	-	1	0	MYH3	10478194	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.623000	0.88846	0.655000	0.94253	GAG		PASS	0.483	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		7	173	7	173	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11572751	11572751	+	Missense_Mutation	SNP	G	G	C	rs372060307		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:11572751G>C	ENST00000262442.4	+	17	3061	c.2993G>C	c.(2992-2994)aGa>aCa	p.R998T	DNAH9_ENST00000454412.2_Missense_Mutation_p.R998T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	998	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R998T(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAGTCCAGAGAATGATGGGC	0.552																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(2992-2994)AGA>ACA		dynein, axonemal, heavy chain 9 isoform 2							66.0	61.0	63.0					17																	11572751		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11572751G>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2993G>C	17.37:g.11572751G>C	ENSP00000262442:p.Arg998Thr					DNAH9_uc010coo.2_Missense_Mutation_p.R292T	p.R998T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	17	3061	+		Breast(5;0.0122)|all_epithelial(5;0.131)	998			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2993G>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.584288	0.00872	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.25579	1.83;1.79	4.8	-4.26	0.03755	.	1.288310	0.04857	N	0.443416	T	0.07728	0.0194	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34825	-0.9813	10	0.11182	T	0.66	.	8.2217	0.31545	0.4124:0.4208:0.1669:0.0	.	998	Q9NYC9	DYH9_HUMAN	T	998	ENSP00000262442:R998T;ENSP00000414874:R998T	ENSP00000262442:R998T	R	+	2	0	DNAH9	11513476	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.176000	0.09811	-0.646000	0.05452	-0.165000	0.13383	AGA		PASS	0.552	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		29	40	29	40	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11631152	11631152	+	Nonsense_Mutation	SNP	C	C	A	rs551346186		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:11631152C>A	ENST00000262442.4	+	28	5795	c.5727C>A	c.(5725-5727)taC>taA	p.Y1909*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.Y1909*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1909	AAA 1. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.Y1909*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCAACATCTACAAAGGCCTTG	0.473																																						uc002gne.2																			1	Substitution - Nonsense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(5725-5727)TAC>TAA		dynein, axonemal, heavy chain 9 isoform 2							142.0	124.0	130.0					17																	11631152		2203	4300	6503	SO:0001587	stop_gained	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11631152C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5727C>A	17.37:g.11631152C>A	ENSP00000262442:p.Tyr1909*					DNAH9_uc010coo.2_Nonsense_Mutation_p.Y1203*	p.Y1909*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	28	5795	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1909			AAA 1 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	ENST00000262442.4	37	c.5727C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	45	12.031077	0.99629	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	.	.	.	4.87	2.88	0.33553	.	0.165361	0.41712	D	0.000827	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5781	0.33612	0.0:0.7633:0.0:0.2367	.	.	.	.	X	1909;1909;491	.	ENSP00000262442:Y1909X	Y	+	3	2	DNAH9	11571877	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.191000	0.42640	0.591000	0.29711	0.655000	0.94253	TAC		PASS	0.473	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		38	42	38	42	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	16068381	16068381	+	Nonsense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:16068381G>C	ENST00000268712.3	-	5	787	c.530C>G	c.(529-531)tCa>tGa	p.S177*	NCOR1_ENST00000395848.1_Nonsense_Mutation_p.S68*|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.S177*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	177	Interaction with ZBTB33 and HEXIM1.				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.S177*(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)		CTCTTCCTTTGAGAGTTTTGA	0.398																																						uc002gpo.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(529-531)TCA>TGA		nuclear receptor co-repressor 1							92.0	87.0	89.0					17																	16068381		2203	4300	6503	SO:0001587	stop_gained	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.chr17:16068381G>C	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.530C>G	17.37:g.16068381G>C	ENSP00000268712:p.Ser177*					NCOR1_uc002gpn.2_Nonsense_Mutation_p.S177*|NCOR1_uc002gpp.1_Nonsense_Mutation_p.S68*|NCOR1_uc002gpr.2_Nonsense_Mutation_p.S68*|NCOR1_uc002gps.1_Nonsense_Mutation_p.S177*|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Nonsense_Mutation_p.S177*|NCOR1_uc010cpa.1_Nonsense_Mutation_p.S177*|NCOR1_uc002gpu.2_Nonsense_Mutation_p.S177*	p.S177*	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	5	770	-			177			Potential.|Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Nonsense_Mutation	SNP	ENST00000268712.3	37	c.530C>G	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	36	5.660089	0.96734	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	.	.	.	5.04	5.04	0.67666	.	0.114953	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.3546	17.4183	0.87507	0.0:0.0:1.0:0.0	.	.	.	.	X	177;177;68;177;68;177;177	.	ENSP00000268712:S177X	S	-	2	0	NCOR1	16009106	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.832000	0.99423	2.349000	0.79799	0.478000	0.44815	TCA		PASS	0.398	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		6	187	6	187	---	---	---	---
MIEF2	125170	broad.mit.edu	37	17	18167409	18167409	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:18167409C>A	ENST00000323019.4	+	4	907	c.696C>A	c.(694-696)ttC>ttA	p.F232L	MIEF2_ENST00000395706.2_Missense_Mutation_p.F243L|MIEF2_ENST00000577216.1_3'UTR|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	232					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.F232L(1)									AGCTTGAGTTCTGCCCCCGTG	0.711																																						uc002gst.2																			1	Substitution - Missense(1)		lung(1)		0						c.(694-696)TTC>TTA		Smith-Magenis syndrome chromosome region,							8.0	7.0	7.0					17																	18167409		2136	4215	6351	SO:0001583	missense	125170					integral to membrane	protein binding	g.chr17:18167409C>A	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.696C>A	17.37:g.18167409C>A	ENSP00000323591:p.Phe232Leu					SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Missense_Mutation_p.F243L	p.F232L	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN			4	907	+	all_neural(463;0.228)		232					J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	ENST00000323019.4	37	c.696C>A	CCDS11193.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664083	0.29604	.	.	ENSG00000177427	ENST00000323019;ENST00000395706	T;T	0.14266	2.53;2.52	5.32	3.3	0.37823	.	0.110345	0.64402	D	0.000005	T	0.11495	0.0280	L	0.54323	1.7	0.31282	N	0.690469	P	0.49090	0.919	B	0.34418	0.182	T	0.11717	-1.0576	10	0.66056	D	0.02	-33.611	10.2519	0.43375	0.0:0.7668:0.0:0.2332	.	232	Q96C03	MID49_HUMAN	L	232;243	ENSP00000323591:F232L;ENSP00000379057:F243L	ENSP00000323591:F232L	F	+	3	2	SMCR7	18108134	0.945000	0.32115	0.577000	0.28562	0.037000	0.13140	1.968000	0.40500	0.606000	0.29965	0.563000	0.77884	TTC		PASS	0.711	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		5	6	5	6	---	---	---	---
MIEF2	125170	broad.mit.edu	37	17	18167821	18167821	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:18167821C>T	ENST00000323019.4	+	4	1319	c.1108C>T	c.(1108-1110)Ctg>Ttg	p.L370L	MIEF2_ENST00000395706.2_Silent_p.L381L|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	370					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.L370L(1)									TTGCTCGGCTCTGGGGCAGCT	0.677																																						uc002gst.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1108-1110)CTG>TTG		Smith-Magenis syndrome chromosome region,							43.0	47.0	46.0					17																	18167821		2203	4299	6502	SO:0001819	synonymous_variant	125170					integral to membrane	protein binding	g.chr17:18167821C>T	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.1108C>T	17.37:g.18167821C>T						SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Silent_p.L381L	p.L370L	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN			4	1319	+	all_neural(463;0.228)		370					J3KPT3|Q6ZRD4|Q96N07	Silent	SNP	ENST00000323019.4	37	c.1108C>T	CCDS11193.1																																																																																				PASS	0.677	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		40	57	40	57	---	---	---	---
CCDC144CP	348254	broad.mit.edu	37	17	18525829	18525829	+	IGR	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:18525829G>C								CCDC144B (16125 upstream) : TBC1D28 (12489 downstream)																							GTTATTTTGAGGAAGACTTTC	0.299																																						uc002gub.1																			0				ovary(1)|skin(1)	2						c.(397-399)CCT>CGT		coiled-coil domain containing 144B							14.0	13.0	13.0					17																	18525829		2045	4148	6193	SO:0001628	intergenic_variant	284047							g.chr17:18525829G>C																													17.37:g.18525829G>C						CCDC144B_uc002gua.3_RNA|CCDC144B_uc010vyc.1_RNA|CCDC144B_uc002guc.1_Missense_Mutation_p.P133R	p.P133R	NM_182568	NP_872374					2	483	-									Missense_Mutation	SNP		37	c.398C>G																																																																																				0	PASS	0.299									23	101	23	101	---	---	---	---
EPN2	22905	broad.mit.edu	37	17	19232925	19232925	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:19232925C>T	ENST00000314728.5	+	9	1860	c.1376C>T	c.(1375-1377)tCt>tTt	p.S459F	EPN2_ENST00000395620.2_Missense_Mutation_p.S402F|EPN2_ENST00000347697.2_Missense_Mutation_p.S402F|EPN2_ENST00000571254.1_Missense_Mutation_p.S395F|EPN2_ENST00000395618.3_Missense_Mutation_p.S174F|EPN2_ENST00000395626.1_Missense_Mutation_p.S459F|EPN2_ENST00000575595.1_Missense_Mutation_p.S167F	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	459	6 X 3 AA repeats of [DE]-P-W.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)	p.S459F(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GATGACTTTTCTGAATTTGAC	0.428																																						uc002gvd.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1375-1377)TCT>TTT		epsin 2 isoform b							132.0	132.0	132.0					17																	19232925		2203	4300	6503	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19232925C>T	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.1376C>T	17.37:g.19232925C>T	ENSP00000320543:p.Ser459Phe					EPN2_uc010cql.1_Missense_Mutation_p.S168F|EPN2_uc002gve.3_Missense_Mutation_p.S402F|EPN2_uc002gvf.3_Missense_Mutation_p.S174F|EPN2_uc010vyo.1_Missense_Mutation_p.S167F|EPN2_uc010vyp.1_Missense_Mutation_p.S395F|EPN2_uc010vyq.1_Missense_Mutation_p.S396F|EPN2_uc002gvh.1_Missense_Mutation_p.S459F|EPN2_uc002gvj.3_Missense_Mutation_p.S122F	p.S459F	NM_014964	NP_055779	O95208	EPN2_HUMAN			9	1824	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		459			6 X 3 AA repeats of [DE]-P-W.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.1376C>T	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919485	0.73098	.	.	ENSG00000072134	ENST00000347697;ENST00000395618;ENST00000314728;ENST00000395628;ENST00000395620;ENST00000395626	T;T;T;T;T;T	0.39787	1.92;1.92;1.92;1.09;1.92;1.06	5.31	5.31	0.75309	.	0.334930	0.30134	N	0.010326	T	0.69351	0.3101	M	0.83012	2.62	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999;0.999;0.999	D;D;D;D;D;D;D	0.97110	0.996;0.979;1.0;1.0;0.979;0.996;0.979	T	0.73792	-0.3871	10	0.66056	D	0.02	-9.1848	18.9661	0.92697	0.0:1.0:0.0:0.0	.	402;395;167;174;459;402;459	Q52LD0;B7ZKM5;B7Z3A5;A8MTV8;E9PBC1;E9PBC2;O95208	.;.;.;.;.;.;EPN2_HUMAN	F	402;174;459;402;402;459	ENSP00000261495:S402F;ENSP00000378980:S174F;ENSP00000320543:S459F;ENSP00000378990:S402F;ENSP00000378982:S402F;ENSP00000378988:S459F	ENSP00000320543:S459F	S	+	2	0	EPN2	19173518	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.290000	0.78711	2.468000	0.83385	0.561000	0.74099	TCT		PASS	0.428	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		13	335	13	335	---	---	---	---
AKAP10	11216	broad.mit.edu	37	17	19861529	19861529	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:19861529C>G	ENST00000225737.6	-	4	832	c.675G>C	c.(673-675)ctG>ctC	p.L225L	AKAP10_ENST00000572155.1_5'Flank|AKAP10_ENST00000395536.3_Silent_p.L225L	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	225	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)		p.L225L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TTCTATTATTCAGGTCAATTC	0.428																																						uc002gwo.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(673-675)CTG>CTC		A-kinase anchor protein 10 precursor							96.0	93.0	94.0					17																	19861529		2203	4300	6503	SO:0001819	synonymous_variant	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19861529C>G	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.675G>C	17.37:g.19861529C>G						AKAP10_uc002gwp.1_Silent_p.L225L|AKAP10_uc010cqw.1_Silent_p.L225L|AKAP10_uc010vze.1_Silent_p.L146L	p.L225L	NM_007202	NP_009133	O43572	AKA10_HUMAN			4	812	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		225			RGS 1.		B2R650|Q96AJ7	Silent	SNP	ENST00000225737.6	37	c.675G>C	CCDS11214.1																																																																																				PASS	0.428	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		5	196	5	196	---	---	---	---
PIGS	94005	broad.mit.edu	37	17	26881331	26881331	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:26881331G>A	ENST00000308360.7	-	12	1950	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	UNC119_ENST00000301032.4_5'Flank|UNC119_ENST00000335765.4_5'Flank|UNC119_ENST00000484980.1_5'Flank|PIGS_ENST00000395346.2_Silent_p.L517L|PIGS_ENST00000543734.1_Silent_p.L464L	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	525					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.L525L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TAGGCAGGAAGAGTGGGATGT	0.542																																						uc002hbo.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|urinary_tract(1)|kidney(1)	4						c.(1573-1575)CTC>CTT		phosphatidylinositol glycan anchor biosynthesis,							145.0	138.0	141.0					17																	26881331		2203	4300	6503	SO:0001819	synonymous_variant	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26881331G>A		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.1575C>T	17.37:g.26881331G>A						UNC119_uc002hbk.2_5'Flank|UNC119_uc002hbm.2_5'Flank|PIGS_uc002hbn.2_Silent_p.L517L|PIGS_uc010wap.1_Silent_p.L464L	p.L525L	NM_033198	NP_149975	Q96S52	PIGS_HUMAN			12	1948	-	Lung NSC(42;0.00431)		525			Helical; (Potential).		Q6UVX6	Silent	SNP	ENST00000308360.7	37	c.1575C>T	CCDS11235.1																																																																																				PASS	0.542	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		11	213	11	213	---	---	---	---
GIT1	28964	broad.mit.edu	37	17	27901841	27901841	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:27901841G>T	ENST00000225394.3	-	20	2413	c.2165C>A	c.(2164-2166)cCa>cAa	p.P722Q	GIT1_ENST00000579937.1_3'UTR|GIT1_ENST00000394869.3_Missense_Mutation_p.P731Q|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000581348.1_Missense_Mutation_p.P708Q	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	722	Interaction with PXN and TGFB1I1. {ECO:0000250}.				regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.P722Q(1)|p.P731Q(1)		large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GCCGGGCTCTGGGGGCACTGT	0.667																																					Colon(81;41 1719 20078 35068)	uc002hef.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2164-2166)CCA>CAA		G protein-coupled receptor kinase interactor 1							34.0	29.0	31.0					17																	27901841		2203	4299	6502	SO:0001583	missense	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27901841G>T	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.2165C>A	17.37:g.27901841G>T	ENSP00000225394:p.Pro722Gln					GIT1_uc002heg.2_Missense_Mutation_p.P731Q|GIT1_uc010wbg.1_Missense_Mutation_p.P708Q|GIT1_uc010csb.1_3'UTR	p.P722Q	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	20	2379	-			722			Interaction with PXN and TGFB1I1 (By similarity).		B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	c.2165C>A	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	G	9.269	1.045220	0.19748	.	.	ENSG00000108262	ENST00000225394;ENST00000394869	T;T	0.69806	-0.37;-0.43	4.44	4.44	0.53790	G protein-coupled receptor kinase-interacting protein 1 C term (1);	0.214881	0.39210	N	0.001422	T	0.54078	0.1836	L	0.29908	0.895	0.80722	D	1	B;B;B	0.13594	0.008;0.004;0.004	B;B;B	0.17098	0.017;0.017;0.017	T	0.49652	-0.8917	10	0.12430	T	0.62	.	17.2379	0.87005	0.0:0.0:1.0:0.0	.	735;731;722	Q59FC3;B4DGU9;Q9Y2X7	.;.;GIT1_HUMAN	Q	722;731	ENSP00000225394:P722Q;ENSP00000378338:P731Q	ENSP00000225394:P722Q	P	-	2	0	GIT1	24925967	0.995000	0.38212	0.640000	0.29408	0.753000	0.42808	3.269000	0.51592	2.457000	0.83068	0.655000	0.94253	CCA		PASS	0.667	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		7	23	7	23	---	---	---	---
ANKRD13B	124930	broad.mit.edu	37	17	27936431	27936431	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:27936431G>A	ENST00000394859.3	+	7	968	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	272						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.E272K(1)		cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						GAATGGGTATGAAGCTAAGGT	0.607																																						uc002hei.2																			1	Substitution - Missense(1)		lung(1)		0						c.(814-816)GAA>AAA		ankyrin repeat domain 13B							50.0	39.0	43.0					17																	27936431		2203	4300	6503	SO:0001583	missense	124930							g.chr17:27936431G>A	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.814G>A	17.37:g.27936431G>A	ENSP00000378328:p.Glu272Lys					ANKRD13B_uc002heh.2_Missense_Mutation_p.E140K|ANKRD13B_uc002hej.2_RNA	p.E272K	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN			7	927	+			272					Q8N7S9	Missense_Mutation	SNP	ENST00000394859.3	37	c.814G>A	CCDS11251.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901683	0.92035	.	.	ENSG00000198720	ENST00000394859	T	0.40476	1.03	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	M	0.68952	2.095	0.80722	D	1	D	0.56287	0.975	P	0.61722	0.893	T	0.60777	-0.7196	10	0.46703	T	0.11	-14.7053	18.9389	0.92597	0.0:0.0:1.0:0.0	.	272	Q86YJ7	AN13B_HUMAN	K	272	ENSP00000378328:E272K	ENSP00000378328:E272K	E	+	1	0	ANKRD13B	24960557	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	9.869000	0.99810	2.583000	0.87209	0.462000	0.41574	GAA		PASS	0.607	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345		6	52	6	52	---	---	---	---
CRLF3	51379	broad.mit.edu	37	17	29120551	29120551	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:29120551C>G	ENST00000324238.6	-	5	867	c.743G>C	c.(742-744)aGa>aCa	p.R248T	CTD-2349P21.9_ENST00000580085.1_lincRNA|CRLF3_ENST00000544695.1_Missense_Mutation_p.R132T|CRLF3_ENST00000577725.1_Intron	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	248	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)		p.R248T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				GGCGCAGACTCTGAACTGGTA	0.453																																					Pancreas(30;346 881 29244 33464 41299)	uc002hfr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(742-744)AGA>ACA		cytokine receptor-like factor 3							98.0	94.0	95.0					17																	29120551		2203	4300	6503	SO:0001583	missense	51379				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm		g.chr17:29120551C>G	AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.743G>C	17.37:g.29120551C>G	ENSP00000318804:p.Arg248Thr					CRLF3_uc010wbr.1_Missense_Mutation_p.R132T	p.R248T	NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN			5	852	-		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)	248			Fibronectin type-III.		A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP	ENST00000324238.6	37	c.743G>C	CCDS32607.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768667	0.90020	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	T;T	0.30182	1.54;1.54	5.64	5.64	0.86602	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.042779	0.85682	D	0.000000	T	0.52240	0.1722	M	0.62723	1.935	0.58432	D	0.999995	D	0.67145	0.996	P	0.59948	0.866	T	0.52200	-0.8607	10	0.72032	D	0.01	-13.7429	19.6827	0.95970	0.0:1.0:0.0:0.0	.	248	Q8IUI8	CRLF3_HUMAN	T	248;132	ENSP00000318804:R248T;ENSP00000444188:R132T	ENSP00000318804:R248T	R	-	2	0	CRLF3	26144677	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.679000	0.68160	2.663000	0.90544	0.591000	0.81541	AGA		PASS	0.453	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1			53	156	53	156	---	---	---	---
ATAD5	79915	broad.mit.edu	37	17	29185178	29185178	+	Splice_Site	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:29185178G>T	ENST00000321990.4	+	9	3171		c.e9-1		CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5						cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.?(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTTTATTGCAGTTCATGAGGA	0.308																																						uc002hfs.1																			1	Unknown(1)		lung(1)	ovary(3)	3						c.e9-1		ATPase family, AAA domain containing 5							72.0	71.0	71.0					17																	29185178		2203	4299	6502	SO:0001630	splice_region_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29185178G>T		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.2794-1G>T	17.37:g.29185178G>T						ATAD5_uc002hft.1_Splice_Site_p.F829_splice	p.F932_splice	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			9	3140	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)						Q05DH0|Q69YR6|Q9H9I1	Splice_Site	SNP	ENST00000321990.4	37	c.2794_splice	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497489	0.64186	.	.	ENSG00000176208	ENST00000321990	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.016	0.97477	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATAD5	26209304	1.000000	0.71417	0.968000	0.41197	0.708000	0.40852	6.366000	0.73095	2.823000	0.97156	0.591000	0.81541	.		PASS	0.308	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857	Intron	27	104	27	104	---	---	---	---
TEFM	79736	broad.mit.edu	37	17	29227467	29227467	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:29227467C>T	ENST00000581216.1	-	3	1230	c.609G>A	c.(607-609)atG>atA	p.M203I	TEFM_ENST00000579183.1_5'Flank|TEFM_ENST00000580840.1_Missense_Mutation_p.M203I	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	203					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)	p.M203I(1)									ATATTCCTCTCATTAAACTCC	0.438																																						uc002hfu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(607-609)ATG>ATA		hypothetical protein LOC79736							107.0	103.0	104.0					17																	29227467		1900	4129	6029	SO:0001583	missense	79736				oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding	g.chr17:29227467C>T		CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 42"""	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.609G>A	17.37:g.29227467C>T	ENSP00000462963:p.Met203Ile					C17orf42_uc002hfv.2_RNA|C17orf42_uc002hfw.2_Missense_Mutation_p.M203I	p.M203I	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN			3	679	-		all_cancers(10;4.64e-07)|all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)	203					E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Missense_Mutation	SNP	ENST00000581216.1	37	c.609G>A	CCDS42291.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354614	0.24512	.	.	ENSG00000172171	ENST00000306049	.	.	.	5.78	-0.26	0.12967	Ribonuclease H-like (1);	0.727258	0.13716	N	0.367740	T	0.39733	0.1089	M	0.69823	2.125	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.38178	-0.9673	9	0.49607	T	0.09	-7.6091	2.7296	0.05223	0.3049:0.4404:0.1138:0.1409	.	203	Q96QE5	TEFM_HUMAN	I	203	.	ENSP00000306574:M203I	M	-	3	0	C17orf42	26251593	0.996000	0.38824	0.000000	0.03702	0.002000	0.02628	0.657000	0.24963	-0.266000	0.09339	0.585000	0.79938	ATG		PASS	0.438	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444498.1	NM_024683		20	196	20	196	---	---	---	---
ADAP2	55803	broad.mit.edu	37	17	29261292	29261292	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:29261292C>T	ENST00000330889.3	+	5	822	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L	ADAP2_ENST00000580525.1_Silent_p.L169L	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	163	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.L163L(1)|p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGAAGGCCTCCTGAAGTACTT	0.488																																						uc002hfx.2																			2	Unknown(1)|Substitution - coding silent(1)	p.?(1)	lung(1)|central_nervous_system(1)	ovary(1)	1						c.(487-489)CTG>TTG		centaurin-alpha 2 protein							81.0	68.0	72.0					17																	29261292		2203	4300	6503	SO:0001819	synonymous_variant	55803				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	g.chr17:29261292C>T	AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16487	protein-coding gene	gene with protein product		608635	"""centaurin, alpha 2"""	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.487C>T	17.37:g.29261292C>T						ADAP2_uc010csk.2_Silent_p.L169L|ADAP2_uc002hfy.2_Silent_p.L163L|ADAP2_uc010csl.2_RNA	p.L163L	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN			5	766	+			163			PH 1.		Q8N4Q6|Q96SD5	Silent	SNP	ENST00000330889.3	37	c.487C>T	CCDS11261.1																																																																																				PASS	0.488	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404		25	58	25	58	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29587397	29587397	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:29587397G>C	ENST00000358273.4	+	34	4824	c.4441G>C	c.(4441-4443)Gat>Cat	p.D1481H	NF1_ENST00000356175.3_Missense_Mutation_p.D1460H	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1481					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.D1481H(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTTTTCCTTGATATAGCATC	0.343			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		14	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(2)	p.?(3)	soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(4441-4443)GAT>CAT		neurofibromin isoform 1							110.0	105.0	107.0					17																	29587397		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29587397G>C		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4441G>C	17.37:g.29587397G>C	ENSP00000351015:p.Asp1481His	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.D1460H|NF1_uc002hgi.1_Missense_Mutation_p.D493H	p.D1481H	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	34	4774	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1481					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.4441G>C	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917530	0.92249	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.82344	-1.6;-1.6;-1.6	5.88	5.88	0.94601	Rho GTPase activation protein (1);Armadillo-type fold (1);Ras GTPase-activating protein (2);	0.000000	0.85682	D	0.000000	D	0.85461	0.5702	N	0.14661	0.345	0.80722	D	1	P;D;P	0.89917	0.902;1.0;0.945	P;D;P	0.85130	0.547;0.997;0.763	D	0.87440	0.2394	10	0.66056	D	0.02	.	20.2371	0.98361	0.0:0.0:1.0:0.0	.	510;1460;1481	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	H	1481;1460;1126	ENSP00000351015:D1481H;ENSP00000348498:D1460H;ENSP00000389907:D1126H	ENSP00000348498:D1460H	D	+	1	0	NF1	26611523	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.196000	0.94978	2.788000	0.95919	0.555000	0.69702	GAT		PASS	0.343	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		12	284	12	284	---	---	---	---
RHBDL3	162494	broad.mit.edu	37	17	30611719	30611719	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:30611719C>T	ENST00000269051.4	+	3	191	c.177C>T	c.(175-177)ttC>ttT	p.F59F	RHBDL3_ENST00000538145.1_Silent_p.F51F|RHBDL3_ENST00000536287.1_Intron	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	59	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.F59F(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				CAGGCAAGTTCCGGAGTCTTC	0.592																																						uc002hhe.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(175-177)TTC>TTT		rhomboid protease 3							81.0	73.0	76.0					17																	30611719		2203	4300	6503	SO:0001819	synonymous_variant	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30611719C>T	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.177C>T	17.37:g.30611719C>T						RHBDL3_uc010csw.1_Silent_p.F51F|RHBDL3_uc010csx.1_Silent_p.F59F|RHBDL3_uc010csy.1_Intron|RHBDL3_uc002hhf.1_Intron	p.F59F	NM_138328	NP_612201	P58872	RHBL3_HUMAN			3	191	+		Breast(31;0.116)|Ovarian(249;0.182)	59			EF-hand 1.		A6NMH1|Q495Y4|Q495Y5|Q495Y6	Silent	SNP	ENST00000269051.4	37	c.177C>T	CCDS32613.1																																																																																				PASS	0.592	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		36	51	36	51	---	---	---	---
ASIC2	40	broad.mit.edu	37	17	31355356	31355356	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:31355356C>G	ENST00000359872.6	-	4	1650	c.889G>C	c.(889-891)Gac>Cac	p.D297H	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000225823.2_Missense_Mutation_p.D348H	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	297					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.D348H(1)|p.D297H(1)								Amiloride(DB00594)	GGAAAAAAGTCGAGGCCCATC	0.562																																						uc002hhu.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(889-891)GAC>CAC		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						62.0	60.0	60.0					17																	31355356		2203	4300	6503	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31355356C>G	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.889G>C	17.37:g.31355356C>G	ENSP00000352934:p.Asp297His					ACCN1_uc002hht.2_Missense_Mutation_p.D348H	p.D297H	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	4	1163	-		Breast(31;0.042)|Ovarian(249;0.202)	297			Extracellular (By similarity).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.889G>C	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796974	0.90453	.	.	ENSG00000108684	ENST00000225823;ENST00000359872;ENST00000448983	T;T	0.65732	-0.17;-0.17	5.56	5.56	0.83823	.	0.279994	0.39341	N	0.001395	T	0.80460	0.4627	M	0.80746	2.51	0.44282	D	0.997147	D;D	0.76494	0.999;0.961	D;P	0.74674	0.984;0.879	T	0.82483	-0.0435	10	0.56958	D	0.05	-27.2435	17.0263	0.86447	0.0:1.0:0.0:0.0	.	297;348	Q16515;E9PBX2	ACCN1_HUMAN;.	H	348;297;103	ENSP00000225823:D348H;ENSP00000352934:D297H	ENSP00000225823:D348H	D	-	1	0	ACCN1	28379469	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.436000	0.80404	1.334000	0.45468	0.591000	0.81541	GAC		PASS	0.562	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		7	85	7	85	---	---	---	---
CCL3	6348	broad.mit.edu	37	17	34416616	34416616	+	Missense_Mutation	SNP	C	C	G	rs190805628		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:34416616C>G	ENST00000225245.5	-	2	183	c.101G>C	c.(100-102)tGc>tCc	p.C34S	AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000441575.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	34					astrocyte cell migration (GO:0043615)|behavior (GO:0007610)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|eosinophil degranulation (GO:0043308)|exocytosis (GO:0006887)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoclast differentiation (GO:0045671)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell migration (GO:0030335)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of tumor necrosis factor production (GO:0032760)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|response to toxic substance (GO:0009636)|signaling (GO:0023052)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)	calcium-dependent protein kinase C activity (GO:0004698)|CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)	p.C34S(1)		breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTAGCTGAAGCAGCAGGCGGT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		18445	0.001		0.0	False		,,,				2504	0.0					uc002hkv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(100-102)TGC>TCC		chemokine (C-C motif) ligand 3							118.0	126.0	123.0					17																	34416616		2203	4298	6501	SO:0001583	missense	6348				cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity	g.chr17:34416616C>G	M23178	CCDS11307.1	17q12	2014-05-06	2002-08-22	2002-08-23	ENSG00000006075	ENSG00000277632		"""Chemokine ligands"", ""Endogenous ligands"""	10627	protein-coding gene	gene with protein product		182283	"""small inducible cytokine A3 (homologous to mouse Mip-1a)"""	SCYA3			Standard	NM_002983		Approved	G0S19-1, LD78ALPHA, MIP-1-alpha	uc002hkv.3	P10147	OTTHUMG00000188413	ENST00000225245.5:c.101G>C	17.37:g.34416616C>G	ENSP00000225245:p.Cys34Ser						p.C34S	NM_002983	NP_002974	P10147	CCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	203	-		Ovarian(249;0.17)	34						Missense_Mutation	SNP	ENST00000225245.5	37	c.101G>C	CCDS11307.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	15.29	2.788998	0.49997	.	.	ENSG00000006075	ENST00000225245	D	0.86030	-2.06	5.29	5.29	0.74685	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.000000	0.85682	D	0.000000	D	0.92133	0.7506	.	.	.	0.46437	D	0.999041	D	0.89917	1.0	D	0.97110	1.0	D	0.92683	0.6160	9	0.87932	D	0	.	14.2941	0.66300	0.0:1.0:0.0:0.0	.	34	P10147	CCL3_HUMAN	S	34	ENSP00000225245:C34S	ENSP00000225245:C34S	C	-	2	0	CCL3	31440729	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	4.243000	0.58721	2.755000	0.94549	0.650000	0.86243	TGC		PASS	0.552	CCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256581.1	NM_002983		55	113	55	113	---	---	---	---
DDX52	11056	broad.mit.edu	37	17	35980966	35980966	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:35980966C>T	ENST00000349699.2	-	12	1572	c.1529G>A	c.(1528-1530)gGa>gAa	p.G510E	DDX52_ENST00000394367.3_Missense_Mutation_p.G402E	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	510	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.G510E(1)		biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				AATTGCTTTTCCCTTATTCCC	0.323																																						uc002hoi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1528-1530)GGA>GAA		ATP-dependent RNA helicase ROK1 isoform a							93.0	92.0	93.0					17																	35980966		2203	4300	6503	SO:0001583	missense	11056					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr17:35980966C>T	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.1529G>A	17.37:g.35980966C>T	ENSP00000268854:p.Gly510Glu					DDX52_uc002hoh.1_Missense_Mutation_p.G402E	p.G510E	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN			12	1567	-		Breast(25;0.00637)|Ovarian(249;0.15)	510			Helicase C-terminal.		Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	ENST00000349699.2	37	c.1529G>A	CCDS11323.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652212	0.88056	.	.	ENSG00000141141	ENST00000349699;ENST00000394367	T;T	0.08008	3.14;3.14	5.8	5.8	0.92144	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.52175	0.1718	H	0.99475	4.585	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.74393	-0.3680	10	0.87932	D	0	-17.689	19.0588	0.93078	0.0:1.0:0.0:0.0	.	510	Q9Y2R4	DDX52_HUMAN	E	510;402	ENSP00000268854:G510E;ENSP00000377893:G402E	ENSP00000268854:G510E	G	-	2	0	DDX52	33055079	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.414000	0.66405	2.744000	0.94065	0.655000	0.94253	GGA		PASS	0.323	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		40	87	40	87	---	---	---	---
STAC2	342667	broad.mit.edu	37	17	37373068	37373068	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:37373068G>T	ENST00000333461.5	-	4	950	c.581C>A	c.(580-582)cCc>cAc	p.P194H		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	194					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.P194H(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CTCACCAGTGGGTGGGGACTC	0.607																																						uc002hrs.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(580-582)CCC>CAC		SH3 and cysteine rich domain 2							43.0	39.0	40.0					17																	37373068		2199	4295	6494	SO:0001583	missense	342667				intracellular signal transduction		metal ion binding	g.chr17:37373068G>T	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.581C>A	17.37:g.37373068G>T	ENSP00000327509:p.Pro194His					STAC2_uc010cvt.2_Missense_Mutation_p.P52H	p.P194H	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN			4	800	-			194					Q32MA3	Missense_Mutation	SNP	ENST00000333461.5	37	c.581C>A	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.457549	0.84317	.	.	ENSG00000141750	ENST00000333461	T	0.81163	-1.46	5.47	5.47	0.80525	.	0.064283	0.64402	D	0.000007	D	0.89051	0.6605	M	0.65975	2.015	0.44201	D	0.997027	D	0.89917	1.0	D	0.87578	0.998	D	0.89842	0.4003	10	0.87932	D	0	-3.3202	18.0871	0.89461	0.0:0.0:1.0:0.0	.	194	Q6ZMT1	STAC2_HUMAN	H	194	ENSP00000327509:P194H	ENSP00000327509:P194H	P	-	2	0	STAC2	34626594	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.333000	0.72939	2.567000	0.86603	0.484000	0.47621	CCC		PASS	0.607	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		9	10	9	10	---	---	---	---
IKZF3	22806	broad.mit.edu	37	17	37949016	37949016	+	Silent	SNP	T	T	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:37949016T>G	ENST00000346872.3	-	4	395	c.334A>C	c.(334-336)Agg>Cgg	p.R112R	IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000535189.1_Silent_p.R78R|IKZF3_ENST00000377945.3_Silent_p.R112R|IKZF3_ENST00000351680.3_Silent_p.R112R|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000467757.1_Silent_p.R112R|IKZF3_ENST00000350532.3_Silent_p.R112R|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000377958.2_Intron|IKZF3_ENST00000346243.3_Silent_p.R112R|IKZF3_ENST00000439167.2_Silent_p.R78R|IKZF3_ENST00000439016.2_Silent_p.R112R	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	112					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R112R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGGTTGGCCTGCTACTATCG	0.393																																						uc002hsu.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|kidney(2)|skin(2)	6						c.(334-336)AGG>CGG		aiolos isoform 1							174.0	152.0	160.0					17																	37949016		2203	4300	6503	SO:0001819	synonymous_variant	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37949016T>G	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.334A>C	17.37:g.37949016T>G						IKZF3_uc002htd.2_Silent_p.R78R|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Silent_p.R78R|IKZF3_uc010cwe.2_Silent_p.R112R|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Silent_p.R112R|IKZF3_uc002hsx.2_Silent_p.R112R|IKZF3_uc002hsy.2_Silent_p.R112R|IKZF3_uc002hsz.2_Silent_p.R112R|IKZF3_uc002hta.2_Silent_p.R112R|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Intron|IKZF3_uc002htc.2_5'UTR	p.R112R	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		4	396	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		112					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Silent	SNP	ENST00000346872.3	37	c.334A>C	CCDS11346.1																																																																																				PASS	0.393	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		28	197	28	197	---	---	---	---
PSMD3	5709	broad.mit.edu	37	17	38152561	38152561	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:38152561C>A	ENST00000264639.4	+	10	1620	c.1446C>A	c.(1444-1446)ttC>ttA	p.F482L	PSMD3_ENST00000541736.1_Missense_Mutation_p.F344L	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	482					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.F482L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					GCATCTCCTTCTGCCTAGATA	0.557																																					Ovarian(186;531 2051 6385 19668 48409)	uc002htn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1444-1446)TTC>TTA		proteasome 26S non-ATPase subunit 3							202.0	188.0	193.0					17																	38152561		2203	4300	6503	SO:0001583	missense	5709				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	g.chr17:38152561C>A	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.1446C>A	17.37:g.38152561C>A	ENSP00000264639:p.Phe482Leu					PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Missense_Mutation_p.F383L	p.F482L	NM_002809	NP_002800	O43242	PSMD3_HUMAN			10	1610	+	Colorectal(19;0.000442)		482					B3KMW9|B4DT72|Q96EI2|Q9BQA4	Missense_Mutation	SNP	ENST00000264639.4	37	c.1446C>A	CCDS11356.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386233	0.82902	.	.	ENSG00000108344	ENST00000264639;ENST00000415039;ENST00000541736;ENST00000540504	.	.	.	5.29	5.29	0.74685	26S proteasome regulatory subunit, C-terminal (1);Proteasome component (PCI) domain (1);	0.000000	0.85682	D	0.000000	T	0.81791	0.4897	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84747	0.0754	9	0.66056	D	0.02	-20.2248	9.6925	0.40136	0.0:0.8431:0.0:0.1569	.	482	O43242	PSMD3_HUMAN	L	482;469;344;63	.	ENSP00000264639:F482L	F	+	3	2	PSMD3	35406087	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.070000	0.57548	2.455000	0.83008	0.561000	0.74099	TTC		PASS	0.557	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809		54	300	54	300	---	---	---	---
THRA	7067	broad.mit.edu	37	17	38230776	38230776	+	Nonsense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:38230776C>G	ENST00000264637.4	+	2	615	c.35C>G	c.(34-36)tCa>tGa	p.S12*	THRA_ENST00000394121.4_Nonsense_Mutation_p.S12*|THRA_ENST00000584985.1_Nonsense_Mutation_p.S12*|THRA_ENST00000450525.2_Nonsense_Mutation_p.S12*|THRA_ENST00000546243.1_Nonsense_Mutation_p.S12*	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	12	Modulating.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S12*(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GAGTGTGGGTCAGACCCAGAG	0.582																																						uc002htw.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(34-36)TCA>TGA		thyroid hormone receptor, alpha isoform 2	Levothyroxine(DB00451)|Liothyronine(DB00279)						191.0	161.0	171.0					17																	38230776		2203	4300	6503	SO:0001587	stop_gained	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38230776C>G	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.35C>G	17.37:g.38230776C>G	ENSP00000264637:p.Ser12*					THRA_uc010cwp.1_Nonsense_Mutation_p.S12*|THRA_uc002htv.2_Nonsense_Mutation_p.S12*|THRA_uc002htx.2_Nonsense_Mutation_p.S12*	p.S12*	NM_003250	NP_003241	P10827	THA_HUMAN			2	518	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	12			Modulating.		A8K3B5|P21205|Q8N6A1|Q96H73	Nonsense_Mutation	SNP	ENST00000264637.4	37	c.35C>G	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	C	40	7.956232	0.98580	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	.	.	.	4.03	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	14.4806	0.67579	0.0:1.0:0.0:0.0	.	.	.	.	X	12	.	ENSP00000264637:S12X	S	+	2	0	THRA	35484302	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.252000	0.58785	2.243000	0.73865	0.407000	0.27541	TCA		PASS	0.582	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			8	62	8	62	---	---	---	---
WIPF2	147179	broad.mit.edu	37	17	38421164	38421164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:38421164C>T	ENST00000323571.4	+	5	976	c.736C>T	c.(736-738)Cag>Tag	p.Q246*	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Nonsense_Mutation_p.Q246*|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Nonsense_Mutation_p.Q246*	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	246					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)		p.Q246*(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						ACCAAGTGGCCAGTCTCTGGC	0.617										HNSCC(43;0.11)																												uc002hug.1																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						c.(736-738)CAG>TAG		WIRE protein							169.0	152.0	158.0					17																	38421164		2203	4300	6503	SO:0001587	stop_gained	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38421164C>T	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.736C>T	17.37:g.38421164C>T	ENSP00000320924:p.Gln246*	HNSCC(43;0.11)				WIPF2_uc002huh.1_Nonsense_Mutation_p.Q96*|WIPF2_uc010cww.1_Nonsense_Mutation_p.Q96*|WIPF2_uc002hui.1_Nonsense_Mutation_p.Q246*|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Nonsense_Mutation_p.Q246*	p.Q246*	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN			5	976	+			246					A8K0L3|Q658J8|Q71RE1|Q8TE44	Nonsense_Mutation	SNP	ENST00000323571.4	37	c.736C>T	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	C	37	6.031501	0.97221	.	.	ENSG00000171475	ENST00000323571	.	.	.	5.69	5.69	0.88448	.	0.522607	0.22040	N	0.065462	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-9.7147	19.4683	0.94952	0.0:1.0:0.0:0.0	.	.	.	.	X	246	.	ENSP00000320924:Q246X	Q	+	1	0	WIPF2	35674690	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.620000	0.61226	2.698000	0.92095	0.456000	0.33151	CAG		PASS	0.617	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		12	255	12	255	---	---	---	---
KRT28	162605	broad.mit.edu	37	17	38956043	38956043	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:38956043C>A	ENST00000306658.7	-	1	168	c.103G>T	c.(103-105)Gca>Tca	p.A35S		NM_181535.3	NP_853513.2			keratin 28									p.A35S(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CCACCACATGCACTGCTGCCT	0.547																																					Melanoma(19;789 869 15380 26882 39836)	uc002hvh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(103-105)GCA>TCA		keratin 25D							90.0	98.0	95.0					17																	38956043		2203	4300	6503	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38956043C>A	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.103G>T	17.37:g.38956043C>A	ENSP00000305263:p.Ala35Ser						p.A35S	NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN			1	169	-		Breast(137;0.000301)	35			Gly-rich.|Head.			Missense_Mutation	SNP	ENST00000306658.7	37	c.103G>T	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	C	0.087	-1.173111	0.01646	.	.	ENSG00000173908	ENST00000306658	T	0.74526	-0.85	5.52	-0.259	0.12971	.	0.669254	0.13739	N	0.366139	T	0.42720	0.1215	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.31308	-0.9948	10	0.09843	T	0.71	.	5.6786	0.17763	0.3105:0.4814:0.0:0.2081	.	35	Q7Z3Y7	K1C28_HUMAN	S	35	ENSP00000305263:A35S	ENSP00000305263:A35S	A	-	1	0	KRT28	36209569	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	0.735000	0.26115	0.363000	0.24346	-0.142000	0.14014	GCA		PASS	0.547	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		15	180	15	180	---	---	---	---
KRT12	3859	broad.mit.edu	37	17	39023065	39023065	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:39023065T>A	ENST00000251643.4	-	1	397	c.374A>T	c.(373-375)gAa>gTa	p.E125V		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	125	Coil 1A.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.E125V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	AGTTTCTTTTTCTGATCCAGA	0.463																																						uc002hvk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(373-375)GAA>GTA		keratin 12							111.0	128.0	122.0					17																	39023065		2203	4300	6503	SO:0001583	missense	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39023065T>A		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.374A>T	17.37:g.39023065T>A	ENSP00000251643:p.Glu125Val						p.E125V	NM_000223	NP_000214	Q99456	K1C12_HUMAN			1	398	-		Breast(137;0.000301)	125			Rod.|Coil 1A.		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	c.374A>T	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.679349	0.88542	.	.	ENSG00000187242	ENST00000251643	D	0.94184	-3.37	5.91	5.91	0.95273	Filament (1);	0.000000	0.52532	D	0.000077	D	0.98321	0.9443	H	0.99336	4.52	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	D	0.99793	1.1032	10	0.87932	D	0	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	125	Q99456	K1C12_HUMAN	V	125	ENSP00000251643:E125V	ENSP00000251643:E125V	E	-	2	0	KRT12	36276591	0.973000	0.33851	1.000000	0.80357	0.845000	0.48019	4.295000	0.59049	2.254000	0.74563	0.533000	0.62120	GAA		PASS	0.463	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		23	403	23	403	---	---	---	---
HAP1	9001	broad.mit.edu	37	17	39883619	39883619	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:39883619C>T	ENST00000310778.5	-	9	1371	c.1362G>A	c.(1360-1362)gtG>gtA	p.V454V	HAP1_ENST00000393939.2_Intron|HAP1_ENST00000341193.5_Intron|HAP1_ENST00000347901.4_Intron|RN7SL399P_ENST00000471648.2_RNA|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	454	Glu-rich.|HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GGAGGGTCTTCACCTCCTCCT	0.627																																						uc002hxm.1																			0				ovary(2)	2						c.(1360-1362)GTG>GTA		huntingtin-associated protein 1 isoform 2							121.0	117.0	118.0					17																	39883619		2203	4300	6503	SO:0001819	synonymous_variant	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39883619C>T	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1362G>A	17.37:g.39883619C>T						JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Intron|HAP1_uc002hxo.1_Intron|HAP1_uc002hxp.1_Intron	p.V454V	NM_177977	NP_817084	P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		9	1374	-		Breast(137;0.000162)	454			Glu-rich.|HAP1 N-terminal.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Silent	SNP	ENST00000310778.5	37	c.1362G>A																																																																																					PASS	0.627	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		24	119	24	119	---	---	---	---
ACLY	47	broad.mit.edu	37	17	40030069	40030069	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:40030069C>T	ENST00000352035.2	-	23	2767	c.2637G>A	c.(2635-2637)caG>caA	p.Q879Q	ACLY_ENST00000353196.1_Silent_p.Q869Q|ACLY_ENST00000537919.1_Silent_p.Q608Q|ACLY_ENST00000590151.1_Silent_p.Q879Q|ACLY_ENST00000393896.2_Silent_p.Q869Q	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	879					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.Q879Q(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CTCACCTTTTCTGGAACCAGA	0.577																																					Colon(64;807 1396 15971 30971)	uc002hyg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2635-2637)CAG>CAA		ATP citrate lyase isoform 1							68.0	72.0	70.0					17																	40030069		2203	4300	6503	SO:0001819	synonymous_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40030069C>T	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2637G>A	17.37:g.40030069C>T						ACLY_uc002hyh.2_Silent_p.Q869Q|ACLY_uc002hyi.2_Silent_p.Q933Q|ACLY_uc010wfx.1_Silent_p.Q923Q|ACLY_uc010wfy.1_Silent_p.Q608Q	p.Q879Q	NM_001096	NP_001087	P53396	ACLY_HUMAN			23	2800	-		Breast(137;0.000143)	879					B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	c.2637G>A	CCDS11412.1																																																																																				PASS	0.577	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		44	215	44	215	---	---	---	---
UBTF	7343	broad.mit.edu	37	17	42289010	42289010	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:42289010C>T	ENST00000302904.4	-	10	1503	c.1011G>A	c.(1009-1011)caG>caA	p.Q337Q	CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000343638.5_Silent_p.Q300Q|UBTF_ENST00000393606.3_Silent_p.Q300Q|UBTF_ENST00000526094.1_Silent_p.Q300Q|UBTF_ENST00000533177.1_Silent_p.Q300Q|UBTF_ENST00000527034.1_Silent_p.Q300Q|UBTF_ENST00000436088.1_Silent_p.Q337Q|UBTF_ENST00000529383.1_Silent_p.Q337Q			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	337					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Q337Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCTTCTCCTTCTGGGACAGCA	0.582																																						uc002igb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1009-1011)CAG>CAA		upstream binding transcription factor, RNA							103.0	98.0	100.0					17																	42289010		2203	4300	6503	SO:0001819	synonymous_variant	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42289010C>T	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1011G>A	17.37:g.42289010C>T						UBTF_uc002igc.2_Silent_p.Q300Q|UBTF_uc010czs.2_Silent_p.Q337Q|UBTF_uc002igd.2_Silent_p.Q300Q|UBTF_uc010czt.2_Silent_p.Q337Q|UBTF_uc002ige.2_Silent_p.Q300Q	p.Q337Q	NM_014233	NP_055048	P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	9	1078	-		Breast(137;0.00765)|Prostate(33;0.0181)	337			HMG box 3.		A8K6R8	Silent	SNP	ENST00000302904.4	37	c.1011G>A	CCDS11480.1																																																																																				PASS	0.582	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		25	147	25	147	---	---	---	---
PLEKHM1	9842	broad.mit.edu	37	17	43531063	43531063	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:43531063C>T	ENST00000430334.3	-	7	2288	c.2155G>A	c.(2155-2157)Gag>Aag	p.E719K	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.E630K|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	719	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)	p.E719K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					AGCATCTTCTCATTGTTCCTG	0.527																																						uc002ija.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2155-2157)GAG>AAG		pleckstrin homology domain containing, family M							26.0	24.0	25.0					17																	43531063		2199	4290	6489	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43531063C>T	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2155G>A	17.37:g.43531063C>T	ENSP00000389913:p.Glu719Lys					PLEKHM1_uc010wjm.1_Missense_Mutation_p.E691K|PLEKHM1_uc002ijb.2_Missense_Mutation_p.E194K|PLEKHM1_uc010wjn.1_Missense_Mutation_p.E668K|PLEKHM1_uc002ijc.2_Missense_Mutation_p.E173K	p.E719K	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN			7	2325	-	Renal(3;0.0405)		719			PH 2.		Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.2155G>A	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569871	0.28003	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.61510	0.1;0.1	4.91	2.9	0.33743	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.247315	0.42548	D	0.000688	T	0.46092	0.1375	N	0.12182	0.205	0.24522	N	0.994152	P;D;B	0.60575	0.698;0.988;0.205	B;P;B	0.52343	0.175;0.696;0.052	T	0.34378	-0.9831	10	0.45353	T	0.12	.	9.2525	0.37564	0.0:0.7725:0.1466:0.0809	.	630;668;719	F8W648;B4DRX1;Q9Y4G2	.;.;PKHM1_HUMAN	K	719;668;630	ENSP00000389913:E719K;ENSP00000414352:E630K	ENSP00000414352:E630K	E	-	1	0	PLEKHM1	40886846	0.993000	0.37304	0.810000	0.32431	0.361000	0.29550	2.809000	0.47971	0.667000	0.31107	-0.236000	0.12185	GAG		PASS	0.527	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		12	54	12	54	---	---	---	---
PLEKHM1	9842	broad.mit.edu	37	17	43552830	43552830	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:43552830C>T	ENST00000430334.3	-	4	692	c.559G>A	c.(559-561)Gag>Aag	p.E187K	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.E98K	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	187					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)	p.E187K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					AGCGTCCACTCATTTAAGATG	0.572																																						uc002ija.2																			1	Substitution - Missense(1)		lung(1)		0						c.(559-561)GAG>AAG		pleckstrin homology domain containing, family M							64.0	58.0	60.0					17																	43552830		2203	4300	6503	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43552830C>T	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.559G>A	17.37:g.43552830C>T	ENSP00000389913:p.Glu187Lys					PLEKHM1_uc010wjm.1_Missense_Mutation_p.E159K|PLEKHM1_uc002ijb.2_5'UTR|PLEKHM1_uc010wjn.1_Missense_Mutation_p.E136K|hsa-mir-4315-1|MI0015844_5'Flank	p.E187K	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN			4	729	-	Renal(3;0.0405)		187					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.559G>A	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834533	0.50951	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.12984	2.63;2.63	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.23370	0.0565	L	0.32530	0.975	0.80722	D	1	D;D	0.56521	0.976;0.966	P;P	0.59056	0.777;0.851	T	0.00589	-1.1656	10	0.34782	T	0.22	.	17.1001	0.86647	0.0:1.0:0.0:0.0	.	98;187	F8W648;Q9Y4G2	.;PKHM1_HUMAN	K	187;136;98	ENSP00000389913:E187K;ENSP00000414352:E98K	ENSP00000414352:E98K	E	-	1	0	PLEKHM1	40908613	1.000000	0.71417	0.993000	0.49108	0.693000	0.40251	4.496000	0.60360	2.608000	0.88229	0.655000	0.94253	GAG		PASS	0.572	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		18	123	18	123	---	---	---	---
PLEKHM1	9842	broad.mit.edu	37	17	43552914	43552914	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:43552914C>A	ENST00000430334.3	-	4	608	c.475G>T	c.(475-477)Gag>Tag	p.E159*	PLEKHM1_ENST00000421073.2_Nonsense_Mutation_p.E70*	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	159	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)	p.E159*(1)		breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TCGCCCTCCTCAGCATCCCGG	0.597																																						uc002ija.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(475-477)GAG>TAG		pleckstrin homology domain containing, family M							46.0	44.0	45.0					17																	43552914		2202	4300	6502	SO:0001587	stop_gained	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43552914C>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.475G>T	17.37:g.43552914C>A	ENSP00000389913:p.Glu159*					PLEKHM1_uc010wjm.1_Nonsense_Mutation_p.E131*|PLEKHM1_uc002ijb.2_5'UTR|PLEKHM1_uc010wjn.1_Nonsense_Mutation_p.E108*|hsa-mir-4315-1|MI0015844_5'Flank	p.E159*	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN			4	645	-	Renal(3;0.0405)		159			RUN.		Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Nonsense_Mutation	SNP	ENST00000430334.3	37	c.475G>T	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284911	0.80803	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	17.1001	0.86647	0.0:1.0:0.0:0.0	.	.	.	.	X	159;108;70	.	ENSP00000414352:E70X	E	-	1	0	PLEKHM1	40908697	1.000000	0.71417	0.984000	0.44739	0.555000	0.35460	5.610000	0.67668	2.608000	0.88229	0.655000	0.94253	GAG		PASS	0.597	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		11	82	11	82	---	---	---	---
EFCAB13	124989	broad.mit.edu	37	17	45412602	45412602	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:45412602C>G	ENST00000331493.2	+	5	482	c.71C>G	c.(70-72)tCt>tGt	p.S24C	ITGB3_ENST00000560629.1_3'UTR|ITGB3_ENST00000435993.2_3'UTR|EFCAB13_ENST00000517484.1_Missense_Mutation_p.S24C|EFCAB13_ENST00000520802.1_Intron	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	24						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S24C(1)									GGCTCTAATTCTTTTGCAACT	0.343																																						uc002iln.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)|skin(1)	3						c.(70-72)TCT>TGT		hypothetical protein LOC124989							120.0	120.0	120.0					17																	45412602		2203	4299	6502	SO:0001583	missense	124989						calcium ion binding	g.chr17:45412602C>G	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.71C>G	17.37:g.45412602C>G	ENSP00000332111:p.Ser24Cys					ITGB3_uc010wkr.1_RNA|C17orf57_uc002ilm.2_Missense_Mutation_p.S24C|C17orf57_uc002ill.1_5'UTR|C17orf57_uc010daz.1_Missense_Mutation_p.S24C	p.S24C	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN			5	482	+			24					G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.71C>G	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.236067	0.39498	.	.	ENSG00000178852	ENST00000523285;ENST00000331493;ENST00000519772;ENST00000517484;ENST00000344176	T;T	0.70399	0.02;-0.48	2.62	2.62	0.31277	.	0.484707	0.15475	N	0.260420	T	0.77928	0.4204	L	0.54323	1.7	0.09310	N	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77557	0.973;0.99;0.973	T	0.64428	-0.6410	10	0.87932	D	0	.	8.8996	0.35485	0.0:1.0:0.0:0.0	.	24;24;24	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	C	24	ENSP00000332111:S24C;ENSP00000430048:S24C	ENSP00000332111:S24C	S	+	2	0	C17orf57	42767601	0.002000	0.14202	0.087000	0.20705	0.784000	0.44337	0.812000	0.27211	1.777000	0.52277	0.650000	0.86243	TCT		PASS	0.343	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		45	303	45	303	---	---	---	---
SP6	80320	broad.mit.edu	37	17	45925390	45925390	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:45925390G>C	ENST00000536300.1	-	2	737	c.406C>G	c.(406-408)Cag>Gag	p.Q136E	SP6_ENST00000342234.2_Missense_Mutation_p.Q136E	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	136					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|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.Q136E(1)		large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						AGCGCGCCCTGAGTGTGGGGG	0.687																																						uc002img.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(406-408)CAG>GAG		Sp6 transcription factor							18.0	18.0	18.0					17																	45925390		2194	4295	6489	SO:0001583	missense	80320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:45925390G>C		CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14530	protein-coding gene	gene with protein product	"""epiprofin"""	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.406C>G	17.37:g.45925390G>C	ENSP00000438209:p.Gln136Glu					SP6_uc002imh.1_Missense_Mutation_p.Q136E	p.Q136E	NM_199262	NP_954871	Q3SY56	SP6_HUMAN			2	738	-			136					B3KXS4	Missense_Mutation	SNP	ENST00000536300.1	37	c.406C>G	CCDS11520.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416948	0.42918	.	.	ENSG00000189120	ENST00000342234;ENST00000536300	T;T	0.07688	3.17;3.17	4.35	4.35	0.52113	.	0.000000	0.41194	D	0.000938	T	0.09113	0.0225	L	0.43923	1.385	0.30643	N	0.756206	B	0.27765	0.188	B	0.28232	0.087	T	0.06899	-1.0801	10	0.18276	T	0.48	.	15.8112	0.78565	0.0:0.0:1.0:0.0	.	136	Q3SY56	SP6_HUMAN	E	136	ENSP00000340799:Q136E;ENSP00000438209:Q136E	ENSP00000340799:Q136E	Q	-	1	0	SP6	43280389	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.255000	0.51484	2.253000	0.74438	0.462000	0.41574	CAG		PASS	0.687	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441395.1	NM_199262		6	20	6	20	---	---	---	---
SKAP1	8631	broad.mit.edu	37	17	46247982	46247982	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:46247982C>G	ENST00000336915.6	-	10	935	c.866G>C	c.(865-867)cGa>cCa	p.R289P	SKAP1_ENST00000584924.1_Missense_Mutation_p.R289P	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	289					positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.R289P(1)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TCCTTTTCGTCGAGTGCCACT	0.408																																						uc002ini.1																			1	Substitution - Missense(1)		lung(1)		0						c.(865-867)CGA>CCA		src kinase associated phosphoprotein 1 isoform							282.0	232.0	249.0					17																	46247982		2203	4300	6503	SO:0001583	missense	8631				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	g.chr17:46247982C>G	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"""Pleckstrin homology (PH) domain containing"""	15605	protein-coding gene	gene with protein product		604969	"""src family associated phosphoprotein 1"""	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.866G>C	17.37:g.46247982C>G	ENSP00000338171:p.Arg289Pro					SKAP1_uc002inj.1_Missense_Mutation_p.R289P|SKAP1_uc010dbd.1_Missense_Mutation_p.R195P|SKAP1_uc010dbe.1_Missense_Mutation_p.R289P	p.R289P	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN			10	978	-			289					D3DTV1|O15268	Missense_Mutation	SNP	ENST00000336915.6	37	c.866G>C	CCDS32674.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111670	0.37242	.	.	ENSG00000141293	ENST00000336915	T	0.27890	1.64	5.93	-9.5	0.00584	Src homology-3 domain (1);	2.589840	0.00892	N	0.002246	T	0.18841	0.0452	L	0.38175	1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.08659	-1.0711	10	0.29301	T	0.29	-31.677	5.0273	0.14391	0.0964:0.1153:0.204:0.5844	.	289;289	Q86WV1-2;Q86WV1	.;SKAP1_HUMAN	P	289	ENSP00000338171:R289P	ENSP00000338171:R289P	R	-	2	0	SKAP1	43602981	0.000000	0.05858	0.000000	0.03702	0.441000	0.31987	-2.790000	0.00767	-1.622000	0.01560	0.650000	0.86243	CGA		PASS	0.408	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1	NM_003726		135	266	135	266	---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48696040	48696040	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:48696040G>C	ENST00000359106.5	+	33	5452	c.5452G>C	c.(5452-5454)Gag>Cag	p.E1818Q	CACNA1G_ENST00000354983.4_Missense_Mutation_p.E1784Q|CACNA1G_ENST00000512389.1_Missense_Mutation_p.E1807Q|CACNA1G_ENST00000505165.1_Missense_Mutation_p.E1818Q|CACNA1G_ENST00000513964.1_Missense_Mutation_p.E1773Q|CACNA1G_ENST00000503485.1_Missense_Mutation_p.E1784Q|CACNA1G_ENST00000515765.1_Missense_Mutation_p.E1807Q|CACNA1G_ENST00000360761.4_Missense_Mutation_p.E1795Q|CACNA1G_ENST00000515411.1_Missense_Mutation_p.E1800Q|CACNA1G_ENST00000358244.5_Missense_Mutation_p.E1784Q|CACNA1G_ENST00000510366.1_Missense_Mutation_p.E1766Q|CACNA1G_ENST00000507510.2_Missense_Mutation_p.E1818Q|CACNA1G_ENST00000502264.1_Missense_Mutation_p.E1795Q|CACNA1G_ENST00000514181.1_Missense_Mutation_p.E1793Q|CACNA1G_ENST00000514079.1_Missense_Mutation_p.E1825Q|CACNA1G_ENST00000514717.1_Missense_Mutation_p.E1761Q|CACNA1G_ENST00000507609.1_Missense_Mutation_p.E1811Q|CACNA1G_ENST00000442258.2_Missense_Mutation_p.E1777Q|CACNA1G_ENST00000513689.2_Missense_Mutation_p.E1773Q|CACNA1G_ENST00000507336.1_Missense_Mutation_p.E1807Q|CACNA1G_ENST00000510115.1_Missense_Mutation_p.E1784Q|CACNA1G_ENST00000429973.2_Missense_Mutation_p.E1800Q|CACNA1G_ENST00000515165.1_Missense_Mutation_p.E1818Q|CACNA1G_ENST00000507896.1_Missense_Mutation_p.E1807Q|CACNA1G_ENST00000352832.5_Missense_Mutation_p.E1784Q	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1818					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.E1818Q(2)|p.E1784Q(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGTGACCAGGAGTCCACCTG	0.572																																						uc002irk.1																			3	Substitution - Missense(3)		lung(3)	breast(1)	1						c.(5452-5454)GAG>CAG		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						51.0	50.0	51.0					17																	48696040		2122	4227	6349	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48696040G>C	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5452G>C	17.37:g.48696040G>C	ENSP00000352011:p.Glu1818Gln					CACNA1G_uc002irj.1_Missense_Mutation_p.E1784Q|CACNA1G_uc002irl.1_Missense_Mutation_p.E1795Q|CACNA1G_uc002irm.1_Missense_Mutation_p.E1784Q|CACNA1G_uc002irn.1_Missense_Mutation_p.E1777Q|CACNA1G_uc002iro.1_Missense_Mutation_p.E1784Q|CACNA1G_uc002irp.1_Missense_Mutation_p.E1818Q|CACNA1G_uc002irq.1_Missense_Mutation_p.E1795Q|CACNA1G_uc002irr.1_Missense_Mutation_p.E1818Q|CACNA1G_uc002irs.1_Missense_Mutation_p.E1807Q|CACNA1G_uc002irt.1_Missense_Mutation_p.E1800Q|CACNA1G_uc002irv.1_Missense_Mutation_p.E1807Q|CACNA1G_uc002irw.1_Missense_Mutation_p.E1795Q|CACNA1G_uc002iru.1_Missense_Mutation_p.E1784Q|CACNA1G_uc002irx.1_Missense_Mutation_p.E1731Q|CACNA1G_uc002iry.1_Missense_Mutation_p.E1720Q|CACNA1G_uc002irz.1_Missense_Mutation_p.E1724Q|CACNA1G_uc002isa.1_Missense_Mutation_p.E1697Q|CACNA1G_uc002isb.1_Missense_Mutation_p.E1738Q|CACNA1G_uc002isc.1_Missense_Mutation_p.E1720Q|CACNA1G_uc002isd.1_Missense_Mutation_p.E1706Q|CACNA1G_uc002ise.1_Missense_Mutation_p.E1686Q|CACNA1G_uc002isf.1_Missense_Mutation_p.E1713Q|CACNA1G_uc002isg.1_Missense_Mutation_p.E1679Q|CACNA1G_uc002ish.1_Missense_Mutation_p.E1686Q|CACNA1G_uc002isi.1_Missense_Mutation_p.E1674Q	p.E1818Q	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		33	5824	+	Breast(11;6.7e-17)		1818			IV.|Extracellular (Potential).		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.5452G>C	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	15.31	2.794629	0.50102	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97114	-4.14;-4.14;-4.09;-4.14;-4.14;-4.16;-4.24;-4.21;-4.23;-4.25;-4.11;-4.11;-4.17;-4.12;-4.08;-4.16;-4.12;-4.1;-4.16;-4.14;-4.11;-4.16;-4.09;-4.16;-4.17	4.88	4.88	0.63580	Ion transport (1);	0.412983	0.26680	N	0.023050	D	0.96417	0.8831	N	0.12853	0.265	0.28656	N	0.906409	B;B;B;D;D;B;B;B;B;B;B;B;B;D;B;P;B;B;D;P;B;B;B;P;B	0.67145	0.084;0.043;0.306;0.996;0.988;0.171;0.306;0.101;0.306;0.019;0.428;0.001;0.043;0.987;0.171;0.624;0.004;0.23;0.988;0.612;0.22;0.015;0.171;0.624;0.058	B;B;B;D;D;B;B;B;B;B;B;B;B;D;B;P;B;B;D;P;B;B;B;B;B	0.85130	0.16;0.143;0.36;0.997;0.934;0.16;0.287;0.278;0.287;0.092;0.226;0.006;0.201;0.915;0.16;0.542;0.043;0.182;0.934;0.606;0.158;0.065;0.226;0.439;0.037	D	0.92884	0.6325	10	0.48119	T	0.1	.	18.0984	0.89498	0.0:0.0:1.0:0.0	.	1761;1773;1766;1800;1773;1793;1825;1784;1811;1807;1818;1795;1807;1807;1800;1807;1818;1795;1818;1784;1777;1784;1795;1818;1784	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	Q	1795;1784;1784;1777;1795;1807;1773;1761;1766;1784;1818;1807;1773;1811;1784;1818;1793;1807;1825;1784;1818;1800;1800;1818;1807	ENSP00000353990:E1795Q;ENSP00000339302:E1784Q;ENSP00000347078:E1784Q;ENSP00000409759:E1777Q;ENSP00000425522:E1795Q;ENSP00000426261:E1807Q;ENSP00000425451:E1773Q;ENSP00000422407:E1761Q;ENSP00000426814:E1766Q;ENSP00000427238:E1784Q;ENSP00000423112:E1818Q;ENSP00000420918:E1807Q;ENSP00000426172:E1773Q;ENSP00000423045:E1811Q;ENSP00000427173:E1784Q;ENSP00000426098:E1818Q;ENSP00000425698:E1793Q;ENSP00000426232:E1807Q;ENSP00000423317:E1825Q;ENSP00000350979:E1784Q;ENSP00000352011:E1818Q;ENSP00000414388:E1800Q;ENSP00000423155:E1800Q;ENSP00000422268:E1818Q;ENSP00000421518:E1807Q	ENSP00000339302:E1784Q	E	+	1	0	CACNA1G	46051039	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.065000	0.57513	2.248000	0.74166	0.540000	0.68198	GAG		PASS	0.572	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		11	62	11	62	---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49197929	49197929	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:49197929G>C	ENST00000262013.7	-	1	297	c.89C>G	c.(88-90)tCc>tGc	p.S30C	SPAG9_ENST00000505279.1_Missense_Mutation_p.S30C|SPAG9_ENST00000357122.4_Missense_Mutation_p.S30C	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	30					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.S30C(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCGGTAGATGGAGCCGGCCAG	0.667																																						uc002itc.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|breast(1)	5						c.(88-90)TCC>TGC		sperm associated antigen 9 isoform 1							38.0	36.0	36.0					17																	49197929		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49197929G>C	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.89C>G	17.37:g.49197929G>C	ENSP00000262013:p.Ser30Cys					SPAG9_uc002itb.2_Missense_Mutation_p.S30C|SPAG9_uc002itd.2_Missense_Mutation_p.S30C	p.S30C	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		1	298	-			30					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.89C>G	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060182	0.76074	.	.	ENSG00000008294	ENST00000262013;ENST00000505279;ENST00000357122;ENST00000546269	T;T;T	0.49139	0.79;0.79;0.79	3.66	3.66	0.41972	JNK/Rab-associated protein-1, N-terminal (1);	0.000000	0.64402	U	0.000008	T	0.68559	0.3014	M	0.84326	2.69	0.41553	D	0.988582	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.74500	-0.3645	10	0.87932	D	0	-4.6817	11.787	0.52047	0.0:0.1782:0.8218:0.0	.	30;30;30	O60271-2;O60271;O60271-4	.;JIP4_HUMAN;.	C	30	ENSP00000262013:S30C;ENSP00000426900:S30C;ENSP00000349636:S30C	ENSP00000262013:S30C	S	-	2	0	SPAG9	46552928	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.058000	0.30504	1.757000	0.51966	0.298000	0.19748	TCC		PASS	0.667	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		7	14	7	14	---	---	---	---
CA10	56934	broad.mit.edu	37	17	49710972	49710972	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:49710972G>C	ENST00000285273.4	-	9	1940	c.829C>G	c.(829-831)Cag>Gag	p.Q277E	CA10_ENST00000340813.6_Missense_Mutation_p.Q283E|CA10_ENST00000570565.1_Missense_Mutation_p.Q202E|CA10_ENST00000451037.2_Missense_Mutation_p.Q277E|CA10_ENST00000442502.2_Missense_Mutation_p.Q277E|CA10_ENST00000571918.1_5'Flank	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	277					brain development (GO:0007420)			p.Q277K(1)|p.Q277E(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	AGAAAGATCTGAGATGGCTGG	0.507																																						uc002itw.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(829-831)CAG>GAG		carbonic anhydrase X							103.0	90.0	94.0					17																	49710972		2203	4300	6503	SO:0001583	missense	56934				brain development			g.chr17:49710972G>C	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.829C>G	17.37:g.49710972G>C	ENSP00000285273:p.Gln277Glu					CA10_uc002itu.3_Missense_Mutation_p.Q206E|CA10_uc002itv.3_Missense_Mutation_p.Q283E|CA10_uc002itx.3_Missense_Mutation_p.Q277E|CA10_uc002ity.3_Missense_Mutation_p.Q277E|CA10_uc002itz.2_Missense_Mutation_p.Q277E	p.Q277E	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		8	1815	-			277					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.829C>G	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662842	0.67700	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.44	5.44	0.79542	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.55194	0.1905	N	0.20530	0.585	0.54753	D	0.999981	P;P;B	0.47604	0.898;0.832;0.372	P;P;B	0.51415	0.669;0.575;0.309	T	0.50659	-0.8802	10	0.02654	T	1	.	18.2623	0.90039	0.0:0.0:1.0:0.0	.	277;283;202	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	E	277;277;277;283	ENSP00000390666:Q277E;ENSP00000285273:Q277E;ENSP00000405388:Q277E;ENSP00000340363:Q283E	ENSP00000285273:Q277E	Q	-	1	0	CA10	47065971	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.331000	0.65905	2.558000	0.86282	0.655000	0.94253	CAG		PASS	0.507	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		35	77	35	77	---	---	---	---
C17orf47	284083	broad.mit.edu	37	17	56620706	56620706	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:56620706G>C	ENST00000321691.3	-	1	1023	c.842C>G	c.(841-843)tCt>tGt	p.S281C	RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	281								p.S281C(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACACCATCAGAATCTTTAAG	0.448																																						uc002iwq.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(841-843)TCT>TGT		hypothetical protein LOC284083							96.0	92.0	93.0					17																	56620706		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56620706G>C		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.842C>G	17.37:g.56620706G>C	ENSP00000354874:p.Ser281Cys					SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	p.S281C	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN			1	978	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		281					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.842C>G	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.497691	0.26861	.	.	ENSG00000181013	ENST00000321691	T	0.30714	1.52	5.46	1.68	0.24146	.	1.091510	0.07123	N	0.844297	T	0.19208	0.0461	N	0.08118	0	0.09310	N	1	P	0.46327	0.876	B	0.44163	0.443	T	0.18398	-1.0338	10	0.49607	T	0.09	0.1929	7.2361	0.26070	0.6771:0.0:0.3229:0.0	.	281	Q8NEP4	CQ047_HUMAN	C	281	ENSP00000354874:S281C	ENSP00000354874:S281C	S	-	2	0	C17orf47	53975705	0.000000	0.05858	0.007000	0.13788	0.001000	0.01503	0.277000	0.18734	0.297000	0.22615	-0.253000	0.11424	TCT		PASS	0.448	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		9	247	9	247	---	---	---	---
TRIM37	4591	broad.mit.edu	37	17	57181689	57181689	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:57181689G>T	ENST00000262294.7	-	2	347	c.88C>A	c.(88-90)Cat>Aat	p.H30N	TRIM37_ENST00000393065.2_Intron|AC099850.1_ENST00000451775.1_RNA|TRIM37_ENST00000376149.3_5'UTR|TRIM37_ENST00000584889.1_Missense_Mutation_p.H30N|TRIM37_ENST00000393066.3_Missense_Mutation_p.H30N	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	30					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H30N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTGGAGCAATGAGGACACAGG	0.368									Mulibrey Nanism																													uc002iwy.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7						c.(88-90)CAT>AAT		tripartite motif-containing 37 protein							89.0	80.0	83.0					17																	57181689		2203	4300	6503	SO:0001583	missense	4591	Mulibrey_Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57181689G>T	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.88C>A	17.37:g.57181689G>T	ENSP00000262294:p.His30Asn					TRIM37_uc002iwz.3_Missense_Mutation_p.H30N|TRIM37_uc002ixa.3_5'UTR|TRIM37_uc010woc.1_Intron|uc002ixb.2_5'Flank	p.H30N	NM_001005207	NP_001005207	O94972	TRI37_HUMAN			2	532	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		30			RING-type; degenerate.		Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.88C>A	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971064	0.92919	.	.	ENSG00000108395	ENST00000393066;ENST00000262294	T;T	0.27890	1.64;1.64	5.26	5.26	0.73747	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.42131	0.1189	L	0.32530	0.975	0.80722	D	1	D	0.58970	0.984	P	0.58577	0.841	T	0.21895	-1.0232	10	0.54805	T	0.06	-13.9451	18.0594	0.89372	0.0:0.0:1.0:0.0	.	30	O94972	TRI37_HUMAN	N	30	ENSP00000376785:H30N;ENSP00000262294:H30N	ENSP00000262294:H30N	H	-	1	0	TRIM37	54536471	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.345000	0.97053	2.615000	0.88500	0.644000	0.83932	CAT		PASS	0.368	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		4	103	4	103	---	---	---	---
BRIP1	83990	broad.mit.edu	37	17	59761290	59761290	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:59761290C>T	ENST00000259008.2	-	20	3384	c.3117G>A	c.(3115-3117)gaG>gaA	p.E1039E		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1039	Interaction with BRCA1.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E1039E(2)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTTCCATCTTCTCTGTTTTGA	0.418			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002izk.1			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(3115-3117)GAG>GAA	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							154.0	150.0	151.0					17																	59761290		2203	4300	6503	SO:0001819	synonymous_variant	83990	Fanconi_Anemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59761290C>T	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3117G>A	17.37:g.59761290C>T							p.E1039E	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			20	3258	-			1039			Interaction with BRCA1.		Q3MJE2|Q8NCI5	Silent	SNP	ENST00000259008.2	37	c.3117G>A	CCDS11631.1																																																																																				PASS	0.418	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		40	298	40	298	---	---	---	---
CCDC47	57003	broad.mit.edu	37	17	61842099	61842099	+	Splice_Site	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:61842099C>G	ENST00000225726.5	-	3	755		c.e3+1		CCDC47_ENST00000582252.1_Splice_Site|CCDC47_ENST00000403162.3_Splice_Site	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47						calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.?(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TGGATACCTACATCAACAATC	0.333																																						uc002jbs.3																			1	Unknown(1)		lung(1)		0						c.e3+1		coiled-coil domain containing 47 precursor							179.0	158.0	165.0					17																	61842099		2203	4299	6502	SO:0001630	splice_region_variant	57003					integral to membrane	protein binding	g.chr17:61842099C>G	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.372+1G>C	17.37:g.61842099C>G						CCDC47_uc010ddx.2_Splice_Site_p.D124_splice|CCDC47_uc002jbt.2_Splice_Site_p.D124_splice	p.D124_splice	NM_020198	NP_064583	Q96A33	CCD47_HUMAN			3	708	-								B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Splice_Site	SNP	ENST00000225726.5	37	c.372_splice	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135580	0.77662	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.117	0.89559	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC47	59195831	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.975000	0.63777	2.859000	0.98148	0.591000	0.81541	.		PASS	0.333	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198	Intron	25	156	25	156	---	---	---	---
CSH2	1443	broad.mit.edu	37	17	61950643	61950643	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:61950643C>A	ENST00000392886.2	-	2	218	c.67G>T	c.(67-69)Gag>Tag	p.E23*	CSH2_ENST00000336844.5_Nonsense_Mutation_p.E23*|CSH2_ENST00000345366.7_Nonsense_Mutation_p.E23*|CSH2_ENST00000560142.1_Nonsense_Mutation_p.E23*	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	23						extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.E23*(2)		endometrium(2)|large_intestine(1)|lung(3)	6						GCACCAGCCTCTTGAAGCCAG	0.622																																						uc002jch.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(67-69)GAG>TAG		chorionic somatomammotropin hormone 2 isoform 1							55.0	56.0	56.0					17																	61950643		2203	4298	6501	SO:0001587	stop_gained	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61950643C>A	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.67G>T	17.37:g.61950643C>A	ENSP00000376623:p.Glu23*					CSH2_uc002jcg.2_Nonsense_Mutation_p.E23*|CSH2_uc002jci.2_Nonsense_Mutation_p.E23*|GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Nonsense_Mutation_p.E23*	p.E23*	NM_020991	NP_066271	P01243	CSH_HUMAN			2	182	-			23					P01243|Q0VDB1|Q14407	Nonsense_Mutation	SNP	ENST00000392886.2	37	c.67G>T	CCDS42369.1	.	.	.	.	.	.	.	.	.	.	c	12.12	1.842767	0.32606	.	.	ENSG00000213218	ENST00000345366;ENST00000336844;ENST00000392886	.	.	.	4.42	3.2	0.36748	.	0.909157	0.09351	N	0.814117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	8.2359	0.31625	0.0:0.8644:0.0:0.1356	.	.	.	.	X	23	.	ENSP00000338816:E23X	E	-	1	0	CSH2	59304375	0.000000	0.05858	0.697000	0.30258	0.021000	0.10359	-0.297000	0.08276	1.995000	0.58328	0.561000	0.74099	GAG		PASS	0.622	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		10	70	10	70	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67270115	67270115	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:67270115G>T	ENST00000392676.3	-	20	2813	c.2749C>A	c.(2749-2751)Ctt>Att	p.L917I	ABCA5_ENST00000588877.1_Missense_Mutation_p.L917I|ABCA5_ENST00000392677.2_Missense_Mutation_p.L917I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	917					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L917I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GAATTTTGAAGAAGCAGACTT	0.398																																						uc002jif.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2749-2751)CTT>ATT		ATP-binding cassette, sub-family A , member 5							110.0	110.0	110.0					17																	67270115		2203	4300	6503	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67270115G>T	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.2749C>A	17.37:g.67270115G>T	ENSP00000376443:p.Leu917Ile					ABCA5_uc002jic.2_Missense_Mutation_p.L140I|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.L917I|ABCA5_uc002jih.2_Missense_Mutation_p.L917I|ABCA5_uc010dfe.2_Missense_Mutation_p.L917I	p.L917I	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN			19	3967	-	Breast(10;3.72e-11)		917					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.2749C>A	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	2.766	-0.256746	0.05829	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87029	-2.1;-2.2	5.53	4.56	0.56223	.	0.000000	0.51477	D	0.000094	T	0.77438	0.4130	L	0.34521	1.04	0.36210	D	0.851329	B;B	0.25521	0.027;0.128	B;B	0.24848	0.019;0.056	T	0.73275	-0.4034	9	.	.	.	.	6.0087	0.19562	0.0737:0.1339:0.6541:0.1383	.	917;917	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	I	917	ENSP00000376444:L917I;ENSP00000376443:L917I	.	L	-	1	0	ABCA5	64781710	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.908000	0.48750	1.469000	0.48083	0.585000	0.79938	CTT		PASS	0.398	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		6	178	6	178	---	---	---	---
SDK2	54549	broad.mit.edu	37	17	71346925	71346925	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:71346925C>G	ENST00000392650.3	-	42	5763	c.5763G>C	c.(5761-5763)caG>caC	p.Q1921H	SDK2_ENST00000388726.3_Missense_Mutation_p.Q1902H|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1921	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.Q1921H(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGTTGGCTTTCTGGGCTGGAG	0.542																																						uc010dfm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(5761-5763)CAG>CAC		sidekick 2							128.0	114.0	119.0					17																	71346925		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71346925C>G	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5763G>C	17.37:g.71346925C>G	ENSP00000376421:p.Gln1921His					SDK2_uc002jjt.3_Missense_Mutation_p.Q1061H	p.Q1921H	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			42	5763	-			1921			Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.5763G>C	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612487	0.66672	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.61040	0.14;0.15;1.42	5.35	4.39	0.52855	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70430	0.3223	M	0.62723	1.935	0.49687	D	0.999818	D;D	0.65815	0.995;0.993	P;D	0.64595	0.894;0.927	T	0.71454	-0.4588	10	0.46703	T	0.11	.	13.8639	0.63576	0.0:0.9265:0.0:0.0735	.	1921;1902	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	H	1545;1921;1902;1078;1921;262	ENSP00000376421:Q1921H;ENSP00000373378:Q1902H;ENSP00000407098:Q1078H	ENSP00000324967:Q1921H	Q	-	3	2	SDK2	68858520	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.462000	0.45049	1.255000	0.44051	0.655000	0.94253	CAG		PASS	0.542	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		19	164	19	164	---	---	---	---
ARMC7	79637	broad.mit.edu	37	17	73106666	73106666	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:73106666C>G	ENST00000245543.1	+	2	502	c.200C>G	c.(199-201)tCg>tGg	p.S67W	ARMC7_ENST00000581078.1_Intron|ARMC7_ENST00000582136.1_Missense_Mutation_p.S67W|ARMC7_ENST00000584947.1_Missense_Mutation_p.S67W	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	67						cytoplasm (GO:0005737)		p.S67W(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			GATTCGCTGTCGGAGGAGAAT	0.537																																						uc002jmw.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(199-201)TCG>TGG		armadillo repeat containing 7							83.0	81.0	82.0					17																	73106666		2203	4300	6503	SO:0001583	missense	79637						binding	g.chr17:73106666C>G	AK025813	CCDS11714.1	17q25	2013-02-14				ENSG00000125449		"""Armadillo repeat containing"""	26168	protein-coding gene	gene with protein product						12477932	Standard	NM_024585		Approved	FLJ22160	uc002jmw.1	Q9H6L4		ENST00000245543.1:c.200C>G	17.37:g.73106666C>G	ENSP00000245543:p.Ser67Trp					ARMC7_uc002jmv.1_Missense_Mutation_p.S67W|ARMC7_uc010wru.1_Intron	p.S67W	NM_024585	NP_078861	Q9H6L4	ARMC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		2	502	+	all_lung(278;0.14)|Lung NSC(278;0.168)		67			ARM 1.		B4DVA4	Missense_Mutation	SNP	ENST00000245543.1	37	c.200C>G	CCDS11714.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825449	0.50739	.	.	ENSG00000125449	ENST00000245543	T	0.54866	0.55	6.07	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	0.200259	0.41097	D	0.000955	T	0.66446	0.2790	L	0.48642	1.525	0.58432	D	0.999999	D	0.76494	0.999	D	0.65684	0.937	T	0.67647	-0.5617	10	0.72032	D	0.01	.	18.4886	0.90838	0.0:0.8548:0.1452:0.0	.	67	Q9H6L4	ARMC7_HUMAN	W	67	ENSP00000245543:S67W	ENSP00000245543:S67W	S	+	2	0	ARMC7	70618261	0.994000	0.37717	1.000000	0.80357	0.957000	0.61999	3.101000	0.50283	2.884000	0.98904	0.655000	0.94253	TCG		PASS	0.537	ARMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445846.1	NM_024585		15	125	15	125	---	---	---	---
SOCS3	9021	broad.mit.edu	37	17	76354523	76354523	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:76354523C>T	ENST00000330871.2	-	2	1069	c.654G>A	c.(652-654)ctG>ctA	p.L218L	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	218	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)	p.L218L(1)		kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			CGTACTGGTCCAGGAACTCCC	0.622																																						uc002jvl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(652-654)CTG>CTA		suppressor of cytokine signaling 3							33.0	37.0	36.0					17																	76354523		2203	4300	6503	SO:0001819	synonymous_variant	9021				anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity	g.chr17:76354523C>T	AB004904	CCDS11756.1	17q25.3	2014-09-17						"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.654G>A	17.37:g.76354523C>T							p.L218L	NM_003955	NP_003946	O14543	SOCS3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)		2	1070	-			218			SOCS box.		O14509	Silent	SNP	ENST00000330871.2	37	c.654G>A	CCDS11756.1																																																																																				PASS	0.622	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437300.1			4	84	4	84	---	---	---	---
CCDC40	55036	broad.mit.edu	37	17	78073442	78073442	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:78073442C>G	ENST00000397545.4	+	20	3324	c.3297C>G	c.(3295-3297)cgC>cgG	p.R1099R	GAA_ENST00000302262.3_5'Flank|GAA_ENST00000390015.3_5'Flank	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1099					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.R1099R(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGCGCCAGCGCCTGGACAAGC	0.642																																						uc010dht.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(3295-3297)CGC>CGG		coiled-coil domain containing 40							38.0	46.0	43.0					17																	78073442		2042	4190	6232	SO:0001819	synonymous_variant	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78073442C>G	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.3297C>G	17.37:g.78073442C>G						CCDC40_uc002jxm.3_Silent_p.R882R|CCDC40_uc002jxn.3_Silent_p.R495R|GAA_uc002jxo.2_5'Flank|GAA_uc002jxp.2_5'Flank|GAA_uc002jxq.2_5'Flank	p.R1099R	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		20	3324	+	all_neural(118;0.167)		1099					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	c.3297C>G	CCDS42395.1																																																																																				PASS	0.642	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		7	65	7	65	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78360162	78360162	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:78360162C>T	ENST00000582970.1	+	62	14795	c.14652C>T	c.(14650-14652)gtC>gtT	p.V4884V	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000508628.2_Silent_p.V4933V|RNF213_ENST00000336301.6_Silent_p.V2957V	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4884					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V4933V(1)|p.V2957V(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCGCTCTCGTCAGCTACTTGA	0.532																																						uc002jyh.1																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(8869-8871)GTC>GTT		ring finger protein 213							127.0	109.0	115.0					17																	78360162		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78360162C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14652C>T	17.37:g.78360162C>T						uc002jyi.1_Intron|RNF213_uc010dhx.1_5'UTR	p.V2957V	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		37	9094	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.8871C>T	CCDS58606.1																																																																																				PASS	0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		10	180	10	180	---	---	---	---
C17orf70	80233	broad.mit.edu	37	17	79516348	79516348	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:79516348C>G	ENST00000327787.8	-	4	1333	c.1287G>C	c.(1285-1287)ctG>ctC	p.L429L	C17orf70_ENST00000425898.2_5'Flank|C17orf70_ENST00000537152.1_Silent_p.L278L			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	429					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L429L(1)|p.L278L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TGCAGGTCATCAGGCGGCCTT	0.607																																						uc002kaq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1285-1287)CTG>CTC		Fanconi anemia core complex 100 kDa subunit							48.0	46.0	47.0					17																	79516348		2203	4300	6503	SO:0001819	synonymous_variant	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79516348C>G	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1287G>C	17.37:g.79516348C>G						C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Silent_p.L278L	p.L429L	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		4	1342	-	all_neural(118;0.0878)|Melanoma(429;0.242)		429					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Silent	SNP	ENST00000327787.8	37	c.1287G>C	CCDS32765.2																																																																																				PASS	0.607	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		6	77	6	77	---	---	---	---
FASN	2194	broad.mit.edu	37	17	80054246	80054246	+	Missense_Mutation	SNP	G	G	A	rs545413031		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr17:80054246G>A	ENST00000306749.2	-	2	294	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	26	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L26F(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCGCCGATGAGGTTGTCCCAG	0.647																																					Colon(59;314 1043 11189 28578 32273)	uc002kdu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(76-78)CTC>TTC		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						116.0	99.0	105.0					17																	80054246		2203	4299	6502	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80054246G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.76C>T	17.37:g.80054246G>A	ENSP00000304592:p.Leu26Phe						p.L26F	NM_004104	NP_004095	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		2	193	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		26			Beta-ketoacyl synthase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.76C>T	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441051	0.63067	.	.	ENSG00000169710	ENST00000306749	T	0.52295	0.67	4.07	1.78	0.24846	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.64402	D	0.000007	T	0.76248	0.3961	H	0.98951	4.38	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.78471	-0.2191	10	0.87932	D	0	-35.3857	6.0359	0.19708	0.1669:0.0:0.6793:0.1538	.	26	P49327	FAS_HUMAN	F	26	ENSP00000304592:L26F	ENSP00000304592:L26F	L	-	1	0	FASN	77647535	1.000000	0.71417	0.981000	0.43875	0.382000	0.30200	3.460000	0.53028	1.829000	0.53265	0.462000	0.41574	CTC		PASS	0.647	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		19	100	19	100	---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	333090	333090	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:333090C>G	ENST00000400256.3	-	7	2077	c.1870G>C	c.(1870-1872)Gag>Cag	p.E624Q		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	624	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.E624Q(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				ATTTCTTTCTCAACTGAAAAA	0.393																																						uc002kkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1870-1872)GAG>CAG		collectin sub-family member 12							72.0	77.0	75.0					18																	333090		2203	4300	6503	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:333090C>G	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1870G>C	18.37:g.333090C>G	ENSP00000383115:p.Glu624Gln						p.E624Q	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			7	2085	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	624			Extracellular (Potential).|C-type lectin.		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1870G>C	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810584	0.50421	.	.	ENSG00000158270	ENST00000400256	T	0.18657	2.2	5.91	5.04	0.67666	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.101773	0.64402	D	0.000003	T	0.27313	0.0670	M	0.65975	2.015	0.44181	D	0.996991	P	0.44044	0.825	B	0.42163	0.378	T	0.03630	-1.1018	10	0.29301	T	0.29	-20.8305	15.1751	0.72903	0.0:0.9324:0.0:0.0676	.	624	Q5KU26	COL12_HUMAN	Q	624	ENSP00000383115:E624Q	ENSP00000383115:E624Q	E	-	1	0	COLEC12	323090	1.000000	0.71417	0.820000	0.32676	0.504000	0.33889	4.601000	0.61090	1.506000	0.48736	0.650000	0.86243	GAG		PASS	0.393	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			26	351	26	351	---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	335072	335072	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:335072G>T	ENST00000400256.3	-	6	1693	c.1486C>A	c.(1486-1488)Cgt>Agt	p.R496S		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	496	Collagen-like 2.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.R496S(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TTGCCGCCACGCTCTCCGGGG	0.677																																						uc002kkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1486-1488)CGT>AGT		collectin sub-family member 12							28.0	31.0	30.0					18																	335072		2188	4273	6461	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:335072G>T	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1486C>A	18.37:g.335072G>T	ENSP00000383115:p.Arg496Ser						p.R496S	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			6	1701	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	496			Collagen-like 2.|Extracellular (Potential).		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1486C>A	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535785	0.27475	.	.	ENSG00000158270	ENST00000400256	T	0.16597	2.33	5.54	4.59	0.56863	.	0.097562	0.64402	D	0.000002	T	0.13543	0.0328	L	0.31371	0.925	0.35661	D	0.8125	B	0.27882	0.192	B	0.29942	0.109	T	0.16689	-1.0394	10	0.25751	T	0.34	-12.1266	13.0786	0.59100	0.0:0.0:0.7568:0.2432	.	496	Q5KU26	COL12_HUMAN	S	496	ENSP00000383115:R496S	ENSP00000383115:R496S	R	-	1	0	COLEC12	325072	0.991000	0.36638	0.996000	0.52242	0.179000	0.23085	4.522000	0.60539	2.590000	0.87494	0.563000	0.77884	CGT		PASS	0.677	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			14	250	14	250	---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	335092	335092	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:335092G>A	ENST00000400256.3	-	6	1673	c.1466C>T	c.(1465-1467)cCa>cTa	p.P489L		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	489	Collagen-like 2.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.P489L(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGGACCAGCTGGTCCAATTGG	0.677																																						uc002kkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1465-1467)CCA>CTA		collectin sub-family member 12							31.0	34.0	33.0					18																	335092		2196	4287	6483	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:335092G>A	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1466C>T	18.37:g.335092G>A	ENSP00000383115:p.Pro489Leu						p.P489L	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			6	1681	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	489			Collagen-like 2.|Extracellular (Potential).		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1466C>T	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168610	0.38315	.	.	ENSG00000158270	ENST00000400256	D	0.98684	-5.07	5.67	5.67	0.87782	.	0.202287	0.52532	D	0.000066	D	0.97942	0.9323	L	0.61218	1.895	0.80722	D	1	P	0.34892	0.474	B	0.40410	0.328	D	0.98054	1.0389	10	0.25751	T	0.34	-13.7379	19.7698	0.96359	0.0:0.0:1.0:0.0	.	489	Q5KU26	COL12_HUMAN	L	489	ENSP00000383115:P489L	ENSP00000383115:P489L	P	-	2	0	COLEC12	325092	1.000000	0.71417	0.264000	0.24511	0.001000	0.01503	7.771000	0.85420	2.659000	0.90383	0.655000	0.94253	CCA		PASS	0.677	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			19	282	19	282	---	---	---	---
CLUL1	27098	broad.mit.edu	37	18	627255	627255	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:627255C>G	ENST00000400606.2	+	5	727	c.582C>G	c.(580-582)ctC>ctG	p.L194L	CLUL1_ENST00000579494.1_Silent_p.L194L|CLUL1_ENST00000581619.1_Silent_p.L219L|CLUL1_ENST00000540035.1_Silent_p.L246L|CLUL1_ENST00000338387.7_Silent_p.L194L	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	194					cell death (GO:0008219)	extracellular region (GO:0005576)		p.L194L(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TGAATTCTCTCTTTAACAGGA	0.408																																						uc002kkp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(580-582)CTC>CTG		clusterin-like 1 (retinal) precursor							216.0	199.0	204.0					18																	627255		1911	4142	6053	SO:0001819	synonymous_variant	27098				cell death	extracellular region		g.chr18:627255C>G	D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.582C>G	18.37:g.627255C>G						CLUL1_uc010wys.1_Silent_p.L246L|CLUL1_uc002kkq.2_Silent_p.L194L	p.L194L	NM_014410	NP_055225	Q15846	CLUL1_HUMAN			5	727	+			194					A0FDN7	Silent	SNP	ENST00000400606.2	37	c.582C>G	CCDS42405.1																																																																																				PASS	0.408	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			63	826	63	826	---	---	---	---
SMCHD1	23347	broad.mit.edu	37	18	2705786	2705786	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:2705786G>A	ENST00000320876.6	+	14	2275	c.1937G>A	c.(1936-1938)gGa>gAa	p.G646E	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.G646E	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	646					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.G646E(2)|p.G94E(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GCTACAGGAGGAGAGGTTCAA	0.343																																						uc002klm.3																			3	Substitution - Missense(3)		lung(3)		0						c.(1936-1938)GGA>GAA		structural maintenance of chromosomes flexible							82.0	78.0	80.0					18																	2705786		1867	4087	5954	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2705786G>A	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1937G>A	18.37:g.2705786G>A	ENSP00000326603:p.Gly646Glu					SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_5'Flank	p.G646E	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			14	2126	+			646					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.1937G>A	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883558	0.51908	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.28454	1.61;1.63	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	L	0.55481	1.735	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	T	0.52653	-0.8547	10	0.87932	D	0	-17.9087	20.1951	0.98241	0.0:0.0:1.0:0.0	.	646	A6NHR9	SMHD1_HUMAN	E	646	ENSP00000326603:G646E;ENSP00000261598:G646E	ENSP00000261598:G646E	G	+	2	0	SMCHD1	2695786	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.645000	0.91049	2.780000	0.95670	0.585000	0.79938	GGA		PASS	0.343	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			17	201	17	201	---	---	---	---
SMCHD1	23347	broad.mit.edu	37	18	2750347	2750348	+	Splice_Site	DNP	GG	GG	TT			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:2750347_2750348GG>TT	ENST00000320876.6	+	32	4345_4346	c.4007_4008GG>TT	c.(4006-4008)aGG>aTT	p.R1336I	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Splice_Site_p.R1336I	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1336					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.?(6)|p.R1336S(2)|p.R784S(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TGTTTTGTTAGGGGAGAGCATA	0.342																																						uc002klm.3																			9	Unknown(6)|Substitution - Missense(3)		lung(9)		0						c.e32-1|c.(4006-4008)AGG>AGT		structural maintenance of chromosomes flexible																																				SO:0001630	splice_region_variant	23347				chromosome organization		ATP binding	g.chr18:2750347G>T|g.chr18:2750348G>T	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		Exception_encountered	18.37:g.2750347_2750348delinsTT						SMCHD1_uc002klk.3_Splice_Site|SMCHD1_uc002kll.3_Splice_Site|SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	p.R1336_splice|p.R1336S	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			32	4197	+			|1336					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Splice_Site|Missense_Mutation	SNP	ENST00000320876.6	37	c.4008_splice|c.4008G>T	CCDS45822.1																																																																																				PASS	0.342	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		Missense_Mutation	13	164|163	13	163	---	---	---	---
EMILIN2	84034	broad.mit.edu	37	18	2891883	2891883	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:2891883C>G	ENST00000254528.3	+	4	1917	c.1758C>G	c.(1756-1758)ctC>ctG	p.L586L		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	586					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.L586L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TGAAATCTCTCAACGACACGA	0.463																																						uc002kln.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1756-1758)CTC>CTG		elastin microfibril interfacer 2 precursor							55.0	53.0	54.0					18																	2891883		2203	4300	6503	SO:0001819	synonymous_variant	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2891883C>G	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1758C>G	18.37:g.2891883C>G							p.L586L	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	1917	+			586			Potential.		B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	37	c.1758C>G	CCDS11828.1																																																																																				PASS	0.463	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		15	190	15	190	---	---	---	---
LPIN2	9663	broad.mit.edu	37	18	2960699	2960699	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:2960699G>T	ENST00000261596.4	-	2	378	c.140C>A	c.(139-141)cCt>cAt	p.P47H	RP11-737O24.2_ENST00000584431.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	47	N-LIP.				cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)	p.P47H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		AACGTGAAAAGGTGAACACTG	0.488																																						uc002klo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(139-141)CCT>CAT		lipin 2							148.0	128.0	134.0					18																	2960699		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2960699G>T	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.140C>A	18.37:g.2960699G>T	ENSP00000261596:p.Pro47His						p.P47H	NM_014646	NP_055461	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	2	379	-			47			N-LIP.		A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.140C>A	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056454	0.93793	.	.	ENSG00000101577	ENST00000261596;ENST00000455369;ENST00000455221	D	0.81499	-1.5	5.74	5.74	0.90152	Lipin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93569	0.7947	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94971	0.8117	10	0.87932	D	0	-4.9216	19.9351	0.97137	0.0:0.0:1.0:0.0	.	47	Q92539	LPIN2_HUMAN	H	47;47;84	ENSP00000261596:P47H	ENSP00000261596:P47H	P	-	2	0	LPIN2	2950699	1.000000	0.71417	0.702000	0.30337	0.940000	0.58332	9.358000	0.97109	2.703000	0.92315	0.655000	0.94253	CCT		PASS	0.488	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		24	386	24	386	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3086147	3086147	+	Silent	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:3086147C>A	ENST00000356443.4	-	30	4473	c.4140G>T	c.(4138-4140)gtG>gtT	p.V1380V	MYOM1_ENST00000400569.3_Silent_p.V1380V|MYOM1_ENST00000261606.7_Silent_p.V1284V	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1380	Ig-like C2-type 4.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.V1380V(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TAATATTTGCCACCTAGGAGA	0.343																																						uc002klp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(4138-4140)GTG>GTT		myomesin 1 isoform a							114.0	99.0	104.0					18																	3086147		1828	4084	5912	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3086147C>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4140G>T	18.37:g.3086147C>A						MYOM1_uc002klq.2_Silent_p.V1284V	p.V1380V	NM_003803	NP_003794	P52179	MYOM1_HUMAN			30	4474	-			1380			Ig-like C2-type 4.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.4140G>T	CCDS45824.1																																																																																				PASS	0.343	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		14	265	14	265	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3134771	3134771	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:3134771G>A	ENST00000356443.4	-	16	2594	c.2261C>T	c.(2260-2262)tCa>tTa	p.S754L	MYOM1_ENST00000400569.3_Missense_Mutation_p.S754L|MYOM1_ENST00000261606.7_Missense_Mutation_p.S754L	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	754	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.S754L(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AACTACCACTGAGGTGTCTGT	0.488																																						uc002klp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2260-2262)TCA>TTA		myomesin 1 isoform a							108.0	104.0	105.0					18																	3134771		1878	4121	5999	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3134771G>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2261C>T	18.37:g.3134771G>A	ENSP00000348821:p.Ser754Leu					MYOM1_uc002klq.2_Missense_Mutation_p.S754L	p.S754L	NM_003803	NP_003794	P52179	MYOM1_HUMAN			16	2595	-			754			Fibronectin type-III 3.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.2261C>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753430	0.89753	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.63417	-0.04;-0.04;-0.04	5.68	5.68	0.88126	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86539	0.5957	H	0.96111	3.77	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89202	0.3558	10	0.51188	T	0.08	.	19.838	0.96666	0.0:0.0:1.0:0.0	.	754;754	P52179-2;P52179	.;MYOM1_HUMAN	L	754	ENSP00000348821:S754L;ENSP00000383413:S754L;ENSP00000261606:S754L	ENSP00000261606:S754L	S	-	2	0	MYOM1	3124771	1.000000	0.71417	0.984000	0.44739	0.596000	0.36781	9.865000	0.99609	2.694000	0.91930	0.650000	0.86243	TCA		PASS	0.488	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		16	260	16	260	---	---	---	---
DLGAP1	9229	broad.mit.edu	37	18	3502631	3502631	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:3502631G>A	ENST00000315677.3	-	12	3179	c.2584C>T	c.(2584-2586)Cat>Tat	p.H862Y	DLGAP1_ENST00000400149.3_Missense_Mutation_p.H552Y|DLGAP1_ENST00000515196.2_Missense_Mutation_p.H862Y|DLGAP1_ENST00000539435.1_Missense_Mutation_p.H570Y|DLGAP1_ENST00000581527.1_Missense_Mutation_p.H862Y|DLGAP1_ENST00000400147.2_Missense_Mutation_p.H560Y|DLGAP1_ENST00000534970.1_Missense_Mutation_p.H546Y|DLGAP1_ENST00000584874.1_Missense_Mutation_p.H862Y|DLGAP1_ENST00000400150.3_Missense_Mutation_p.H578Y|DLGAP1_ENST00000400155.1_Missense_Mutation_p.H568Y|DLGAP1_ENST00000400145.2_Missense_Mutation_p.H560Y|DLGAP1_ENST00000581699.1_Missense_Mutation_p.H568Y	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	862					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.H570Y(1)|p.H862Y(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGTCTTGGATGAGCATTAGGA	0.383																																						uc002kmf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(2584-2586)CAT>TAT		discs large homolog-associated protein 1 isoform							71.0	77.0	75.0					18																	3502631		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3502631G>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2584C>T	18.37:g.3502631G>A	ENSP00000316377:p.His862Tyr					DLGAP1_uc010wyz.1_Missense_Mutation_p.H862Y|DLGAP1_uc002kme.1_Missense_Mutation_p.H560Y|DLGAP1_uc010dkn.2_Missense_Mutation_p.H570Y|DLGAP1_uc010wyw.1_Missense_Mutation_p.H568Y|DLGAP1_uc010wyx.1_Missense_Mutation_p.H584Y|DLGAP1_uc010wyy.1_Missense_Mutation_p.H546Y|DLGAP1_uc002kmg.2_Missense_Mutation_p.H560Y	p.H862Y	NM_004746	NP_004737	O14490	DLGP1_HUMAN			9	2651	-		Colorectal(8;0.0257)	862					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.2584C>T	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346333	0.61073	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.30541	0.0768	L	0.39898	1.24	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.99;0.997;0.99;0.998;0.997;0.997	D;D;D;D;D;D;D;P	0.83275	0.996;0.996;0.949;0.991;0.949;0.994;0.925;0.877	T	0.01795	-1.1272	10	0.02654	T	1	-17.8533	19.4774	0.94994	0.0:0.0:1.0:0.0	.	862;546;558;568;570;560;862;560	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	Y	862;560;578;552;568;546;570;560;862	ENSP00000316377:H862Y;ENSP00000383011:H560Y;ENSP00000383014:H578Y;ENSP00000383013:H552Y;ENSP00000383019:H568Y;ENSP00000437817:H546Y;ENSP00000446312:H570Y;ENSP00000383010:H560Y;ENSP00000445973:H862Y	ENSP00000316377:H862Y	H	-	1	0	DLGAP1	3492631	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.823000	0.86660	2.673000	0.90976	0.557000	0.71058	CAT		PASS	0.383	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			36	367	36	367	---	---	---	---
DLGAP1	9229	broad.mit.edu	37	18	3879723	3879723	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:3879723C>T	ENST00000315677.3	-	4	941	c.346G>A	c.(346-348)Gat>Aat	p.D116N	DLGAP1_ENST00000581527.1_Missense_Mutation_p.D116N|DLGAP1_ENST00000515196.2_Missense_Mutation_p.D116N|DLGAP1_ENST00000584874.1_Missense_Mutation_p.D116N|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	116					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.D116N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TGATAGCCATCGCGGCTGAGT	0.687																																						uc002kmf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(346-348)GAT>AAT		discs large homolog-associated protein 1 isoform							45.0	51.0	49.0					18																	3879723		2203	4298	6501	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879723C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.346G>A	18.37:g.3879723C>T	ENSP00000316377:p.Asp116Asn					DLGAP1_uc010wyz.1_Missense_Mutation_p.D116N|DLGAP1_uc002kmk.2_Missense_Mutation_p.D116N|uc002kml.1_Intron	p.D116N	NM_004746	NP_004737	O14490	DLGP1_HUMAN			1	413	-		Colorectal(8;0.0257)	116					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.346G>A	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988058	0.93106	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.17528	2.27;2.27	5.53	5.53	0.82687	.	0.052433	0.85682	D	0.000000	T	0.47563	0.1452	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	0.976;0.999;1.0	P;P;D	0.69654	0.51;0.864;0.965	T	0.51810	-0.8658	10	0.87932	D	0	-15.9957	19.4529	0.94875	0.0:1.0:0.0:0.0	.	116;116;116	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	N	116	ENSP00000316377:D116N;ENSP00000445973:D116N	ENSP00000316377:D116N	D	-	1	0	DLGAP1	3869723	1.000000	0.71417	0.976000	0.42696	0.874000	0.50279	7.788000	0.85771	2.595000	0.87683	0.655000	0.94253	GAT		PASS	0.687	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			12	132	12	132	---	---	---	---
DLGAP1	9229	broad.mit.edu	37	18	3879819	3879819	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:3879819C>T	ENST00000315677.3	-	4	845	c.250G>A	c.(250-252)Gag>Aag	p.E84K	DLGAP1_ENST00000581527.1_Missense_Mutation_p.E84K|DLGAP1_ENST00000515196.2_Missense_Mutation_p.E84K|DLGAP1_ENST00000584874.1_Missense_Mutation_p.E84K|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	84					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.E84K(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AGGGCACACTCGTCCTTCAGC	0.682																																						uc002kmf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(250-252)GAG>AAG		discs large homolog-associated protein 1 isoform							51.0	51.0	51.0					18																	3879819		2202	4299	6501	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879819C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.250G>A	18.37:g.3879819C>T	ENSP00000316377:p.Glu84Lys					DLGAP1_uc010wyz.1_Missense_Mutation_p.E84K|DLGAP1_uc002kmk.2_Missense_Mutation_p.E84K|uc002kml.1_Intron	p.E84K	NM_004746	NP_004737	O14490	DLGP1_HUMAN			1	317	-		Colorectal(8;0.0257)	84					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.250G>A	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586336	0.86851	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.23147	1.92;1.92	5.8	5.8	0.92144	.	0.053292	0.85682	D	0.000000	T	0.46268	0.1384	M	0.77103	2.36	0.80722	D	1	D;D;D	0.65815	0.991;0.995;0.985	B;P;B	0.51385	0.373;0.668;0.439	T	0.47983	-0.9074	10	0.66056	D	0.02	-20.7684	20.0706	0.97721	0.0:1.0:0.0:0.0	.	84;84;84	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	K	84	ENSP00000316377:E84K;ENSP00000445973:E84K	ENSP00000316377:E84K	E	-	1	0	DLGAP1	3869819	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.998000	0.70653	2.744000	0.94065	0.655000	0.94253	GAG		PASS	0.682	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			13	282	13	282	---	---	---	---
DLGAP1	9229	broad.mit.edu	37	18	3879831	3879831	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:3879831C>G	ENST00000315677.3	-	4	833	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	DLGAP1_ENST00000581527.1_Missense_Mutation_p.E80Q|DLGAP1_ENST00000515196.2_Missense_Mutation_p.E80Q|DLGAP1_ENST00000584874.1_Missense_Mutation_p.E80Q|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	80					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.E80Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TCCTTCAGCTCTTGCTGCGAG	0.677																																						uc002kmf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(238-240)GAG>CAG		discs large homolog-associated protein 1 isoform							51.0	52.0	51.0					18																	3879831		2203	4299	6502	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879831C>G	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.238G>C	18.37:g.3879831C>G	ENSP00000316377:p.Glu80Gln					DLGAP1_uc010wyz.1_Missense_Mutation_p.E80Q|DLGAP1_uc002kmk.2_Missense_Mutation_p.E80Q|uc002kml.1_Intron	p.E80Q	NM_004746	NP_004737	O14490	DLGP1_HUMAN			1	305	-		Colorectal(8;0.0257)	80					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.238G>C	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525571	0.85600	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.33216	1.42;1.42	5.71	5.71	0.89125	.	0.050379	0.85682	D	0.000000	T	0.54367	0.1854	M	0.75264	2.295	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.992	P;P;P	0.60345	0.638;0.856;0.873	T	0.49551	-0.8928	10	0.38643	T	0.18	-32.2309	19.8546	0.96752	0.0:1.0:0.0:0.0	.	80;80;80	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	Q	80	ENSP00000316377:E80Q;ENSP00000445973:E80Q	ENSP00000316377:E80Q	E	-	1	0	DLGAP1	3869831	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.596000	0.82721	2.697000	0.92050	0.655000	0.94253	GAG		PASS	0.677	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			12	279	12	279	---	---	---	---
DLGAP1	9229	broad.mit.edu	37	18	3879957	3879957	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:3879957C>T	ENST00000315677.3	-	4	707	c.112G>A	c.(112-114)Gag>Aag	p.E38K	DLGAP1_ENST00000581527.1_Missense_Mutation_p.E38K|DLGAP1_ENST00000515196.2_Missense_Mutation_p.E38K|DLGAP1_ENST00000584874.1_Missense_Mutation_p.E38K|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	38					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.E38K(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGGTGGTGCTCCACTGGGCTC	0.672																																						uc002kmf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(112-114)GAG>AAG		discs large homolog-associated protein 1 isoform							57.0	55.0	56.0					18																	3879957		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879957C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.112G>A	18.37:g.3879957C>T	ENSP00000316377:p.Glu38Lys					DLGAP1_uc010wyz.1_Missense_Mutation_p.E38K|DLGAP1_uc002kmk.2_Missense_Mutation_p.E38K|uc002kml.1_Intron	p.E38K	NM_004746	NP_004737	O14490	DLGP1_HUMAN			1	179	-		Colorectal(8;0.0257)	38					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.112G>A	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293266	0.80914	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.12879	2.64;2.64	5.8	5.8	0.92144	.	0.427833	0.28125	N	0.016515	T	0.20981	0.0505	M	0.66297	2.02	0.52501	D	0.999958	P;B;B	0.34562	0.457;0.277;0.262	B;B;B	0.32090	0.081;0.079;0.14	T	0.01591	-1.1317	10	0.72032	D	0.01	-10.8243	20.0706	0.97721	0.0:1.0:0.0:0.0	.	38;38;38	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	K	38	ENSP00000316377:E38K;ENSP00000445973:E38K	ENSP00000316377:E38K	E	-	1	0	DLGAP1	3869957	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.854000	0.62918	2.744000	0.94065	0.655000	0.94253	GAG		PASS	0.672	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			19	263	19	263	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5395691	5395691	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:5395691C>T	ENST00000341928.2	-	20	3329	c.2989G>A	c.(2989-2991)Gat>Aat	p.D997N	EPB41L3_ENST00000540638.2_Missense_Mutation_p.D775N|EPB41L3_ENST00000544123.1_Missense_Mutation_p.D828N|EPB41L3_ENST00000542146.1_Missense_Mutation_p.D302N|EPB41L3_ENST00000400111.3_Missense_Mutation_p.D775N|EPB41L3_ENST00000342933.3_Missense_Mutation_p.D997N|EPB41L3_ENST00000427684.2_Missense_Mutation_p.D294N|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	997	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.D997N(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGCTCCAGATCTGTGCCTGGA	0.512																																						uc002kmt.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(2989-2991)GAT>AAT		erythrocyte membrane protein band 4.1-like 3							272.0	210.0	231.0					18																	5395691		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5395691C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2989G>A	18.37:g.5395691C>T	ENSP00000343158:p.Asp997Asn					EPB41L3_uc010wzh.1_Missense_Mutation_p.D828N|EPB41L3_uc002kmu.1_Missense_Mutation_p.D775N|EPB41L3_uc010dkq.1_Missense_Mutation_p.D666N|EPB41L3_uc002kms.1_Missense_Mutation_p.D232N|EPB41L3_uc010wze.1_Missense_Mutation_p.D302N|EPB41L3_uc010wzf.1_Missense_Mutation_p.D294N|EPB41L3_uc010wzg.1_Missense_Mutation_p.D269N|EPB41L3_uc010dkr.2_Missense_Mutation_p.D389N	p.D997N	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			20	3075	-			997			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2989G>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846913	0.91277	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.95	5.95	0.96441	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86213	0.5879	L	0.52126	1.63	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0;0.963;1.0;1.0	D;D;D;D;D;P;D;D	0.97110	0.994;0.999;0.994;0.99;0.999;0.879;1.0;0.997	D	0.84714	0.0736	10	0.48119	T	0.1	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	828;294;302;389;666;775;997;232	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	N	997;666;828;666;294;302;997;775	ENSP00000343158:D997N;ENSP00000441174:D828N;ENSP00000392195:D294N;ENSP00000442233:D302N;ENSP00000341138:D997N;ENSP00000382981:D775N	ENSP00000343158:D997N	D	-	1	0	EPB41L3	5385691	1.000000	0.71417	0.851000	0.33527	0.477000	0.33069	7.724000	0.84798	2.824000	0.97209	0.655000	0.94253	GAT		PASS	0.512	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		59	415	59	415	---	---	---	---
ARHGAP28	79822	broad.mit.edu	37	18	6859846	6859846	+	Missense_Mutation	SNP	G	G	T	rs147162571		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:6859846G>T	ENST00000383472.4	+	5	780	c.676G>T	c.(676-678)Gca>Tca	p.A226S	ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A67S|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A62S|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A174S|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.A67S|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A67S|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A226S|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A49S			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	226					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.A226S(1)|p.A67S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CCTGTCTGACGCATCCCAGGA	0.428																																						uc010wzi.1																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(145-147)GCA>TCA		SubName: Full=Putative uncharacterized protein ARHGAP28;							240.0	231.0	234.0					18																	6859846		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6859846G>T	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.676G>T	18.37:g.6859846G>T	ENSP00000372964:p.Ala226Ser					ARHGAP28_uc002knc.2_Missense_Mutation_p.A174S|ARHGAP28_uc002knd.2_Missense_Mutation_p.A67S|ARHGAP28_uc002kne.2_Missense_Mutation_p.A67S|ARHGAP28_uc002knf.2_Missense_Mutation_p.A58S	p.A49S			B4DXL2	B4DXL2_HUMAN			4	383	+		Colorectal(10;0.168)	49					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.145G>T		.	.	.	.	.	.	.	.	.	.	G	0.031	-1.332216	0.01298	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T;T	0.21932	1.98;1.98;3.29;3.29;3.29;3.21;3.15	4.32	2.56	0.30785	.	0.898120	0.09769	N	0.758200	T	0.08223	0.0205	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.20887	0.0;0.049;0.002;0.002	B;B;B;B	0.20384	0.0;0.029;0.0;0.001	T	0.39396	-0.9616	10	0.09590	T	0.72	.	7.0046	0.24830	0.2031:0.0:0.7969:0.0	.	226;58;67;174	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	S	226;174;67;62;67;67;58;49	ENSP00000382963:A226S;ENSP00000262227:A174S;ENSP00000392660:A67S;ENSP00000437262:A62S;ENSP00000313506:A67S;ENSP00000406907:A67S;ENSP00000435990:A58S	ENSP00000262227:A174S	A	+	1	0	ARHGAP28	6849846	0.066000	0.20996	0.035000	0.18076	0.011000	0.07611	2.301000	0.43628	0.791000	0.33826	-0.991000	0.02546	GCA		PASS	0.428	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		62	395	62	395	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6977865	6977865	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:6977865C>G	ENST00000389658.3	-	44	6299	c.6206G>C	c.(6205-6207)aGa>aCa	p.R2069T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2069	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R2069T(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TTTGACTTTTCTTCCAGCCAA	0.398																																						uc002knm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(6205-6207)AGA>ACA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						49.0	48.0	49.0					18																	6977865		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6977865C>G	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6206G>C	18.37:g.6977865C>G	ENSP00000374309:p.Arg2069Thr					LAMA1_uc010wzj.1_Missense_Mutation_p.R1545T	p.R2069T	NM_005559	NP_005550	P25391	LAMA1_HUMAN			44	6300	-		Colorectal(10;0.172)	2069			Domain II and I.			Missense_Mutation	SNP	ENST00000389658.3	37	c.6206G>C	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	2.933	-0.220572	0.06061	.	.	ENSG00000101680	ENST00000389658	T	0.45668	0.89	5.1	4.21	0.49690	Laminin II (1);	0.280678	0.33610	N	0.004722	T	0.28001	0.0690	L	0.39898	1.24	0.34372	D	0.692201	P	0.36392	0.551	B	0.32090	0.14	T	0.30794	-0.9966	10	0.18276	T	0.48	.	9.1625	0.37032	0.0:0.7869:0.0:0.2131	.	2069	P25391	LAMA1_HUMAN	T	2069	ENSP00000374309:R2069T	ENSP00000374309:R2069T	R	-	2	0	LAMA1	6967865	0.984000	0.35163	1.000000	0.80357	0.972000	0.66771	0.313000	0.19415	2.522000	0.85027	0.655000	0.94253	AGA		PASS	0.398	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		9	56	9	56	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	7037697	7037697	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:7037697G>C	ENST00000389658.3	-	12	1710	c.1617C>G	c.(1615-1617)atC>atG	p.I539M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	539	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.I539M(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCTGAGACGGGATCTTCCTGG	0.507																																						uc002knm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(1615-1617)ATC>ATG		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						99.0	83.0	88.0					18																	7037697		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7037697G>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1617C>G	18.37:g.7037697G>C	ENSP00000374309:p.Ile539Met					LAMA1_uc010wzj.1_Missense_Mutation_p.I15M	p.I539M	NM_005559	NP_005550	P25391	LAMA1_HUMAN			12	1711	-		Colorectal(10;0.172)	539			Laminin IV type A 1.			Missense_Mutation	SNP	ENST00000389658.3	37	c.1617C>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	1.415	-0.574548	0.03882	.	.	ENSG00000101680	ENST00000389658	T	0.19250	2.16	5.43	2.63	0.31362	Laminin B type IV (1);	0.407679	0.24061	N	0.041901	T	0.13628	0.0330	L	0.40543	1.245	0.09310	N	1	B	0.22480	0.07	B	0.18263	0.021	T	0.26018	-1.0115	10	0.33141	T	0.24	.	3.2011	0.06650	0.2053:0.2248:0.4647:0.1053	.	539	P25391	LAMA1_HUMAN	M	539	ENSP00000374309:I539M	ENSP00000374309:I539M	I	-	3	3	LAMA1	7027697	0.217000	0.23597	0.031000	0.17742	0.003000	0.03518	0.508000	0.22692	0.017000	0.15025	-1.134000	0.01955	ATC		PASS	0.507	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		22	135	22	135	---	---	---	---
ANKRD12	23253	broad.mit.edu	37	18	9258259	9258259	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:9258259A>C	ENST00000262126.4	+	9	5234	c.4994A>C	c.(4993-4995)aAt>aCt	p.N1665T	ANKRD12_ENST00000400020.3_Missense_Mutation_p.N1642T|RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000383440.2_Missense_Mutation_p.N1642T	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1665						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N1665T(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						GGAAACCTAAATGAACAAGAT	0.348																																						uc002knv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(4993-4995)AAT>ACT		ankyrin repeat domain 12 isoform 1							50.0	42.0	45.0					18																	9258259		2203	4299	6502	SO:0001583	missense	23253					nucleus		g.chr18:9258259A>C	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.4994A>C	18.37:g.9258259A>C	ENSP00000262126:p.Asn1665Thr					ANKRD12_uc002knw.2_Missense_Mutation_p.N1642T|ANKRD12_uc002knx.2_Missense_Mutation_p.N1642T|ANKRD12_uc010dkx.1_Missense_Mutation_p.N1372T	p.N1665T	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			9	5251	+			1665					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.4994A>C	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	A	9.401	1.078002	0.20227	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.50548	0.74;0.74	5.29	-1.43	0.08884	.	0.763220	0.12673	N	0.448597	T	0.26085	0.0636	L	0.27053	0.805	0.20703	N	0.999869	B;B	0.10296	0.002;0.003	B;B	0.09377	0.004;0.002	T	0.23084	-1.0198	10	0.13108	T	0.6	-4.8918	5.598	0.17337	0.4522:0.2494:0.2985:0.0	.	1642;1665	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	T	1642;1665	ENSP00000372932:N1642T;ENSP00000262126:N1665T	ENSP00000262126:N1665T	N	+	2	0	ANKRD12	9248259	0.018000	0.18449	0.337000	0.25536	0.896000	0.52359	0.063000	0.14410	-0.168000	0.10853	0.533000	0.62120	AAT		PASS	0.348	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		13	97	13	97	---	---	---	---
ANKRD12	23253	broad.mit.edu	37	18	9263833	9263833	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:9263833C>T	ENST00000262126.4	+	10	5950	c.5710C>T	c.(5710-5712)Cga>Tga	p.R1904*	ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.R1881*|ANKRD12_ENST00000383440.2_Nonsense_Mutation_p.R1881*	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1904						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R1904*(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						AGAGCTTTTTCGACAACAGGA	0.299																																						uc002knv.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(5710-5712)CGA>TGA		ankyrin repeat domain 12 isoform 1							64.0	63.0	64.0					18																	9263833		2203	4298	6501	SO:0001587	stop_gained	23253					nucleus		g.chr18:9263833C>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	ENST00000262126.4:c.5710C>T	18.37:g.9263833C>T	ENSP00000262126:p.Arg1904*					ANKRD12_uc002knw.2_Nonsense_Mutation_p.R1881*|ANKRD12_uc002knx.2_Nonsense_Mutation_p.R1881*	p.R1904*	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			10	5967	+			1904					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Nonsense_Mutation	SNP	ENST00000262126.4	37	c.5710C>T	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	47	13.684085	0.99757	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	.	.	.	5.87	5.87	0.94306	.	0.239360	0.36234	N	0.002716	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-4.0662	14.8735	0.70478	0.1772:0.8228:0.0:0.0	.	.	.	.	X	1881;1904	.	ENSP00000262126:R1904X	R	+	1	2	ANKRD12	9253833	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.416000	0.66417	2.785000	0.95823	0.655000	0.94253	CGA		PASS	0.299	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		26	174	26	174	---	---	---	---
LDLRAD4	753	broad.mit.edu	37	18	13438368	13438368	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:13438368C>T	ENST00000359446.5	+	3	634	c.166C>T	c.(166-168)Ccg>Tcg	p.P56S	LDLRAD4_ENST00000399848.3_Missense_Mutation_p.P56S|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.P56S	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	56					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)	p.P56S(1)									GCACCCGCCTCCGGGCATCTT	0.542																																						uc002ksa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(166-168)CCG>TCG		hypothetical protein LOC753 isoform alpha 1							83.0	81.0	82.0					18																	13438368		2203	4300	6503	SO:0001583	missense	753					integral to membrane|plasma membrane		g.chr18:13438368C>T	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.166C>T	18.37:g.13438368C>T	ENSP00000352420:p.Pro56Ser					C18orf1_uc002ksb.2_Missense_Mutation_p.P56S	p.P56S	NM_181481	NP_852146	O15165	CR001_HUMAN		READ - Rectum adenocarcinoma(73;0.0642)	4	834	+			56			Extracellular (Potential).		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.166C>T	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709287	0.48517	.	.	ENSG00000168675	ENST00000361205;ENST00000399848	T;T	0.25749	1.78;1.78	5.22	4.34	0.51931	.	0.000000	0.64402	D	0.000012	T	0.43033	0.1229	L	0.45698	1.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.969	T	0.17198	-1.0377	10	0.34782	T	0.22	0.2341	15.0919	0.72201	0.1428:0.8572:0.0:0.0	.	56;56	O15165-2;O15165	.;CR001_HUMAN	S	56	ENSP00000354753:P56S;ENSP00000382741:P56S	ENSP00000354753:P56S	P	+	1	0	C18orf1	13428368	1.000000	0.71417	0.729000	0.30791	0.926000	0.56050	7.003000	0.76310	1.182000	0.42928	0.655000	0.94253	CCG		PASS	0.542	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		32	257	32	257	---	---	---	---
LDLRAD4	753	broad.mit.edu	37	18	13438379	13438379	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:13438379C>T	ENST00000359446.5	+	3	645	c.177C>T	c.(175-177)ttC>ttT	p.F59F	LDLRAD4_ENST00000399848.3_Silent_p.F59F|LDLRAD4_ENST00000361205.4_Silent_p.F59F	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	59					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)	p.F59F(1)									CGGGCATCTTCAACTGTAAGT	0.547																																						uc002ksa.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(175-177)TTC>TTT		hypothetical protein LOC753 isoform alpha 1							74.0	72.0	73.0					18																	13438379		2203	4300	6503	SO:0001819	synonymous_variant	753					integral to membrane|plasma membrane		g.chr18:13438379C>T	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.177C>T	18.37:g.13438379C>T						C18orf1_uc002ksb.2_Silent_p.F59F	p.F59F	NM_181481	NP_852146	O15165	CR001_HUMAN		READ - Rectum adenocarcinoma(73;0.0642)	4	845	+			59			Extracellular (Potential).		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Silent	SNP	ENST00000359446.5	37	c.177C>T	CCDS32793.1																																																																																				PASS	0.547	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		41	247	41	247	---	---	---	---
LDLRAD4	753	broad.mit.edu	37	18	13645550	13645550	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:13645550G>A	ENST00000359446.5	+	6	1283	c.815G>A	c.(814-816)cGc>cAc	p.R272H	LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R254H|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R217H|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R195H|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R235H|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.R272H|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.R174H	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	272					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)	p.R235H(1)|p.R272H(1)									CATCACCAGCGCAGCAACGCA	0.587																																						uc002ksa.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(814-816)CGC>CAC		hypothetical protein LOC753 isoform alpha 1							48.0	52.0	51.0					18																	13645550		2203	4300	6503	SO:0001583	missense	753					integral to membrane|plasma membrane		g.chr18:13645550G>A	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.815G>A	18.37:g.13645550G>A	ENSP00000352420:p.Arg272His					C18orf1_uc002ksb.2_Missense_Mutation_p.R254H|C18orf1_uc002kse.2_Missense_Mutation_p.R235H|C18orf1_uc002ksf.2_Missense_Mutation_p.R217H|C18orf1_uc002ksg.1_Missense_Mutation_p.R195H|C18orf1_uc002ksh.1_Missense_Mutation_p.R214H|C18orf1_uc002ksi.1_Missense_Mutation_p.R196H	p.R272H	NM_181481	NP_852146	O15165	CR001_HUMAN		READ - Rectum adenocarcinoma(73;0.0642)	7	1483	+			272			Cytoplasmic (Potential).		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.815G>A	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	G	0.139	-1.104112	0.01828	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.24723	1.84;1.88	4.85	1.66	0.24008	.	0.145291	0.64402	N	0.000007	T	0.03959	0.0111	N	0.00119	-2.075	0.27305	N	0.957464	B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.0;0.0	B;B;B;B;B;B	0.04013	0.0;0.001;0.0;0.001;0.0;0.0	T	0.43228	-0.9404	10	0.02654	T	1	-2.0649	8.8036	0.34923	0.8625:0.0:0.1375:0.0	.	196;214;217;235;254;272	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	H	272;254;235;217;214;196	ENSP00000354753:R272H;ENSP00000382741:R254H	ENSP00000352420:R235H	R	+	2	0	C18orf1	13635550	1.000000	0.71417	0.991000	0.47740	0.182000	0.23217	5.188000	0.65093	0.122000	0.18314	0.655000	0.94253	CGC		PASS	0.587	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		4	161	4	161	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31323250	31323250	+	Silent	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:31323250T>C	ENST00000269197.5	+	12	3438	c.3438T>C	c.(3436-3438)tcT>tcC	p.S1146S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1146					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.S853S(1)|p.S1146S(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAGTCTCTTCTACCCCTGAAA	0.507																																						uc010dmg.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(3436-3438)TCT>TCC		additional sex combs like 3							40.0	39.0	39.0					18																	31323250		1880	4108	5988	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323250T>C	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3438T>C	18.37:g.31323250T>C						ASXL3_uc002kxq.2_Silent_p.S853S	p.S1146S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	3493	+			1146					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.3438T>C	CCDS45847.1																																																																																				PASS	0.507	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			9	38	9	38	---	---	---	---
ME2	4200	broad.mit.edu	37	18	48473422	48473422	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:48473422C>G	ENST00000321341.5	+	16	1895	c.1623C>G	c.(1621-1623)ttC>ttG	p.F541L	ME2_ENST00000382927.3_3'UTR|ME2_ENST00000585680.1_3'UTR	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	541					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.F541L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		AAATGGCTTTCCGATACCCAG	0.383																																						uc002ley.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1621-1623)TTC>TTG		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						132.0	140.0	138.0					18																	48473422		2203	4300	6503	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48473422C>G	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1623C>G	18.37:g.48473422C>G	ENSP00000321070:p.Phe541Leu					ME2_uc010dpd.2_3'UTR	p.F541L	NM_002396	NP_002387	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	16	1879	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	541					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.1623C>G	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135981	0.56936	.	.	ENSG00000082212	ENST00000321341	T	0.40476	1.03	5.79	4.92	0.64577	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	L	0.33485	1.01	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.06752	-1.0809	10	0.26408	T	0.33	-13.0033	14.0085	0.64481	0.0:0.9259:0.0:0.0741	.	541	P23368	MAOM_HUMAN	L	541	ENSP00000321070:F541L	ENSP00000321070:F541L	F	+	3	2	ME2	46727420	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.527000	0.45615	1.462000	0.47948	0.555000	0.69702	TTC		PASS	0.383	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		23	319	23	319	---	---	---	---
TCF4	6925	broad.mit.edu	37	18	52899786	52899786	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:52899786C>G	ENST00000356073.4	-	17	2214	c.1603G>C	c.(1603-1605)Gat>Cat	p.D535H	TCF4_ENST00000457482.3_Missense_Mutation_p.D375H|TCF4_ENST00000544241.2_Missense_Mutation_p.D464H|TCF4_ENST00000564999.1_Missense_Mutation_p.D535H|TCF4_ENST00000570287.2_Missense_Mutation_p.D375H|TCF4_ENST00000567880.1_Missense_Mutation_p.D475H|TCF4_ENST00000398339.1_Missense_Mutation_p.D637H|TCF4_ENST00000354452.3_Missense_Mutation_p.D535H|TCF4_ENST00000568740.1_Missense_Mutation_p.D510H|TCF4_ENST00000566279.1_Missense_Mutation_p.D475H|TCF4_ENST00000570177.2_Missense_Mutation_p.D405H|TCF4_ENST00000565018.2_Missense_Mutation_p.D535H|TCF4_ENST00000540999.1_Missense_Mutation_p.D511H|TCF4_ENST00000566286.1_Missense_Mutation_p.D532H|TCF4_ENST00000537578.1_Missense_Mutation_p.D511H|TCF4_ENST00000537856.3_Missense_Mutation_p.D405H|TCF4_ENST00000561992.1_Missense_Mutation_p.D405H|TCF4_ENST00000564403.2_Missense_Mutation_p.D541H|TCF4_ENST00000568673.1_Missense_Mutation_p.D511H|TCF4_ENST00000561831.3_Missense_Mutation_p.D375H|TCF4_ENST00000564228.1_Missense_Mutation_p.D464H|TCF4_ENST00000543082.1_Missense_Mutation_p.D493H	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	535			D -> G (in PTHS; loss of function; also expressed in the nucleus with a pattern indistinguishable from the wild-type; does not have a major impact on homodimer formation; affects transcriptional activity in a context-dependent manner). {ECO:0000269|PubMed:19235238}.		DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)	p.D637H(1)|p.D535H(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TTGTCGTCATCTAATTTCTTG	0.413																																						uc002lfz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(1603-1605)GAT>CAT		transcription factor 4 isoform b							150.0	122.0	131.0					18																	52899786		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52899786C>G	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1603G>C	18.37:g.52899786C>G	ENSP00000348374:p.Asp535His					TCF4_uc002lfw.3_Missense_Mutation_p.D375H|TCF4_uc010xdu.1_Missense_Mutation_p.D405H|TCF4_uc010xdv.1_Missense_Mutation_p.D405H|TCF4_uc002lfx.2_Missense_Mutation_p.D464H|TCF4_uc010xdw.1_Missense_Mutation_p.D405H|TCF4_uc002lfy.2_Missense_Mutation_p.D493H|TCF4_uc010xdx.1_Missense_Mutation_p.D511H|TCF4_uc010dph.1_Missense_Mutation_p.D535H|TCF4_uc010xdy.1_Missense_Mutation_p.D511H|TCF4_uc002lga.2_Missense_Mutation_p.D637H|TCF4_uc002lgb.1_Missense_Mutation_p.D375H|TCF4_uc010dpi.2_Missense_Mutation_p.D541H|TCF4_uc002lfv.2_Missense_Mutation_p.D318H	p.D535H	NM_003199	NP_003190	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	17	2215	-			535		D -> G (in PTHS; loss of function).			B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.1603G>C	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047031	0.75846	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.19669	2.44;2.14;2.4;2.39;2.4;2.4;2.41;2.13;2.41	5.35	5.35	0.76521	.	0.236840	0.42172	D	0.000758	T	0.43590	0.1254	L	0.54323	1.7	0.80722	D	1	P;D;B;D;D;B;B;D;D	0.89917	0.848;1.0;0.268;1.0;0.999;0.212;0.378;1.0;1.0	B;D;B;D;D;B;B;D;D	0.83275	0.275;0.996;0.111;0.996;0.99;0.087;0.087;0.996;0.98	T	0.15636	-1.0430	10	0.48119	T	0.1	-9.4847	17.8399	0.88712	0.0:1.0:0.0:0.0	.	511;535;375;637;535;493;464;375;532	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	H	535;375;535;493;511;511;464;405;637	ENSP00000346440:D535H;ENSP00000409447:D375H;ENSP00000348374:D535H;ENSP00000439656:D493H;ENSP00000445202:D511H;ENSP00000440731:D511H;ENSP00000441562:D464H;ENSP00000439827:D405H;ENSP00000381382:D637H	ENSP00000346440:D535H	D	-	1	0	TCF4	51050784	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.514000	0.81750	2.510000	0.84645	0.467000	0.42956	GAT		PASS	0.413	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		6	116	6	116	---	---	---	---
CDH19	28513	broad.mit.edu	37	18	64197089	64197089	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:64197089G>T	ENST00000540086.1	-	9	1697	c.1451C>A	c.(1450-1452)tCt>tAt	p.S484Y	CDH19_ENST00000262150.2_Missense_Mutation_p.S484Y	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	593	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S484Y(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TACCTGACCAGAGCCTGCATT	0.303																																						uc002lkc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1450-1452)TCT>TAT		cadherin 19, type 2 preproprotein							110.0	109.0	109.0					18																	64197089		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64197089G>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1451C>A	18.37:g.64197089G>T	ENSP00000439593:p.Ser484Tyr					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.S484Y	p.S484Y	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			9	1589	-		Esophageal squamous(42;0.0132)	484			Cadherin 5.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.1451C>A	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	G	8.067	0.769340	0.15983	.	.	ENSG00000071991	ENST00000262150;ENST00000540086	T;T	0.59364	0.27;0.47	5.53	3.71	0.42584	Cadherin (3);Cadherin-like (1);	0.586689	0.18210	N	0.148201	T	0.48909	0.1526	L	0.49126	1.545	0.22424	N	0.999112	B;B	0.13145	0.007;0.003	B;B	0.19666	0.009;0.026	T	0.49031	-0.8981	10	0.87932	D	0	.	6.0873	0.19975	0.1574:0.0:0.6897:0.1529	.	484;484	F5H1K0;Q9H159	.;CAD19_HUMAN	Y	484	ENSP00000262150:S484Y;ENSP00000439593:S484Y	ENSP00000262150:S484Y	S	-	2	0	CDH19	62348069	0.009000	0.17119	0.536000	0.28039	0.896000	0.52359	0.412000	0.21131	0.676000	0.31285	-0.145000	0.13849	TCT		PASS	0.303	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		42	143	42	143	---	---	---	---
NETO1	81832	broad.mit.edu	37	18	70417456	70417456	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:70417456T>A	ENST00000327305.6	-	9	2039	c.1382A>T	c.(1381-1383)cAg>cTg	p.Q461L	NETO1_ENST00000583169.1_Missense_Mutation_p.Q461L|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000299430.2_Missense_Mutation_p.Q460L	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	461					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.Q461L(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TTTTCCTGGCTGTGTGGGCAT	0.483																																						uc002lkw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1381-1383)CAG>CTG		neuropilin- and tolloid-like protein 1 isoform 3							208.0	184.0	192.0					18																	70417456		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417456T>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1382A>T	18.37:g.70417456T>A	ENSP00000313088:p.Gln461Leu					NETO1_uc002lkx.1_Missense_Mutation_p.Q460L|NETO1_uc002lky.1_Missense_Mutation_p.Q461L	p.Q461L	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	1666	-		Esophageal squamous(42;0.129)	461			Cytoplasmic (Potential).		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.1382A>T	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.167794	0.38315	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.22743	1.94;1.94	5.76	1.88	0.25563	.	0.000000	0.56097	D	0.000024	T	0.16300	0.0392	L	0.44542	1.39	0.80722	D	1	B;B	0.15473	0.013;0.008	B;B	0.19391	0.025;0.011	T	0.06734	-1.0810	10	0.30078	T	0.28	-34.0953	8.4958	0.33127	0.0:0.0644:0.2428:0.6928	.	460;461	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	L	461;460	ENSP00000313088:Q461L;ENSP00000299430:Q460L	ENSP00000299430:Q460L	Q	-	2	0	NETO1	68568436	1.000000	0.71417	0.842000	0.33263	0.892000	0.51952	2.564000	0.45931	0.412000	0.25729	0.377000	0.23210	CAG		PASS	0.483	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		4	90	4	90	---	---	---	---
FBXO15	201456	broad.mit.edu	37	18	71796839	71796839	+	Silent	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:71796839A>G	ENST00000419743.2	-	5	665	c.586T>C	c.(586-588)Tta>Cta	p.L196L	FBXO15_ENST00000269500.5_Silent_p.L120L	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	196						SCF ubiquitin ligase complex (GO:0019005)		p.L120L(1)|p.L196L(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GCCCAACCTAAACCAAATATT	0.303																																						uc002lle.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(358-360)TTA>CTA		F-box protein 15 isoform 1							52.0	54.0	53.0					18																	71796839		2203	4298	6501	SO:0001819	synonymous_variant	201456							g.chr18:71796839A>G	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.586T>C	18.37:g.71796839A>G						FBXO15_uc002llf.2_Silent_p.L196L	p.L120L	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	5	694	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	120					B3KST3	Silent	SNP	ENST00000419743.2	37	c.358T>C	CCDS45884.1																																																																																				PASS	0.303	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		21	55	21	55	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74635112	74635112	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:74635112C>G	ENST00000253159.8	+	21	3835	c.3637C>G	c.(3637-3639)Cat>Gat	p.H1213D	ZNF236_ENST00000320610.9_Missense_Mutation_p.H1215D	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1213					cellular response to glucose stimulus (GO:0071333)|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.H1213D(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCTCGATTGTCATGTGAAGAC	0.383																																						uc002lmi.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(3637-3639)CAT>GAT		zinc finger protein 236							98.0	95.0	96.0					18																	74635112		2016	4208	6224	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74635112C>G	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3637C>G	18.37:g.74635112C>G	ENSP00000253159:p.His1213Asp					ZNF236_uc002lmj.2_RNA	p.H1213D	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	21	3835	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1213			C2H2-type 23.		B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.3637C>G	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306022	0.60305	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.34859	1.34;1.34	5.34	5.34	0.76211	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.75287	0.3829	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84991	0.0894	10	0.87932	D	0	.	19.0724	0.93145	0.0:1.0:0.0:0.0	.	1213	Q9UL36	ZN236_HUMAN	D	1213	ENSP00000253159:H1213D;ENSP00000444524:H1213D	ENSP00000253159:H1213D	H	+	1	0	ZNF236	72764100	1.000000	0.71417	1.000000	0.80357	0.118000	0.20060	7.534000	0.82004	2.498000	0.84270	0.650000	0.86243	CAT		PASS	0.383	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			13	59	13	59	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74639006	74639006	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:74639006G>C	ENST00000253159.8	+	23	4233	c.4035G>C	c.(4033-4035)ctG>ctC	p.L1345L	ZNF236_ENST00000320610.9_Silent_p.L1347L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1345					cellular response to glucose stimulus (GO:0071333)|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.L1345L(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGGGTGACCTGACCGTGTCTC	0.418																																						uc002lmi.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(4033-4035)CTG>CTC		zinc finger protein 236							79.0	76.0	77.0					18																	74639006		1945	4133	6078	SO:0001819	synonymous_variant	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74639006G>C	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.4035G>C	18.37:g.74639006G>C						ZNF236_uc002lmj.2_RNA	p.L1345L	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	23	4233	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1345					B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	c.4035G>C	CCDS42447.1																																																																																				PASS	0.418	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			22	117	22	117	---	---	---	---
ADNP2	22850	broad.mit.edu	37	18	77895042	77895042	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr18:77895042G>A	ENST00000262198.4	+	4	2201	c.1746G>A	c.(1744-1746)gtG>gtA	p.V582V		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	582					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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.V582V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATCAGCCAGTGAGACCTGGTG	0.537																																						uc002lnw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(1744-1746)GTG>GTA		ADNP homeobox 2							104.0	98.0	100.0					18																	77895042		2203	4300	6503	SO:0001819	synonymous_variant	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77895042G>A	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.1746G>A	18.37:g.77895042G>A							p.V582V	NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	2201	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	582					A8K951|O94943|Q9H9P3	Silent	SNP	ENST00000262198.4	37	c.1746G>A	CCDS32853.1																																																																																				PASS	0.537	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		18	83	18	83	---	---	---	---
MED16	10025	broad.mit.edu	37	19	875362	875362	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:875362G>C	ENST00000589119.1	-	9	1652	c.1653C>G	c.(1651-1653)ctC>ctG	p.L551L	MED16_ENST00000269814.4_Silent_p.L551L|MED16_ENST00000325464.1_Silent_p.L551L|MED16_ENST00000312090.6_Silent_p.L551L|MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Silent_p.L551L			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	551					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.L551L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGATGAGGAAGAGCTTGGTGT	0.647																																						uc002lqd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1651-1653)CTC>CTG		mediator complex subunit 16							73.0	69.0	71.0					19																	875362		2202	4298	6500	SO:0001819	synonymous_variant	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:875362G>C	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1653C>G	19.37:g.875362G>C						MED16_uc010drw.1_Silent_p.L376L|MED16_uc002lqe.2_Silent_p.L540L|MED16_uc002lqf.2_Silent_p.L540L|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Silent_p.L471L|MED16_uc010xfx.1_Silent_p.L396L|MED16_uc010xfy.1_Intron|MED16_uc010xfz.1_5'Flank	p.L551L	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1804	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	551					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	ENST00000589119.1	37	c.1653C>G	CCDS12047.1																																																																																				PASS	0.647	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		30	50	30	50	---	---	---	---
MUM1	84939	broad.mit.edu	37	19	1360266	1360266	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:1360266G>C	ENST00000415183.3	+	4	375	c.349G>C	c.(349-351)Gac>Cac	p.D117H	MUM1_ENST00000591806.1_Missense_Mutation_p.D117H|MUM1_ENST00000311401.5_Missense_Mutation_p.D48H|MUM1_ENST00000344663.3_Missense_Mutation_p.D117H			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	116					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)	p.D117H(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTAGAGCTGACCGGTCTCT	0.597											OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010xgm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(346-348)GAC>CAC		SubName: Full=MUM1 protein;							112.0	105.0	107.0					19																	1360266		2203	4300	6503	SO:0001583	missense	84939				chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding	g.chr19:1360266G>C	AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.349G>C	19.37:g.1360266G>C	ENSP00000394925:p.Asp117His		OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	595	MUM1_uc010dsi.2_Missense_Mutation_p.D48H|MUM1_uc002lrz.2_Missense_Mutation_p.D117H|MUM1_uc002lsb.2_Missense_Mutation_p.D48H|MUM1_uc002lsc.1_Missense_Mutation_p.D48H	p.D116H			Q2TAK8	MUM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	415	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	116					A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	ENST00000415183.3	37	c.346G>C		.	.	.	.	.	.	.	.	.	.	G	10.16	1.274490	0.23307	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183;ENST00000542512	T;T;T	0.34859	1.34;1.34;1.34	4.25	-5.12	0.02893	.	1.786850	0.03227	N	0.178498	T	0.16214	0.0390	N	0.08118	0	0.09310	N	1	P;P;B;B	0.36944	0.574;0.574;0.259;0.168	B;B;B;B	0.31751	0.135;0.135;0.086;0.039	T	0.20107	-1.0285	10	0.62326	D	0.03	.	5.4427	0.16517	0.5024:0.2855:0.2121:0.0	.	117;117;48;116	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	H	117;48;117;46	ENSP00000345789:D117H;ENSP00000309135:D48H;ENSP00000394925:D117H	ENSP00000309135:D48H	D	+	1	0	MUM1	1311266	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.414000	0.07114	-0.794000	0.04468	-0.119000	0.15052	GAC		PASS	0.597	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1	NM_032853		70	107	70	107	---	---	---	---
MUM1	84939	broad.mit.edu	37	19	1360504	1360504	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:1360504G>C	ENST00000415183.3	+	4	613	c.587G>C	c.(586-588)gGa>gCa	p.G196A	MUM1_ENST00000591806.1_Missense_Mutation_p.G196A|MUM1_ENST00000311401.5_Missense_Mutation_p.G127A|MUM1_ENST00000344663.3_Missense_Mutation_p.G196A			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	195					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)	p.G196A(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCAGCTGGAGGTGGTGCC	0.532											OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010xgm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(583-585)GGA>GCA		SubName: Full=MUM1 protein;							51.0	50.0	50.0					19																	1360504		2203	4300	6503	SO:0001583	missense	84939				chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding	g.chr19:1360504G>C	AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.587G>C	19.37:g.1360504G>C	ENSP00000394925:p.Gly196Ala		OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	595	MUM1_uc010dsi.2_Missense_Mutation_p.G127A|MUM1_uc002lrz.2_Missense_Mutation_p.G196A|MUM1_uc002lsb.2_Missense_Mutation_p.G127A|MUM1_uc002lsc.1_Missense_Mutation_p.G127A	p.G195A			Q2TAK8	MUM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	653	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	195					A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	ENST00000415183.3	37	c.584G>C		.	.	.	.	.	.	.	.	.	.	G	7.503	0.653067	0.14580	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183;ENST00000542512	T;T;T	0.37235	1.21;1.21;1.21	4.49	1.03	0.20045	.	4.555030	0.00597	N	0.000362	T	0.31670	0.0804	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.28350	0.121;0.027;0.208;0.051	B;B;B;B	0.21917	0.019;0.015;0.037;0.02	T	0.15407	-1.0438	10	0.34782	T	0.22	.	7.2873	0.26346	0.0:0.1647:0.4953:0.3399	.	196;196;127;195	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	A	196;127;196;125	ENSP00000345789:G196A;ENSP00000309135:G127A;ENSP00000394925:G196A	ENSP00000309135:G127A	G	+	2	0	MUM1	1311504	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.231000	0.09069	0.215000	0.20761	-0.188000	0.12872	GGA		PASS	0.532	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1	NM_032853		35	42	35	42	---	---	---	---
MOB3A	126308	broad.mit.edu	37	19	2078284	2078284	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:2078284C>T	ENST00000357066.3	-	3	655	c.276G>A	c.(274-276)tcG>tcA	p.S92S	MOB3A_ENST00000592143.1_Intron|MOB3A_ENST00000592280.1_Silent_p.S92S	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	92						intracellular (GO:0005622)	metal ion binding (GO:0046872)	p.S92S(1)									TGGGGCCCCCCGACATGACGG	0.612																																						uc002luu.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(274-276)TCG>TCA		MOB-LAK							67.0	53.0	57.0					19																	2078284		2203	4300	6503	SO:0001819	synonymous_variant	126308					intracellular	metal ion binding	g.chr19:2078284C>T	AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"""MOB kinase activators"""	29802	protein-coding gene	gene with protein product	"""MOB LAK"""		"""MOB1, Mps One Binder kinase activator-like 2A (yeast)"""	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.276G>A	19.37:g.2078284C>T						MOBKL2A_uc002luv.2_Silent_p.S92S	p.S92S	NM_130807	NP_570719	Q96BX8	MOL2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	435	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	92					B3KTF1|O75249|Q8TF69	Silent	SNP	ENST00000357066.3	37	c.276G>A	CCDS12081.1																																																																																				PASS	0.612	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450893.1	NM_130807		5	30	5	30	---	---	---	---
NFIC	4782	broad.mit.edu	37	19	3381931	3381931	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:3381931C>G	ENST00000443272.2	+	2	303	c.252C>G	c.(250-252)atC>atG	p.I84M	NFIC_ENST00000341919.3_Missense_Mutation_p.I84M|NFIC_ENST00000586919.1_Missense_Mutation_p.I75M|NFIC_ENST00000589123.1_Missense_Mutation_p.I75M|NFIC_ENST00000346156.5_Missense_Mutation_p.I75M|NFIC_ENST00000395111.3_Missense_Mutation_p.I75M|NFIC_ENST00000590282.1_Missense_Mutation_p.I84M	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	84					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I75M(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GCAAGGACATCCGGCCCGAGT	0.677																																						uc010xhi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)ATC>ATG		nuclear factor I/C isoform 2							78.0	85.0	83.0					19																	3381931		2203	4299	6502	SO:0001583	missense	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3381931C>G	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.252C>G	19.37:g.3381931C>G	ENSP00000396843:p.Ile84Met					NFIC_uc002lxo.2_Missense_Mutation_p.I75M|NFIC_uc010xhh.1_Missense_Mutation_p.I75M|NFIC_uc002lxp.2_Missense_Mutation_p.I84M|NFIC_uc010xhj.1_Missense_Mutation_p.I84M|NFIC_uc002lxq.1_Missense_Mutation_p.I36M	p.I84M	NM_205843	NP_995315	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	2	314	+		Hepatocellular(1079;0.137)	84			CTF/NF-I.		A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	c.252C>G	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127788	0.56721	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.77098	-1.07;-1.07;-1.07	3.88	3.88	0.44766	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.85410	0.5690	M	0.73962	2.25	0.58432	D	0.999993	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.998;0.998;0.996;0.996;0.996	D	0.86175	0.1602	10	0.87932	D	0	.	8.8346	0.35104	0.0:0.8928:0.0:0.1072	.	84;84;75;84;75	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	M	75;75;75;84;84;84	ENSP00000378543:I75M;ENSP00000301935:I75M;ENSP00000342194:I84M	ENSP00000269778:I84M	I	+	3	3	NFIC	3332931	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.001000	0.49488	1.879000	0.54435	0.467000	0.42956	ATC		PASS	0.677	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		6	149	6	149	---	---	---	---
PTPRS	5802	broad.mit.edu	37	19	5244280	5244280	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:5244280C>G	ENST00000587303.1	-	10	1301	c.1202G>C	c.(1201-1203)tGg>tCg	p.W401S	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Missense_Mutation_p.W388S|PTPRS_ENST00000262963.6_Missense_Mutation_p.W397S|PTPRS_ENST00000372412.4_Missense_Mutation_p.W402S|PTPRS_ENST00000357368.4_Missense_Mutation_p.W401S|PTPRS_ENST00000353284.2_Missense_Mutation_p.W388S|PTPRS_ENST00000592099.1_Missense_Mutation_p.W388S|PTPRS_ENST00000588012.1_Missense_Mutation_p.W388S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	401	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.W401S(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGCCGACACCCAGATCTCGTA	0.647																																						uc002mbv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(1201-1203)TGG>TCG		protein tyrosine phosphatase, receptor type,							63.0	54.0	57.0					19																	5244280		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5244280C>G	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1202G>C	19.37:g.5244280C>G	ENSP00000467537:p.Trp401Ser					PTPRS_uc002mbu.1_Missense_Mutation_p.W388S|PTPRS_uc010xin.1_Missense_Mutation_p.W388S|PTPRS_uc002mbw.2_Missense_Mutation_p.W388S|PTPRS_uc002mbx.2_Missense_Mutation_p.W392S|PTPRS_uc002mby.2_Missense_Mutation_p.W388S	p.W401S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	11	1436	-			401			Fibronectin type-III 1.|Extracellular (Potential).		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.1202G>C	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091131	0.55968	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	3.93	3.93	0.45458	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.095701	0.43919	U	0.000505	T	0.40040	0.1101	N	0.02802	-0.49	0.44587	D	0.997557	B;B;B;B;P;B	0.41569	0.003;0.003;0.002;0.074;0.755;0.376	B;B;B;B;P;B	0.48873	0.01;0.001;0.008;0.12;0.593;0.173	T	0.56613	-0.7950	10	0.59425	D	0.04	.	16.1378	0.81497	0.0:1.0:0.0:0.0	.	401;388;392;388;401;414	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	S	414;402;401;401;401;397;388;401;392;388	ENSP00000361489:W402S;ENSP00000349932:W401S;ENSP00000262963:W397S;ENSP00000269907:W388S;ENSP00000327313:W388S	ENSP00000262963:W397S	W	-	2	0	PTPRS	5195280	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.545000	0.82128	2.052000	0.61016	0.462000	0.41574	TGG		PASS	0.647	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			9	81	9	81	---	---	---	---
RPL36	25873	broad.mit.edu	37	19	5692044	5692044	+	IGR	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:5692044C>T	ENST00000577222.1	+	0	874				LONP1_ENST00000540670.2_Silent_p.*764*|LONP1_ENST00000593119.1_Silent_p.*896*|LONP1_ENST00000585374.1_Silent_p.*846*|LONP1_ENST00000360614.3_Silent_p.*960*|LONP1_ENST00000590729.1_Silent_p.*830*			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.*960*(1)		breast(1)|upper_aerodigestive_tract(1)	2						GGGTGGCCGTCACCGTTCCAC	0.687																																						uc002mcx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2878-2880)TGA>TAA		mitochondrial lon peptidase 1 precursor							66.0	58.0	61.0					19																	5692044		2203	4300	6503	SO:0001628	intergenic_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5692044C>T		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5692044C>T						LONP1_uc002mcy.2_Silent_p.*896*|LONP1_uc010duh.2_Silent_p.*701*|LONP1_uc010dui.2_Silent_p.*944*|LONP1_uc002mcz.2_Silent_p.*764*	p.*960*	NM_004793	NP_004784	P36776	LONM_HUMAN			18	2912	-			960					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Silent	SNP	ENST00000577222.1	37	c.2879G>A	CCDS12147.1																																																																																				PASS	0.687	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	NM_015414		4	92	4	92	---	---	---	---
VAV1	7409	broad.mit.edu	37	19	6825109	6825109	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:6825109G>C	ENST00000602142.1	+	7	782	c.700G>C	c.(700-702)Gag>Cag	p.E234Q	VAV1_ENST00000304076.2_Missense_Mutation_p.E234Q|VAV1_ENST00000539284.1_Missense_Mutation_p.E137Q|VAV1_ENST00000596764.1_Missense_Mutation_p.E202Q|VAV1_ENST00000599806.1_Missense_Mutation_p.E179Q	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	234	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E234Q(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TCAAGACATTGAGATCATCTT	0.537																																						uc002mfu.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						c.(700-702)GAG>CAG		vav 1 guanine nucleotide exchange factor							111.0	112.0	112.0					19																	6825109		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6825109G>C		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.700G>C	19.37:g.6825109G>C	ENSP00000472929:p.Glu234Gln					VAV1_uc010xjh.1_Missense_Mutation_p.E202Q|VAV1_uc010dva.1_Missense_Mutation_p.E234Q|VAV1_uc002mfv.1_Missense_Mutation_p.E179Q	p.E234Q	NM_005428	NP_005419	P15498	VAV_HUMAN			7	797	+			234			DH.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.700G>C	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805873	0.50421	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.60299	0.2;0.2	5.02	5.02	0.67125	Dbl homology (DH) domain (5);Calponin homology domain (1);	0.130645	0.50627	D	0.000110	T	0.65026	0.2652	L	0.53729	1.69	0.44477	D	0.99741	D;D;P;D	0.63046	0.988;0.992;0.881;0.971	P;P;P;P	0.61003	0.757;0.882;0.706;0.835	T	0.63919	-0.6528	10	0.39692	T	0.17	.	9.4664	0.38816	0.0969:0.0:0.9031:0.0	.	137;234;179;234	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	Q	234;137	ENSP00000302269:E234Q;ENSP00000443242:E137Q	ENSP00000302269:E234Q	E	+	1	0	VAV1	6776109	1.000000	0.71417	0.998000	0.56505	0.305000	0.27757	6.261000	0.72509	2.337000	0.79520	0.655000	0.94253	GAG		PASS	0.537	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			58	165	58	165	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6896534	6896534	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:6896534C>T	ENST00000312053.4	+	3	257	c.220C>T	c.(220-222)Cca>Tca	p.P74S	EMR1_ENST00000381407.5_Missense_Mutation_p.P74S|EMR1_ENST00000450315.3_Missense_Mutation_p.P74S|AC020895.1_ENST00000580648.1_RNA|EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000250572.8_Missense_Mutation_p.P74S|EMR1_ENST00000381404.4_Missense_Mutation_p.P74S	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	74	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.P74S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTTCAAGGATCCAGGAGTGCG	0.483																																						uc002mfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(220-222)CCA>TCA		egf-like module containing, mucin-like, hormone							137.0	101.0	113.0					19																	6896534		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6896534C>T	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.220C>T	19.37:g.6896534C>T	ENSP00000311545:p.Pro74Ser					EMR1_uc010dvc.2_Missense_Mutation_p.P74S|EMR1_uc010dvb.2_Missense_Mutation_p.P74S|EMR1_uc010xji.1_Missense_Mutation_p.P74S|EMR1_uc010xjj.1_Missense_Mutation_p.P74S	p.P74S	NM_001974	NP_001965	Q14246	EMR1_HUMAN			3	258	+	all_hematologic(4;0.166)		74			Extracellular (Potential).|EGF-like 1.		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.220C>T	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	C	9.644	1.139732	0.21205	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.81163	-1.46;-1.29;-1.46;-0.0;-1.46	3.91	2.87	0.33458	Epidermal growth factor-like (1);	.	.	.	.	T	0.66509	0.2796	N	0.25426	0.745	0.09310	N	1	B;B;B;B;B	0.29378	0.02;0.005;0.041;0.084;0.243	B;B;B;B;B	0.27262	0.016;0.002;0.029;0.013;0.078	T	0.52396	-0.8581	9	0.26408	T	0.33	.	7.7883	0.29106	0.0:0.8781:0.0:0.1219	.	74;74;74;74;74	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	S	74	ENSP00000311545:P74S;ENSP00000370811:P74S;ENSP00000250572:P74S;ENSP00000370814:P74S;ENSP00000405974:P74S	ENSP00000250572:P74S	P	+	1	0	EMR1	6847534	0.000000	0.05858	0.009000	0.14445	0.012000	0.07955	0.057000	0.14279	0.750000	0.32877	0.543000	0.68304	CCA		PASS	0.483	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			71	75	71	75	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8150300	8150300	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:8150300G>A	ENST00000600128.1	-	56	7448	c.7034C>T	c.(7033-7035)tCt>tTt	p.S2345F	FBN3_ENST00000601739.1_Missense_Mutation_p.S2345F|FBN3_ENST00000270509.2_Missense_Mutation_p.S2345F			Q75N90	FBN3_HUMAN	fibrillin 3	2345	TB 9.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.S2345F(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTGTAGGCAGAGGTGCCGGG	0.706																																						uc002mjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(7033-7035)TCT>TTT		fibrillin 3 precursor							7.0	9.0	8.0					19																	8150300		2160	4221	6381	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8150300G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7034C>T	19.37:g.8150300G>A	ENSP00000470498:p.Ser2345Phe					FBN3_uc002mje.2_Missense_Mutation_p.S184F	p.S2345F	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			55	7055	-			2345			TB 9.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.7034C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872545	0.33069	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.92858	-3.12	4.7	4.7	0.59300	Matrix fibril-associated (3);TGF-beta binding (1);	0.302872	0.31102	U	0.008248	D	0.94751	0.8306	M	0.65498	2.005	0.09310	N	1	D;P	0.63880	0.993;0.863	D;B	0.68483	0.958;0.419	D	0.89075	0.3472	10	0.56958	D	0.05	.	13.3792	0.60759	0.0:0.1582:0.8418:0.0	.	2345;451	Q75N90;Q6ZNB8	FBN3_HUMAN;.	F	2345;451	ENSP00000270509:S2345F	ENSP00000270509:S2345F	S	-	2	0	FBN3	8056300	0.159000	0.22864	0.007000	0.13788	0.011000	0.07611	3.184000	0.50926	2.160000	0.67779	0.478000	0.44815	TCT		PASS	0.706	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		5	10	5	10	---	---	---	---
NDUFA7	4701	broad.mit.edu	37	19	8381519	8381519	+	Missense_Mutation	SNP	G	G	T	rs142961225	byFrequency	TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:8381519G>T	ENST00000301457.2	-	3	149	c.112C>A	c.(112-114)Cct>Act	p.P38T	NDUFA7_ENST00000598884.1_Missense_Mutation_p.P38T	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	38					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.P38T(1)		NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						AGCTTGGGAGGAGGCTGAGTT	0.552																																						uc002mjm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(112-114)CCT>ACT		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						58.0	67.0	64.0					19																	8381519		1984	4161	6145	SO:0001583	missense	4701				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:8381519G>T	AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"""Mitochondrial respiratory chain complex / Complex I"""	7691	protein-coding gene	gene with protein product	"""complex I B14.5a subunit"""	602139	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"""			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.112C>A	19.37:g.8381519G>T	ENSP00000301457:p.Pro38Thr						p.P38T	NM_005001	NP_004992	O95182	NDUA7_HUMAN			3	150	-			38						Missense_Mutation	SNP	ENST00000301457.2	37	c.112C>A	CCDS42492.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179170	0.78564	.	.	ENSG00000167774	ENST00000301457	T	0.44482	0.92	5.74	4.7	0.59300	.	0.061565	0.64402	D	0.000003	T	0.59459	0.2195	M	0.83384	2.64	0.58432	D	0.999997	P	0.51537	0.946	P	0.51974	0.686	T	0.67875	-0.5557	10	0.66056	D	0.02	-14.9915	15.5247	0.75894	0.0:0.1389:0.8611:0.0	.	38	O95182	NDUA7_HUMAN	T	38	ENSP00000301457:P38T	ENSP00000301457:P38T	P	-	1	0	NDUFA7	8287519	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.522000	0.81844	1.423000	0.47198	0.561000	0.74099	CCT		PASS	0.552	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461373.1	NM_005001		8	114	8	114	---	---	---	---
ADAMTS10	81794	broad.mit.edu	37	19	8670048	8670048	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:8670048G>T	ENST00000597188.1	-	4	554	c.284C>A	c.(283-285)tCc>tAc	p.S95Y	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.S95Y|ADAMTS10_ENST00000596709.1_5'UTR	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	95						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S95Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CAGTAGACGGGAGCTGCGGGT	0.706																																						uc002mkj.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|skin(2)	4						c.(283-285)TCC>TAC		ADAM metallopeptidase with thrombospondin type 1							33.0	33.0	33.0					19																	8670048		2202	4295	6497	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8670048G>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.284C>A	19.37:g.8670048G>T	ENSP00000471851:p.Ser95Tyr					ADAMTS10_uc002mkk.1_5'UTR	p.S95Y	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			4	558	-			95					M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.284C>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	G	2.278	-0.365394	0.05069	.	.	ENSG00000142303	ENST00000270328	T	0.06687	3.27	5.44	4.32	0.51571	Peptidase M12B, propeptide (1);	0.509477	0.20048	N	0.100380	T	0.10809	0.0264	L	0.42529	1.33	0.26420	N	0.976123	B	0.06786	0.001	B	0.19666	0.026	T	0.11867	-1.0570	10	0.56958	D	0.05	.	16.9516	0.86247	0.0:0.1386:0.8614:0.0	.	95	Q9H324	ATS10_HUMAN	Y	95	ENSP00000270328:S95Y	ENSP00000270328:S95Y	S	-	2	0	ADAMTS10	8576048	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	3.078000	0.50096	2.559000	0.86315	0.491000	0.48974	TCC		PASS	0.706	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		18	22	18	22	---	---	---	---
OR1M1	125963	broad.mit.edu	37	19	9204718	9204718	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:9204718C>T	ENST00000429566.3	+	1	864	c.798C>T	c.(796-798)ctC>ctT	p.L266L		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L266L(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTCGGTCCTCACCACTGTGA	0.547																																						uc010xkj.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(796-798)CTC>CTT		olfactory receptor, family 1, subfamily M,							142.0	127.0	132.0					19																	9204718		2203	4300	6503	SO:0001819	synonymous_variant	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204718C>T		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.798C>T	19.37:g.9204718C>T							p.L266L	NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN			1	798	+			266			Extracellular (Potential).		B9EHA6|Q6IFJ3|Q96R91	Silent	SNP	ENST00000429566.3	37	c.798C>T	CCDS32896.1																																																																																				PASS	0.547	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			26	299	26	299	---	---	---	---
OR7D4	125958	broad.mit.edu	37	19	9325149	9325149	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:9325149C>T	ENST00000308682.2	-	1	393	c.365G>A	c.(364-366)cGg>cAg	p.R122Q		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122Q(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GGCCACAAACCGGTCATAGGC	0.502																																						uc002mla.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(364-366)CGG>CAG		olfactory receptor, family 7, subfamily D,							87.0	79.0	82.0					19																	9325149		2203	4300	6503	SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9325149C>T		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.365G>A	19.37:g.9325149C>T	ENSP00000310488:p.Arg122Gln						p.R122Q	NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN			1	365	-			122			Cytoplasmic (Potential).		A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.365G>A	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250496	0.39797	.	.	ENSG00000174667	ENST00000308682	T	0.76968	-1.06	4.0	1.86	0.25419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000036	T	0.76118	0.3943	M	0.87758	2.905	0.31044	N	0.715967	B	0.29085	0.232	B	0.20384	0.029	T	0.75274	-0.3375	10	0.66056	D	0.02	.	8.7852	0.34816	0.0:0.8091:0.0:0.1909	.	122	Q8NG98	OR7D4_HUMAN	Q	122	ENSP00000310488:R122Q	ENSP00000310488:R122Q	R	-	2	0	OR7D4	9186149	0.476000	0.25901	0.900000	0.35374	0.331000	0.28603	4.615000	0.61190	0.481000	0.27557	0.436000	0.28706	CGG		PASS	0.502	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			5	131	5	131	---	---	---	---
RAVER1	125950	broad.mit.edu	37	19	10432272	10432272	+	Nonsense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:10432272G>C	ENST00000293677.6	-	7	1328	c.1247C>G	c.(1246-1248)tCa>tGa	p.S416*	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	399	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S416*(1)|p.S399*(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GCCCAGGGGTGAGTCTCCCAG	0.687																																						uc002moa.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1246-1248)TCA>TGA		RAVER1							33.0	40.0	37.0					19																	10432272		1992	4154	6146	SO:0001587	stop_gained	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10432272G>C		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.1247C>G	19.37:g.10432272G>C	ENSP00000293677:p.Ser416*						p.S416*	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		7	1327	-			399					A6NMU4|Q8IY60|Q8TF24	Nonsense_Mutation	SNP	ENST00000293677.6	37	c.1247C>G	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	G	37	6.454884	0.97581	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	.	.	.	4.82	4.82	0.62117	.	0.256963	0.33290	N	0.005064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-8.2244	13.4179	0.60979	0.0:0.0:1.0:0.0	.	.	.	.	X	416;399	.	ENSP00000293677:S416X	S	-	2	0	RAVER1	10293272	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.830000	0.55768	2.229000	0.72834	0.400000	0.26472	TCA		PASS	0.687	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		5	33	5	33	---	---	---	---
RAVER1	125950	broad.mit.edu	37	19	10439679	10439679	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:10439679G>T	ENST00000293677.6	-	3	527	c.446C>A	c.(445-447)gCc>gAc	p.A149D		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	132	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A132D(1)|p.A149D(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			ACACAGCAGGGCATCCGTGGG	0.662																																						uc002moa.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(445-447)GCC>GAC		RAVER1							10.0	13.0	12.0					19																	10439679		2163	4248	6411	SO:0001583	missense	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10439679G>T		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.446C>A	19.37:g.10439679G>T	ENSP00000293677:p.Ala149Asp						p.A149D	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		3	526	-			132			RRM 2.		A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	37	c.446C>A	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661096	0.88154	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.14022	2.54	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	M	0.85542	2.76	0.58432	D	0.999998	D	0.61080	0.989	D	0.69307	0.963	T	0.45702	-0.9243	10	0.72032	D	0.01	-19.9485	15.9636	0.79950	0.0:0.0:1.0:0.0	.	149	E9PAU2	.	D	149;132	ENSP00000293677:A149D	ENSP00000293677:A149D	A	-	2	0	RAVER1	10300679	1.000000	0.71417	0.995000	0.50966	0.890000	0.51754	9.276000	0.95745	2.357000	0.79964	0.650000	0.86243	GCC		PASS	0.662	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		4	14	4	14	---	---	---	---
DNM2	1785	broad.mit.edu	37	19	10912999	10912999	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:10912999C>G	ENST00000355667.6	+	12	1538	c.1458C>G	c.(1456-1458)atC>atG	p.I486M	DNM2_ENST00000359692.6_Missense_Mutation_p.I486M|DNM2_ENST00000389253.4_Missense_Mutation_p.I486M|DNM2_ENST00000408974.4_Missense_Mutation_p.I486M|DNM2_ENST00000585892.1_Missense_Mutation_p.I486M|DNM2_ENST00000314646.5_Missense_Mutation_p.I486M	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	486					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)	p.I486M(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGTCCTACATCAACACGAACC	0.562			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1				Rec	yes		19	19p13.2	1785		dynamin 2			L					2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(1456-1458)ATC>ATG		dynamin 2 isoform 2							118.0	99.0	106.0					19																	10912999		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10912999C>G		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1458C>G	19.37:g.10912999C>G	ENSP00000347890:p.Ile486Met					DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.I486M|DNM2_uc002mpv.1_Missense_Mutation_p.I486M|DNM2_uc002mpu.1_Missense_Mutation_p.I486M|DNM2_uc010dxl.1_Missense_Mutation_p.I486M|DNM2_uc002mpw.2_Missense_Mutation_p.I219M	p.I486M	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		12	1622	+			486					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.1458C>G	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388103	0.25118	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	4.93	3.89	0.44902	Dynamin central domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.80303	0.4598	L	0.34521	1.04	0.47123	D	0.999326	P;B;P;D;P;D	0.67145	0.861;0.033;0.857;0.996;0.483;0.991	P;B;P;D;B;D	0.67103	0.531;0.062;0.609;0.949;0.393;0.909	T	0.75042	-0.3457	10	0.20519	T	0.43	.	8.6645	0.34112	0.0:0.8212:0.0:0.1788	.	80;219;486;486;486;486	Q8N1K8;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;DYN2_HUMAN;.	M	475;486;486;486;486;486	ENSP00000386192:I486M;ENSP00000347890:I486M;ENSP00000352721:I486M;ENSP00000373905:I486M;ENSP00000313164:I486M	ENSP00000313164:I486M	I	+	3	3	DNM2	10773999	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	1.168000	0.31859	1.065000	0.40693	0.462000	0.41574	ATC		PASS	0.562	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		8	114	8	114	---	---	---	---
DNM2	1785	broad.mit.edu	37	19	10913020	10913020	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:10913020C>T	ENST00000355667.6	+	12	1559	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	DNM2_ENST00000359692.6_Silent_p.F493F|DNM2_ENST00000389253.4_Silent_p.F493F|DNM2_ENST00000408974.4_Silent_p.F493F|DNM2_ENST00000585892.1_Silent_p.F493F|DNM2_ENST00000314646.5_Silent_p.F493F	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	493					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)	p.F493F(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ATGAGGACTTCATCGGGTTTG	0.537			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1				Rec	yes		19	19p13.2	1785		dynamin 2			L					2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(1477-1479)TTC>TTT		dynamin 2 isoform 2							111.0	94.0	100.0					19																	10913020		2203	4300	6503	SO:0001819	synonymous_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10913020C>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1479C>T	19.37:g.10913020C>T						DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.F493F|DNM2_uc002mpv.1_Silent_p.F493F|DNM2_uc002mpu.1_Silent_p.F493F|DNM2_uc010dxl.1_Silent_p.F493F|DNM2_uc002mpw.2_Silent_p.F226F	p.F493F	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		12	1643	+			493					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	c.1479C>T	CCDS45968.1																																																																																				PASS	0.537	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		8	112	8	112	---	---	---	---
DOCK6	57572	broad.mit.edu	37	19	11338084	11338084	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:11338084C>A	ENST00000294618.7	-	24	2895	c.2884G>T	c.(2884-2886)Gga>Tga	p.G962*	DOCK6_ENST00000319867.7_Nonsense_Mutation_p.G301*	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	962					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.G962*(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AGGAAGCGTCCGGGGAAGCGC	0.632																																						uc002mqs.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2884-2886)GGA>TGA		dedicator of cytokinesis 6							33.0	39.0	37.0					19																	11338084		2097	4231	6328	SO:0001587	stop_gained	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11338084C>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.2884G>T	19.37:g.11338084C>A	ENSP00000294618:p.Gly962*					DOCK6_uc010xlq.1_Nonsense_Mutation_p.G301*	p.G962*	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			24	2925	-			962					A6H8X5|Q7Z7P4|Q9P2F2	Nonsense_Mutation	SNP	ENST00000294618.7	37	c.2884G>T	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	41	8.765140	0.98945	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	.	.	.	4.33	3.27	0.37495	.	0.063724	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-21.2001	10.437	0.44441	0.0:0.8981:0.0:0.1019	.	.	.	.	X	962;301	.	ENSP00000294618:G962X	G	-	1	0	DOCK6	11199084	0.629000	0.27146	0.999000	0.59377	0.914000	0.54420	1.878000	0.39608	1.941000	0.56285	0.561000	0.74099	GGA		PASS	0.632	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		26	33	26	33	---	---	---	---
ZNF440	126070	broad.mit.edu	37	19	11943147	11943147	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:11943147C>G	ENST00000304060.5	+	4	1320	c.1156C>G	c.(1156-1158)Cat>Gat	p.H386D		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	386					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.H386D(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCTTCGATATCATGAAAGGAC	0.438																																						uc002msp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1156-1158)CAT>GAT		zinc finger protein 440							69.0	69.0	69.0					19																	11943147		2203	4298	6501	SO:0001583	missense	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11943147C>G	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1156C>G	19.37:g.11943147C>G	ENSP00000305373:p.His386Asp						p.H386D	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN			4	1312	+			386			C2H2-type 9.		Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	c.1156C>G	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	c	14.88	2.666503	0.47677	.	.	ENSG00000171295	ENST00000304060	D	0.86769	-2.17	1.19	1.19	0.21007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94850	0.8336	H	0.96805	3.885	0.34207	D	0.673881	D	0.89917	1.0	D	0.91635	0.999	D	0.95211	0.8325	9	0.87932	D	0	.	9.9281	0.41505	0.0:1.0:0.0:0.0	.	386	Q8IYI8	ZN440_HUMAN	D	386	ENSP00000305373:H386D	ENSP00000305373:H386D	H	+	1	0	ZNF440	11804147	0.995000	0.38212	0.017000	0.16124	0.035000	0.12851	5.884000	0.69729	0.972000	0.38314	0.205000	0.17691	CAT		PASS	0.438	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		8	131	8	131	---	---	---	---
ZNF799	90576	broad.mit.edu	37	19	12502916	12502916	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:12502916C>G	ENST00000430385.3	-	4	496	c.296G>C	c.(295-297)gGa>gCa	p.G99A	CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.G99A|CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.G67A	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	99					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.G99A(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TGGACCTACTCCAGGAAGAGT	0.413																																						uc010dyt.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(295-297)GGA>GCA		zinc finger protein 799							125.0	116.0	119.0					19																	12502916		2203	4300	6503	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12502916C>G	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.296G>C	19.37:g.12502916C>G	ENSP00000411084:p.Gly99Ala					ZNF799_uc002mts.3_Intron	p.G99A	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN			4	446	-			99						Missense_Mutation	SNP	ENST00000430385.3	37	c.296G>C	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	7.465	0.645496	0.14451	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.07800	3.16;3.32	1.31	-1.27	0.09347	.	.	.	.	.	T	0.06325	0.0163	L	0.45470	1.425	0.09310	N	1	P	0.40534	0.72	B	0.35931	0.214	T	0.26643	-1.0097	9	0.72032	D	0.01	.	2.6529	0.05003	0.0:0.4658:0.3106:0.2236	.	99	Q96GE5	ZN799_HUMAN	A	67;99	ENSP00000415278:G67A;ENSP00000411084:G99A	ENSP00000415278:G67A	G	-	2	0	ZNF799	12363916	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.244000	0.18124	-0.296000	0.08947	0.430000	0.28490	GGA		PASS	0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		73	112	73	112	---	---	---	---
TRMT1	55621	broad.mit.edu	37	19	13216201	13216201	+	Silent	SNP	C	C	A	rs183541443		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:13216201C>A	ENST00000592062.1	-	17	2283	c.1713G>T	c.(1711-1713)gcG>gcT	p.A571A	TRMT1_ENST00000357720.4_Silent_p.A571A|TRMT1_ENST00000221504.8_Silent_p.A542A|LYL1_ENST00000264824.4_5'Flank|TRMT1_ENST00000437766.1_Silent_p.A571A			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	571							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)	p.A571A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CTTCGTCGGCCGCCTTGCCCC	0.642																																						uc002mwj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1711-1713)GCG>GCT		tRNA methyltransferase 1 isoform 1							66.0	70.0	69.0					19																	13216201		2203	4300	6503	SO:0001819	synonymous_variant	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13216201C>A	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1713G>T	19.37:g.13216201C>A						LYL1_uc002mwi.2_5'Flank|TRMT1_uc010xmy.1_Silent_p.A175A|TRMT1_uc002mwk.2_Silent_p.A542A|TRMT1_uc002mwl.3_Silent_p.A571A|TRMT1_uc010xmz.1_3'UTR	p.A571A	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	15	1963	-			571					O76103|Q548Y5|Q8WVA6	Silent	SNP	ENST00000592062.1	37	c.1713G>T	CCDS12293.1																																																																																				PASS	0.642	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		10	186	10	186	---	---	---	---
OR7C2	26658	broad.mit.edu	37	19	15053102	15053102	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:15053102A>G	ENST00000248072.3	+	1	802	c.802A>G	c.(802-804)Agg>Ggg	p.R268G		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R268G(1)		large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					ACCACCTTCTAGGACAAGTCT	0.542																																						uc010xoc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(802-804)AGG>GGG		olfactory receptor, family 7, subfamily C,							141.0	127.0	132.0					19																	15053102		2203	4300	6503	SO:0001583	missense	26658				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15053102A>G	U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.802A>G	19.37:g.15053102A>G	ENSP00000248072:p.Arg268Gly						p.R268G	NM_012377	NP_036509	O60412	OR7C2_HUMAN			1	802	+	Ovarian(108;0.203)		268			Extracellular (Potential).		O43881|Q6IFP9	Missense_Mutation	SNP	ENST00000248072.3	37	c.802A>G	CCDS12320.1	.	.	.	.	.	.	.	.	.	.	a	1.657	-0.512357	0.04200	.	.	ENSG00000127529	ENST00000248072	T	0.00115	8.71	3.95	0.194	0.15143	GPCR, rhodopsin-like superfamily (1);	0.481200	0.17043	U	0.189256	T	0.00109	0.0003	N	0.26130	0.795	0.09310	N	1	B	0.12013	0.005	B	0.15484	0.013	T	0.26573	-1.0099	10	0.51188	T	0.08	.	4.4256	0.11501	0.3372:0.3357:0.0:0.3271	.	268	O60412	OR7C2_HUMAN	G	268	ENSP00000248072:R268G	ENSP00000248072:R268G	R	+	1	2	OR7C2	14914102	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.652000	0.01988	0.169000	0.19679	-0.668000	0.03835	AGG		PASS	0.542	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1			86	139	86	139	---	---	---	---
SYDE1	85360	broad.mit.edu	37	19	15224645	15224645	+	Silent	SNP	G	G	A	rs374524400		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:15224645G>A	ENST00000342784.2	+	8	2110	c.2079G>A	c.(2077-2079)ccG>ccA	p.P693P	SYDE1_ENST00000600252.1_Silent_p.P350P|SYDE1_ENST00000600440.1_Silent_p.P626P	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	693					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)	p.P693P(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						TCGGCGAGCCGAGGGTCACCG	0.627																																						uc002nah.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2077-2079)CCG>CCA		synapse defective 1, Rho GTPase, homolog 1		G		0,4406		0,0,2203	116.0	125.0	122.0		2079	-4.6	0.0	19		122	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SYDE1	NM_033025.4		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		693/736	15224645	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15224645G>A	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.2079G>A	19.37:g.15224645G>A						SYDE1_uc002nai.1_Silent_p.P626P|SYDE1_uc002naj.1_Silent_p.P350P	p.P693P	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN			8	2110	+			693					Q7L2I8|Q8N6J2|Q9H8K4	Silent	SNP	ENST00000342784.2	37	c.2079G>A	CCDS12324.1																																																																																				PASS	0.627	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		16	169	16	169	---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15298024	15298024	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:15298024G>C	ENST00000263388.2	-	11	1807	c.1732C>G	c.(1732-1734)Cgc>Ggc	p.R578G		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	578	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		R -> C (in CADASIL). {ECO:0000269|PubMed:11102981, ECO:0000269|PubMed:9388399}.		forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R578G(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CTCTCGCAGCGTGTGCCCGTG	0.647																																						uc002nan.2																			2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21	GRCh37	CM961047	NOTCH3	M		c.(1732-1734)CGC>GGC		Notch homolog 3 precursor							53.0	46.0	49.0					19																	15298024		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15298024G>C	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1732C>G	19.37:g.15298024G>C	ENSP00000263388:p.Arg578Gly					NOTCH3_uc002nao.1_Missense_Mutation_p.R578G	p.R578G	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		11	1808	-			578		R -> C (in CADASIL).	Extracellular (Potential).|EGF-like 14; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.1732C>G	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743101	0.69418	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	T	0.79454	-1.27	4.51	4.51	0.55191	EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.84561	0.5499	L	0.57536	1.79	0.58432	D	0.999999	D;D	0.67145	0.994;0.996	P;D	0.71184	0.787;0.972	T	0.82448	-0.0452	9	0.26408	T	0.33	.	16.3643	0.83308	0.0:0.0:1.0:0.0	.	581;578	Q59FL3;Q9UM47	.;NOTC3_HUMAN	G	578;580	ENSP00000263388:R578G	ENSP00000263388:R578G	R	-	1	0	NOTCH3	15159024	0.368000	0.25031	0.984000	0.44739	0.988000	0.76386	2.191000	0.42640	2.215000	0.71742	0.655000	0.94253	CGC		PASS	0.647	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		18	45	18	45	---	---	---	---
WIZ	58525	broad.mit.edu	37	19	15537819	15537819	+	Missense_Mutation	SNP	C	C	A	rs372083721		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:15537819C>A	ENST00000389282.4	-	6	3839	c.3626G>T	c.(3625-3627)cGg>cTg	p.R1209L	WIZ_ENST00000599910.2_Missense_Mutation_p.R526L|WIZ_ENST00000263381.7_Missense_Mutation_p.R352L|WIZ_ENST00000545156.1_Missense_Mutation_p.R523L|WIZ_ENST00000599686.3_Missense_Mutation_p.R393L			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1209					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.R352L(1)|p.R1209L(1)|p.R523L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CATGTCTTCCCGTGGTGCCCC	0.617																																						uc002nbc.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1576-1578)CGG>CTG		widely-interspaced zinc finger motifs							69.0	71.0	70.0					19																	15537819		1910	4120	6030	SO:0001583	missense	58525					nucleus	zinc ion binding	g.chr19:15537819C>A	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.3626G>T	19.37:g.15537819C>A	ENSP00000373933:p.Arg1209Leu					WIZ_uc002nba.3_Missense_Mutation_p.R393L|WIZ_uc002nbb.3_Missense_Mutation_p.R352L	p.R526L	NM_021241	NP_067064	O95785	WIZ_HUMAN			4	1600	-			1209					B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37	c.1577G>T		.	.	.	.	.	.	.	.	.	.	C	14.97	2.693322	0.48202	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T;T;T	0.28666	1.6;1.6;1.6	5.67	5.67	0.87782	.	0.410489	0.26153	N	0.026024	T	0.20861	0.0502	N	0.24115	0.695	0.37926	D	0.931849	P;B;B	0.36315	0.547;0.307;0.065	B;B;B	0.34824	0.19;0.057;0.026	T	0.07616	-1.0763	10	0.09590	T	0.72	-22.7201	16.6796	0.85288	0.0:1.0:0.0:0.0	.	1209;352;393	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	L	1209;352;393;523	ENSP00000373933:R1209L;ENSP00000263381:R352L;ENSP00000445824:R523L	ENSP00000263381:R352L	R	-	2	0	WIZ	15398819	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	1.372000	0.34261	2.666000	0.90696	0.561000	0.74099	CGG		PASS	0.617	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		7	167	7	167	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16918790	16918790	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:16918790C>A	ENST00000552788.1	+	16	4130	c.4130C>A	c.(4129-4131)gCa>gAa	p.A1377E	NWD1_ENST00000523826.1_Missense_Mutation_p.A1171E|NWD1_ENST00000339803.6_Missense_Mutation_p.A1242E|NWD1_ENST00000524140.2_Missense_Mutation_p.A1377E|NWD1_ENST00000379808.3_Missense_Mutation_p.A1377E|NWD1_ENST00000549814.1_Missense_Mutation_p.A1335E			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1377							ATP binding (GO:0005524)	p.A1242E(1)|p.A1377E(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TACGAGTGTGCAACTTCCAAA	0.587																																						uc002neu.3																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)	7						c.(4129-4131)GCA>GAA		RecName: Full=NACHT and WD repeat domain-containing protein 1;							175.0	155.0	162.0					19																	16918790		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16918790C>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.4130C>A	19.37:g.16918790C>A	ENSP00000447224:p.Ala1377Glu					NWD1_uc002net.3_Missense_Mutation_p.A1242E|NWD1_uc002nev.3_Missense_Mutation_p.A1171E	p.A1377E			Q149M9	NWD1_HUMAN			18	4552	+			1377					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.4130C>A		.	.	.	.	.	.	.	.	.	.	C	8.921	0.961120	0.18583	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.64438	-0.1;0.49;-0.1;2.28;0.49;2.28	4.95	1.66	0.24008	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.720633	0.13278	N	0.399959	T	0.38374	0.1038	L	0.29908	0.895	0.09310	N	1	B;B;B	0.25809	0.068;0.135;0.083	B;B;B	0.21917	0.009;0.037;0.016	T	0.29852	-0.9998	10	0.02654	T	1	-9.9095	3.9185	0.09233	0.166:0.5603:0.0:0.2737	.	1377;1377;1242	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	E	1242;1377;1335;1377;1171;1377;1242	ENSP00000428579:A1377E;ENSP00000447548:A1335E;ENSP00000369136:A1377E;ENSP00000428955:A1171E;ENSP00000447224:A1377E;ENSP00000340159:A1242E	ENSP00000340159:A1242E	A	+	2	0	NWD1	16779790	0.000000	0.05858	0.067000	0.19924	0.011000	0.07611	-0.100000	0.10990	0.153000	0.19213	-0.136000	0.14681	GCA		PASS	0.587	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		38	299	38	299	---	---	---	---
USHBP1	83878	broad.mit.edu	37	19	17370132	17370132	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:17370132C>T	ENST00000252597.3	-	7	1185	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	USHBP1_ENST00000431146.2_Missense_Mutation_p.E274K	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.E338K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCTGTGGCCTCAGCCTCCCGC	0.577																																						uc002nfs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1012-1014)GAG>AAG		Usher syndrome 1C binding protein 1							58.0	55.0	56.0					19																	17370132		2203	4300	6503	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17370132C>T	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1012G>A	19.37:g.17370132C>T	ENSP00000252597:p.Glu338Lys					USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.E274K|USHBP1_uc010eam.1_Missense_Mutation_p.E266K	p.E338K	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN			7	1125	-			338						Missense_Mutation	SNP	ENST00000252597.3	37	c.1012G>A	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406020	0.83230	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T;T	0.53857	0.6;0.6;0.6	5.2	2.94	0.34122	Usher syndrome type-1C protein-binding protein 1, PDZ domain (1);	0.207772	0.33670	N	0.004661	T	0.58892	0.2154	L	0.57536	1.79	0.40357	D	0.979194	P;D;D	0.55605	0.921;0.972;0.961	P;P;P	0.54759	0.542;0.76;0.714	T	0.57894	-0.7732	10	0.36615	T	0.2	-14.9011	11.905	0.52705	0.0:0.6608:0.3392:0.0	.	274;338;338	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	K	338;274;338	ENSP00000252597:E338K;ENSP00000407902:E274K;ENSP00000324174:E338K	ENSP00000252597:E338K	E	-	1	0	USHBP1	17231132	0.479000	0.25925	0.933000	0.37362	0.985000	0.73830	0.692000	0.25482	0.625000	0.30304	0.557000	0.71058	GAG		PASS	0.577	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		4	71	4	71	---	---	---	---
BST2	684	broad.mit.edu	37	19	17516377	17516377	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:17516377G>C	ENST00000252593.6	-	1	80	c.8C>G	c.(7-9)tCt>tGt	p.S3C	BST2_ENST00000527220.1_5'Flank|CTD-2521M24.9_ENST00000500836.2_lincRNA	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	3					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of plasmacytoid dendritic cell cytokine production (GO:0002737)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of actin cytoskeleton organization (GO:0032956)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metalloendopeptidase inhibitor activity (GO:0008191)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.S3C(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						ATACGAAGTAGATGCCATCCA	0.512																																						uc002ngl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(7-9)TCT>TGT		bone marrow stromal cell antigen 2 precursor							101.0	88.0	92.0					19																	17516377		2203	4300	6503	SO:0001583	missense	684				B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade	anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome	protein homodimerization activity|signal transducer activity	g.chr19:17516377G>C		CCDS12358.1	19p13.2	2009-10-30				ENSG00000130303		"""CD molecules"""	1119	protein-coding gene	gene with protein product		600534				7607676	Standard	NM_004335		Approved	CD317, tetherin	uc002ngl.3	Q10589		ENST00000252593.6:c.8C>G	19.37:g.17516377G>C	ENSP00000252593:p.Ser3Cys					uc010eat.1_5'Flank|uc002ngm.1_5'Flank	p.S3C	NM_004335	NP_004326	Q10589	BST2_HUMAN			1	17	-			3			Cytoplasmic (Potential).		A8K4Y4|Q53G07	Missense_Mutation	SNP	ENST00000252593.6	37	c.8C>G	CCDS12358.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346359	0.24426	.	.	ENSG00000130303	ENST00000416178;ENST00000252593	T	0.50548	0.74	2.89	0.538	0.17150	.	0.545801	0.13912	N	0.354212	T	0.18718	0.0449	N	0.08118	0	0.09310	N	1	P	0.40230	0.708	B	0.26614	0.071	T	0.13072	-1.0523	10	0.87932	D	0	-4.3356	5.0477	0.14492	0.3151:0.0:0.6849:0.0	.	3	Q10589	BST2_HUMAN	C	3	ENSP00000252593:S3C	ENSP00000252593:S3C	S	-	2	0	BST2	17377377	0.008000	0.16893	0.001000	0.08648	0.023000	0.10783	1.852000	0.39348	0.218000	0.20820	0.491000	0.48974	TCT		PASS	0.512	BST2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387346.1	NM_004335		11	164	11	164	---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17735674	17735674	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:17735674C>G	ENST00000519716.2	-	35	4160	c.4161G>C	c.(4159-4161)gaG>gaC	p.E1387D	UNC13A_ENST00000552293.1_Missense_Mutation_p.E1387D|UNC13A_ENST00000252773.7_Missense_Mutation_p.E1387D|UNC13A_ENST00000550896.1_Missense_Mutation_p.E1385D|UNC13A_ENST00000551649.1_Missense_Mutation_p.E1387D|UNC13A_ENST00000428389.2_Missense_Mutation_p.E1475D	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1387	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.E1387D(1)|p.E1475D(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGATGGTTTTCTCCATGGTGT	0.587																																						uc002nhd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(4423-4425)GAG>GAC		unc-13 homolog A							60.0	67.0	65.0					19																	17735674		2006	4176	6182	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17735674C>G	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4161G>C	19.37:g.17735674C>G	ENSP00000429562:p.Glu1387Asp						p.E1475D	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			35	4425	-			1387			MHD2.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.4425G>C	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456826	0.63401	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	4.11	3.03	0.35002	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.000000	0.85682	U	0.000000	D	0.87212	0.6121	M	0.89715	3.055	0.40587	D	0.981454	D	0.76494	0.999	D	0.74348	0.983	D	0.86127	0.1572	10	0.72032	D	0.01	-17.0963	5.8232	0.18538	0.0:0.7188:0.0:0.2812	.	1387	Q9UPW8	UN13A_HUMAN	D	1387;1475;1387;1387;1387;1385	ENSP00000429562:E1387D;ENSP00000400409:E1475D;ENSP00000252773:E1387D;ENSP00000447236:E1387D;ENSP00000447572:E1387D;ENSP00000446831:E1385D	ENSP00000252773:E1387D	E	-	3	2	UNC13A	17596674	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.513000	0.35823	0.792000	0.33850	0.306000	0.20318	GAG		PASS	0.587	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		11	66	11	66	---	---	---	---
SLC5A5	6528	broad.mit.edu	37	19	17986877	17986877	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:17986877C>G	ENST00000222248.3	+	5	1007	c.660C>G	c.(658-660)ctC>ctG	p.L220L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	220					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.L220L(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCCAGGTGCTCACGCTGGCCC	0.607																																					Melanoma(65;1008 1708 7910 46650)	uc002nhr.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(658-660)CTC>CTG		solute carrier family 5 (sodium iodide							226.0	175.0	192.0					19																	17986877		2203	4300	6503	SO:0001819	synonymous_variant	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17986877C>G		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.660C>G	19.37:g.17986877C>G							p.L220L	NM_000453	NP_000444	Q92911	SC5A5_HUMAN			5	1007	+			220			Extracellular (Potential).		O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	c.660C>G	CCDS12368.1																																																																																				PASS	0.607	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			72	97	72	97	---	---	---	---
SLC5A5	6528	broad.mit.edu	37	19	17992823	17992823	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:17992823C>G	ENST00000222248.3	+	9	1460	c.1113C>G	c.(1111-1113)atC>atG	p.I371M		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	371					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.I371M(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AAGACCTCATCAAACCTCGGC	0.592																																					Melanoma(65;1008 1708 7910 46650)	uc002nhr.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1111-1113)ATC>ATG		solute carrier family 5 (sodium iodide							90.0	86.0	88.0					19																	17992823		2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17992823C>G		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1113C>G	19.37:g.17992823C>G	ENSP00000222248:p.Ile371Met						p.I371M	NM_000453	NP_000444	Q92911	SC5A5_HUMAN			9	1460	+			371			Cytoplasmic (Potential).		O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.1113C>G	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	C	7.907	0.735726	0.15574	.	.	ENSG00000105641	ENST00000222248	D	0.87729	-2.29	4.36	0.969	0.19686	.	0.291746	0.34067	N	0.004296	D	0.82715	0.5097	M	0.73598	2.24	0.32899	D	0.512976	P	0.41710	0.76	B	0.39935	0.314	T	0.80854	-0.1196	10	0.62326	D	0.03	.	3.0917	0.06296	0.189:0.478:0.0:0.333	.	371	Q92911	SC5A5_HUMAN	M	371	ENSP00000222248:I371M	ENSP00000222248:I371M	I	+	3	3	SLC5A5	17853823	0.998000	0.40836	0.997000	0.53966	0.070000	0.16714	0.656000	0.24948	0.121000	0.18284	0.561000	0.74099	ATC		PASS	0.592	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			6	90	6	90	---	---	---	---
ELL	8178	broad.mit.edu	37	19	18561345	18561345	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:18561345C>G	ENST00000262809.4	-	8	1478	c.1407G>C	c.(1405-1407)caG>caC	p.Q469H	ELL_ENST00000596124.3_Missense_Mutation_p.Q336H	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	469					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)	p.Q469H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		AGTCTGGAAGCTGGGCCCGGG	0.667			T	MLL	AL																																	uc002njh.2				Dom	yes		19	19p13.1	8178	T	ELL gene (11-19 lysine-rich leukemia gene)			L	MLL		AL		1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1405-1407)CAG>CAC		elongation factor RNA polymerase II							43.0	37.0	39.0					19																	18561345		2202	4299	6501	SO:0001583	missense	8178				positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding	g.chr19:18561345C>G	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1407G>C	19.37:g.18561345C>G	ENSP00000262809:p.Gln469His					ELL_uc010ebq.2_Missense_Mutation_p.Q412H|ELL_uc002njg.2_Missense_Mutation_p.Q336H	p.Q469H	NM_006532	NP_006523	P55199	ELL_HUMAN		GBM - Glioblastoma multiforme(1328;7.81e-07)	8	1479	-			469						Missense_Mutation	SNP	ENST00000262809.4	37	c.1407G>C	CCDS12380.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485415	0.26686	.	.	ENSG00000105656	ENST00000262809	T	0.23348	1.91	4.94	1.64	0.23874	.	2.370100	0.02341	U	0.074887	T	0.13756	0.0333	N	0.08118	0	0.09310	N	1	P;B	0.35600	0.511;0.291	B;B	0.28232	0.087;0.087	T	0.20773	-1.0265	10	0.52906	T	0.07	-8.2252	6.7588	0.23528	0.0:0.6065:0.0:0.3935	.	413;469	Q59HG4;P55199	.;ELL_HUMAN	H	469	ENSP00000262809:Q469H	ENSP00000262809:Q469H	Q	-	3	2	ELL	18422345	0.000000	0.05858	0.001000	0.08648	0.124000	0.20399	-0.355000	0.07671	0.134000	0.18681	0.643000	0.83706	CAG		PASS	0.667	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		4	71	4	71	---	---	---	---
SUGP2	10147	broad.mit.edu	37	19	19141784	19141784	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:19141784C>T	ENST00000601879.1	-	2	394	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	SUGP2_ENST00000456085.2_5'UTR|SUGP2_ENST00000452918.2_Missense_Mutation_p.E33K|ARMC6_ENST00000546344.1_5'Flank|ARMC6_ENST00000269932.6_5'Flank|ARMC6_ENST00000392335.2_5'Flank|SUGP2_ENST00000600377.1_Missense_Mutation_p.E47K|SUGP2_ENST00000337018.6_Missense_Mutation_p.E33K|ARMC6_ENST00000535612.1_5'Flank|SUGP2_ENST00000598202.1_Intron			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	33					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E33K(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TGAAGAGTTTCGCTTACAGCC	0.408																																						uc002nkx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)GAA>AAA		splicing factor, arginine/serine-rich 14							248.0	227.0	234.0					19																	19141784		2203	4300	6503	SO:0001583	missense	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19141784C>T	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.97G>A	19.37:g.19141784C>T	ENSP00000472286:p.Glu33Lys					SFRS14_uc002nkz.1_Missense_Mutation_p.E47K|SFRS14_uc002nla.1_Missense_Mutation_p.E33K|SFRS14_uc002nlb.2_Missense_Mutation_p.E33K|SFRS14_uc010xqk.1_5'UTR|ARMC6_uc002nlc.2_5'Flank|ARMC6_uc002nld.2_5'Flank|ARMC6_uc010xql.1_5'Flank|ARMC6_uc002nle.2_5'Flank	p.E33K	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)		2	243	-			33					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	c.97G>A	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647901	0.67358	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918	T;T;T	0.12569	2.67;2.68;2.67	5.1	4.07	0.47477	.	0.622865	0.15582	N	0.254882	T	0.08223	0.0205	N	0.14661	0.345	0.80722	D	1	P;P	0.49253	0.921;0.804	B;B	0.37601	0.254;0.042	T	0.24012	-1.0172	10	0.51188	T	0.08	-8.267	12.0377	0.53435	0.0:0.915:0.0:0.085	.	33;33	A8K5G0;Q8IX01	.;SUGP2_HUMAN	K	33	ENSP00000337926:E33K;ENSP00000332373:E33K;ENSP00000389380:E33K	ENSP00000332373:E33K	E	-	1	0	SUGP2	19002784	0.504000	0.26123	0.012000	0.15200	0.855000	0.48748	1.436000	0.34980	1.131000	0.42111	0.650000	0.86243	GAA		PASS	0.408	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		30	503	30	503	---	---	---	---
NDUFA13	51079	broad.mit.edu	37	19	19636994	19636994	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:19636994A>G	ENST00000507754.4	+	2	582	c.98A>G	c.(97-99)tAc>tGc	p.Y33C	YJEFN3_ENST00000514277.4_5'Flank|YJEFN3_ENST00000608404.1_Missense_Mutation_p.Y33C|NDUFA13_ENST00000503283.1_Missense_Mutation_p.Y33C|NDUFA13_ENST00000512771.3_Missense_Mutation_p.Y33C|YJEFN3_ENST00000436027.5_5'Flank|NDUFA13_ENST00000428459.2_Missense_Mutation_p.Y33C|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000252576.5_Missense_Mutation_p.Y116C|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.Y33C			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	33					apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.Y116C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						TTCACAGGCTACAGCATGCTG	0.637																																						uc010xqy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(346-348)TAC>TGC		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						68.0	55.0	59.0					19																	19636994		2202	4300	6502	SO:0001583	missense	51079				apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm	ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr19:19636994A>G	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.98A>G	19.37:g.19636994A>G	ENSP00000423673:p.Tyr33Cys					NDUFA13_uc002nms.2_Missense_Mutation_p.Y116C|NDUFA13_uc010xqx.1_Missense_Mutation_p.Y116C|YJEFN3_uc002nmt.1_5'Flank|YJEFN3_uc010ecf.1_5'Flank|YJEFN3_uc002nmu.1_5'Flank	p.Y116C	NM_015965	NP_057049	Q9P0J0	NDUAD_HUMAN			2	606	+			33			Helical; (Potential).		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.347A>G	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	A	18.14	3.556526	0.65425	.	.	ENSG00000186010;ENSG00000186010;ENSG00000250067;ENSG00000258674	ENST00000507754;ENST00000252576;ENST00000553705;ENST00000555938	T;T;T	0.78003	-1.14;-1.14;-1.14	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000001	D	0.87724	0.6249	M	0.85542	2.76	0.29691	N	0.840929	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.75484	0.979;0.986;0.986	D	0.84783	0.0774	10	0.49607	T	0.09	.	11.2761	0.49168	1.0:0.0:0.0:0.0	.	33;33;33	E7ENQ6;B4DF76;Q9P0J0	.;.;NDUAD_HUMAN	C	33;116;33;33	ENSP00000423673:Y33C;ENSP00000252576:Y116C;ENSP00000452549:Y33C	ENSP00000252576:Y116C	Y	+	2	0	YJEFN3;NDUFA13;CTC-260F20.3	19497994	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	5.147000	0.64851	1.935000	0.56089	0.477000	0.44152	TAC		PASS	0.637	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		18	21	18	21	---	---	---	---
CILP2	148113	broad.mit.edu	37	19	19654817	19654817	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:19654817T>A	ENST00000291495.5	+	8	1548	c.1463T>A	c.(1462-1464)cTa>cAa	p.L488Q	CILP2_ENST00000586018.1_Missense_Mutation_p.L494Q	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	488						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.L488Q(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGGGAGCCGCTACGCTTCGCC	0.677																																						uc002nmv.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1462-1464)CTA>CAA		cartilage intermediate layer protein 2							25.0	29.0	27.0					19																	19654817		2203	4298	6501	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19654817T>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1463T>A	19.37:g.19654817T>A	ENSP00000291495:p.Leu488Gln					CILP2_uc002nmw.3_Missense_Mutation_p.L494Q	p.L488Q	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	1548	+			488					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1463T>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.544418	0.45280	.	.	ENSG00000160161	ENST00000291495	T	0.48201	0.82	4.0	4.0	0.46444	Carbohydrate-binding-like fold (1);	0.080983	0.51477	D	0.000087	T	0.62986	0.2473	L	0.61218	1.895	0.49687	D	0.999815	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.66093	-0.6009	10	0.87932	D	0	-0.2319	10.9303	0.47213	0.0:0.0:0.0:1.0	.	488;488	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	Q	488	ENSP00000291495:L488Q	ENSP00000291495:L488Q	L	+	2	0	CILP2	19515817	1.000000	0.71417	0.980000	0.43619	0.161000	0.22273	6.084000	0.71335	1.470000	0.48102	0.347000	0.21830	CTA		PASS	0.677	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		10	13	10	13	---	---	---	---
ZNF253	56242	broad.mit.edu	37	19	20002737	20002737	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:20002737C>G	ENST00000589717.1	+	4	773	c.681C>G	c.(679-681)ccC>ccG	p.P227P	CTC-559E9.8_ENST00000585571.1_RNA|AC011477.1_ENST00000578823.1_RNA|ZNF253_ENST00000355650.4_Silent_p.P151P	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	227				Missing (in Ref. 1; AAC26844). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P227P(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGAGAAACCCTACAGATGTG	0.383																																						uc002noj.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(679-681)CCC>CCG		zinc finger protein 253							41.0	45.0	44.0					19																	20002737		2170	4283	6453	SO:0001819	synonymous_variant	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20002737C>G	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.681C>G	19.37:g.20002737C>G						ZNF253_uc002nok.2_Silent_p.P151P|ZNF253_uc002nol.2_RNA	p.P227P	NM_021047	NP_066385	O75346	ZN253_HUMAN			4	773	+			227	Missing (in Ref. 1; AAC26844).				A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Silent	SNP	ENST00000589717.1	37	c.681C>G	CCDS42532.1																																																																																				PASS	0.383	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		10	105	10	105	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23544021	23544021	+	Nonsense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:23544021G>C	ENST00000300619.7	-	4	1965	c.1760C>G	c.(1759-1761)tCa>tGa	p.S587*	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Nonsense_Mutation_p.S555*	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	587					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S587*(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGAAAGACTTGAGGAATGATT	0.353																																						uc002nre.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1759-1761)TCA>TGA		zinc finger protein 91							44.0	47.0	46.0					19																	23544021		2132	4261	6393	SO:0001587	stop_gained	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544021G>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1760C>G	19.37:g.23544021G>C	ENSP00000300619:p.Ser587*					ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Nonsense_Mutation_p.S555*	p.S587*	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	1873	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	587			C2H2-type 16.		A8K5E1|B7Z6G6	Nonsense_Mutation	SNP	ENST00000300619.7	37	c.1760C>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286490	0.59867	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	.	.	.	1.78	1.78	0.24846	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	7.2149	0.25955	0.0:0.0:0.7357:0.2643	.	.	.	.	X	587;555	.	ENSP00000300619:S587X	S	-	2	0	ZNF91	23335861	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-2.131000	0.01311	0.962000	0.38057	0.313000	0.20887	TCA		PASS	0.353	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		10	169	10	169	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23544679	23544679	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:23544679G>C	ENST00000300619.7	-	4	1307	c.1102C>G	c.(1102-1104)Cat>Gat	p.H368D	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H336D	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	368					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.H368D(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GTTATCTTATGATTAGCAAGG	0.348																																						uc002nre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1102-1104)CAT>GAT		zinc finger protein 91							40.0	42.0	41.0					19																	23544679		1973	4182	6155	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544679G>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1102C>G	19.37:g.23544679G>C	ENSP00000300619:p.His368Asp					ZNF91_uc010xrj.1_Missense_Mutation_p.H336D	p.H368D	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	1215	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	368			C2H2-type 8.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1102C>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	9.000	0.979901	0.18812	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	D;D	0.86769	-2.17;-2.17	1.65	0.357	0.16079	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94676	0.8283	H	0.96691	3.865	0.28004	N	0.935165	D;D	0.67145	0.996;0.996	D;D	0.75484	0.986;0.942	D	0.87050	0.2146	9	0.87932	D	0	.	8.3569	0.32335	0.0:0.2472:0.7527:0.0	.	336;368	Q05481-2;Q05481	.;ZNF91_HUMAN	D	368;336	ENSP00000300619:H368D;ENSP00000380272:H336D	ENSP00000300619:H368D	H	-	1	0	ZNF91	23336519	1.000000	0.71417	0.000000	0.03702	0.012000	0.07955	4.735000	0.62051	-0.011000	0.14247	0.162000	0.16502	CAT		PASS	0.348	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		79	133	79	133	---	---	---	---
ZNF254	9534	broad.mit.edu	37	19	24289358	24289358	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:24289358G>C	ENST00000357002.4	+	3	281	c.166G>C	c.(166-168)Gtc>Ctc	p.V56L	ZNF254_ENST00000339642.6_Missense_Mutation_p.V56L|ZNF254_ENST00000342944.6_Intron	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V56L(1)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGGTATTGCTGTCTCTAAGCC	0.398																																						uc002nru.2																			1	Substitution - Missense(1)		lung(1)		0						c.(166-168)GTC>CTC		zinc finger protein 254							99.0	112.0	107.0					19																	24289358		1511	2709	4220	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24289358G>C	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.166G>C	19.37:g.24289358G>C	ENSP00000349494:p.Val56Leu					ZNF254_uc010xrk.1_Intron|ZNF254_uc002nrt.1_RNA	p.V56L	NM_203282	NP_975011	O75437	ZN254_HUMAN			3	300	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	56			KRAB.		A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.166G>C	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	G	6.004	0.369184	0.11352	.	.	ENSG00000213096	ENST00000357002;ENST00000392281;ENST00000339642	T;T	0.00801	5.68;5.68	0.225	0.225	0.15325	Krueppel-associated box (3);	.	.	.	.	T	0.00637	0.0021	N	0.10707	0.03	0.09310	N	0.999996	B	0.14012	0.009	B	0.12837	0.008	T	0.46803	-0.9165	8	0.56958	D	0.05	.	.	.	.	.	56	O75437	ZN254_HUMAN	L	56	ENSP00000349494:V56L;ENSP00000341573:V56L	ENSP00000341573:V56L	V	+	1	0	ZNF254	24081198	0.000000	0.05858	0.168000	0.22838	0.171000	0.22731	-0.194000	0.09559	0.300000	0.22699	0.305000	0.20034	GTC		PASS	0.398	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		61	126	61	126	---	---	---	---
LRP3	4037	broad.mit.edu	37	19	33695573	33695573	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:33695573A>T	ENST00000253193.7	+	4	492	c.290A>T	c.(289-291)cAc>cTc	p.H97L	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	97	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)		p.H97L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GAGGAGTCCCACCAGTGCTCC	0.672																																						uc010edh.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(289-291)CAC>CTC		low density lipoprotein receptor-related protein							74.0	79.0	77.0					19																	33695573		2203	4299	6502	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33695573A>T	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.290A>T	19.37:g.33695573A>T	ENSP00000253193:p.His97Leu					LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.3_5'UTR	p.H97L	NM_002333	NP_002324	O75074	LRP3_HUMAN			4	383	+	Esophageal squamous(110;0.137)		97			Extracellular (Potential).|CUB 1.		B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.290A>T	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.619687	0.46736	.	.	ENSG00000130881	ENST00000253193	T	0.17370	2.28	4.11	4.11	0.48088	CUB (5);	0.678687	0.15025	N	0.284810	T	0.12774	0.0310	L	0.28054	0.825	0.80722	D	1	P	0.39576	0.679	B	0.37387	0.248	T	0.14062	-1.0486	10	0.27785	T	0.31	-40.8483	12.7277	0.57180	1.0:0.0:0.0:0.0	.	97	O75074	LRP3_HUMAN	L	97	ENSP00000253193:H97L	ENSP00000253193:H97L	H	+	2	0	LRP3	38387413	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.469000	0.45110	1.860000	0.53959	0.459000	0.35465	CAC		PASS	0.672	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			98	102	98	102	---	---	---	---
FFAR3	2865	broad.mit.edu	37	19	35849879	35849879	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:35849879C>G	ENST00000327809.4	+	2	288	c.87C>G	c.(85-87)ctC>ctG	p.L29L	FFAR3_ENST00000594310.1_Silent_p.L29L	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	29					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.L29L(2)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGGTGGGGCTCCCCCTCAACC	0.647																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	uc002nzd.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(85-87)CTC>CTG		free fatty acid receptor 3							88.0	82.0	84.0					19																	35849879		2199	4292	6491	SO:0001819	synonymous_variant	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35849879C>G	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.87C>G	19.37:g.35849879C>G						FFAR3_uc010xsu.1_RNA	p.L29L	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	162	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		29			Helical; Name=1; (Potential).		B2RWM8|Q14CM7	Silent	SNP	ENST00000327809.4	37	c.87C>G	CCDS12459.1																																																																																				PASS	0.647	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		7	198	7	198	---	---	---	---
NPHS1	4868	broad.mit.edu	37	19	36342189	36342189	+	Silent	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:36342189A>G	ENST00000378910.5	-	3	371	c.372T>C	c.(370-372)tcT>tcC	p.S124S	NPHS1_ENST00000353632.6_Silent_p.S124S|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	124	Ig-like C2-type 1.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.S124S(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCACTCTGGGAGACACGAGCT	0.622																																						uc002oby.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(370-372)TCT>TCC		nephrin precursor							36.0	38.0	37.0					19																	36342189		2203	4300	6503	SO:0001819	synonymous_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36342189A>G		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.372T>C	19.37:g.36342189A>G							p.S124S	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	372	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		124			Extracellular (Potential).|Ig-like C2-type 1.		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	c.372T>C	CCDS32996.1																																																																																				PASS	0.622	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			5	78	5	78	---	---	---	---
KIRREL2	84063	broad.mit.edu	37	19	36348353	36348353	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:36348353G>A	ENST00000360202.5	+	2	366	c.168G>A	c.(166-168)tgG>tgA	p.W56*	KIRREL2_ENST00000262625.7_Nonsense_Mutation_p.W56*|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000592409.1_Nonsense_Mutation_p.W56*|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	56	Ig-like C2-type 1.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.W56*(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TAGTTCAGTGGACTAAGAGTG	0.652																																						uc002ocb.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(166-168)TGG>TGA		kin of IRRE-like 2 isoform c							47.0	56.0	53.0					19																	36348353		2203	4300	6503	SO:0001587	stop_gained	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36348353G>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.168G>A	19.37:g.36348353G>A	ENSP00000353331:p.Trp56*					KIRREL2_uc002obz.3_Nonsense_Mutation_p.W56*|KIRREL2_uc002oca.3_Intron|KIRREL2_uc002occ.3_Intron|KIRREL2_uc002ocd.3_Nonsense_Mutation_p.W53*	p.W56*	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	380	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		56			Ig-like C2-type 1.|Extracellular (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Nonsense_Mutation	SNP	ENST00000360202.5	37	c.168G>A	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	38	7.130334	0.98085	.	.	ENSG00000126259	ENST00000262625;ENST00000360202;ENST00000341658	.	.	.	5.35	5.35	0.76521	.	0.000000	0.44902	D	0.000409	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0898	14.9787	0.71296	0.0:0.0:1.0:0.0	.	.	.	.	X	56	.	ENSP00000262625:W56X	W	+	3	0	KIRREL2	41040193	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	7.901000	0.87382	2.672000	0.90937	0.650000	0.86243	TGG		PASS	0.652	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		8	207	8	207	---	---	---	---
ZNF345	25850	broad.mit.edu	37	19	37369115	37369115	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:37369115G>A	ENST00000529555.1	+	2	2171	c.1383G>A	c.(1381-1383)aaG>aaA	p.K461K	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Silent_p.K461K|ZNF345_ENST00000420450.1_Silent_p.K461K|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	461					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K461K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTGTGGGAAGGCTTATGGGA	0.388																																						uc002oex.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1381-1383)AAG>AAA		zinc finger protein 345							90.0	97.0	94.0					19																	37369115		2203	4300	6503	SO:0001819	synonymous_variant	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37369115G>A	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.1383G>A	19.37:g.37369115G>A						ZNF345_uc002oey.3_Silent_p.K461K|ZNF345_uc002oez.2_Intron	p.K461K	NM_003419	NP_003410	Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	1761	+	Esophageal squamous(110;0.183)		461			C2H2-type 15.			Silent	SNP	ENST00000529555.1	37	c.1383G>A	CCDS12497.1																																																																																				PASS	0.388	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			79	334	79	334	---	---	---	---
ZNF527	84503	broad.mit.edu	37	19	37879981	37879981	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:37879981C>G	ENST00000436120.2	+	5	1137	c.1030C>G	c.(1030-1032)Cac>Gac	p.H344D	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	344					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.H344D(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACAGAGTGCTCACCTTGCTCA	0.438																																						uc010efk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1030-1032)CAC>GAC		zinc finger protein 527							86.0	91.0	90.0					19																	37879981		2196	4294	6490	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37879981C>G	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1030C>G	19.37:g.37879981C>G	ENSP00000390179:p.His344Asp					ZNF527_uc002ogf.3_Missense_Mutation_p.H312D|ZNF527_uc010xtq.1_RNA	p.H344D	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1141	+			344			C2H2-type 3.		B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.1030C>G	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601007	0.28534	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.19	0.432	0.16529	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36134	N	0.002770	T	0.15046	0.0363	N	0.04787	-0.16	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.14023	0.009;0.01	T	0.18272	-1.0342	9	0.33141	T	0.24	.	7.2956	0.26391	0.4023:0.3273:0.2704:0.0	.	344;312	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	D	344;312;292	.	ENSP00000325231:H312D	H	+	1	0	ZNF527	42571821	0.000000	0.05858	0.269000	0.24586	0.990000	0.78478	-3.251000	0.00540	0.381000	0.24851	0.655000	0.94253	CAC		PASS	0.438	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		9	267	9	267	---	---	---	---
ZNF781	163115	broad.mit.edu	37	19	38160578	38160578	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:38160578G>C	ENST00000590008.1	-	5	1324	c.472C>G	c.(472-474)Caa>Gaa	p.Q158E	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000358582.4_Missense_Mutation_p.Q158E|ZNF781_ENST00000593040.1_5'Flank			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	158					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.Q158E(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						AATAAGAGTTGAGCGATTGTT	0.388																																						uc002ogy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(472-474)CAA>GAA		zinc finger protein 781							117.0	116.0	117.0					19																	38160578		2203	4300	6503	SO:0001583	missense	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160578G>C	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.472C>G	19.37:g.38160578G>C	ENSP00000466370:p.Gln158Glu					ZNF781_uc002ogz.2_Missense_Mutation_p.Q153E	p.Q158E	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN			4	1214	-			158					Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	c.472C>G	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	G	7.572	0.666852	0.14710	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.07114	3.22	2.3	-0.166	0.13351	.	.	.	.	.	T	0.08537	0.0212	M	0.63843	1.955	0.09310	N	1	B	0.27625	0.183	B	0.16722	0.016	T	0.28332	-1.0047	9	0.87932	D	0	6.2031	4.6648	0.12660	0.1204:0.0:0.5149:0.3647	.	158	Q8N8C0	ZN781_HUMAN	E	158	ENSP00000351391:Q158E	ENSP00000351391:Q158E	Q	-	1	0	ZNF781	42852418	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.211000	0.17474	-0.084000	0.12595	-0.507000	0.04495	CAA		PASS	0.388	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		78	407	78	407	---	---	---	---
FAM98C	147965	broad.mit.edu	37	19	38896018	38896018	+	Missense_Mutation	SNP	C	C	G	rs139841886		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:38896018C>G	ENST00000252530.5	+	5	609	c.590C>G	c.(589-591)tCc>tGc	p.S197C	FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	197								p.S197C(1)|p.S197F(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCCCAGGGTCCCTGCAGCCC	0.582																																						uc002oin.1																			2	Substitution - Missense(2)	p.S197F(1)	lung(1)|skin(1)	skin(1)	1						c.(589-591)TCC>TGC		hypothetical protein LOC147965							63.0	64.0	64.0					19																	38896018		2088	4231	6319	SO:0001583	missense	147965							g.chr19:38896018C>G		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.590C>G	19.37:g.38896018C>G	ENSP00000252530:p.Ser197Cys					FAM98C_uc002oio.1_Intron|FAM98C_uc010xtz.1_Intron	p.S197C	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		5	609	+	all_cancers(60;3.95e-06)		197					A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	c.590C>G	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159169	0.57368	.	.	ENSG00000130244	ENST00000252530	T	0.46451	0.87	4.9	1.21	0.21127	.	0.996046	0.08131	N	0.993136	T	0.49932	0.1586	M	0.63843	1.955	0.80722	D	1	D	0.64830	0.994	P	0.57371	0.819	T	0.51521	-0.8695	10	0.38643	T	0.18	-1.4453	3.3603	0.07184	0.2477:0.5099:0.0:0.2424	.	197	Q17RN3	FA98C_HUMAN	C	197	ENSP00000252530:S197C	ENSP00000252530:S197C	S	+	2	0	FAM98C	43587858	0.072000	0.21174	0.897000	0.35233	0.812000	0.45895	0.113000	0.15499	0.415000	0.25817	0.558000	0.71614	TCC		PASS	0.582	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		34	141	34	141	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38980838	38980838	+	Silent	SNP	C	C	T	rs193922786		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:38980838C>T	ENST00000359596.3	+	36	5937	c.5937C>T	c.(5935-5937)ctC>ctT	p.L1979L	RYR1_ENST00000355481.4_Silent_p.L1979L|RYR1_ENST00000360985.3_Silent_p.L1979L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1979	6 X approximate repeats.				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.L1979L(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)	GCTATGGCCTCCTCATAAAAG	0.617																																						uc002oit.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(5935-5937)CTC>CTT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						63.0	56.0	59.0					19																	38980838		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:38980838C>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.5937C>T	19.37:g.38980838C>T						RYR1_uc002oiu.2_Silent_p.L1979L	p.L1979L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		36	6067	+	all_cancers(60;7.91e-06)		1979			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.5937C>T	CCDS33011.1																																																																																				PASS	0.617	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			19	58	19	58	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39055641	39055641	+	Missense_Mutation	SNP	G	G	A	rs118192128		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:39055641G>A	ENST00000359596.3	+	91	12667	c.12667G>A	c.(12667-12669)Gag>Aag	p.E4223K	RYR1_ENST00000355481.4_Missense_Mutation_p.E4218K|RYR1_ENST00000360985.3_Missense_Mutation_p.E4218K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4223					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.E4223K(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)	CGTGGTGAACGAGGGCGGCGA	0.637																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(12667-12669)GAG>AAG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						29.0	23.0	25.0					19																	39055641		2201	4297	6498	SO:0001583	missense	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.chr19:39055641G>A	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.12667G>A	19.37:g.39055641G>A	ENSP00000352608:p.Glu4223Lys					RYR1_uc002oiu.2_Missense_Mutation_p.E4218K|RYR1_uc002oiv.1_Missense_Mutation_p.E1132K	p.E4223K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		91	12797	+	all_cancers(60;7.91e-06)		4223					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.12667G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496836	0.44352	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98028	-4.67;-4.67;-4.67	3.07	1.98	0.26296	.	0.000000	0.64402	U	0.000002	D	0.98588	0.9528	M	0.90082	3.085	0.44852	D	0.997864	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74023	0.982;0.982;0.959	D	0.98519	1.0622	10	0.59425	D	0.04	.	11.1846	0.48648	0.0:0.0:0.8142:0.1858	.	4218;4218;4223	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	K	4223;4218;4218	ENSP00000352608:E4223K;ENSP00000347667:E4218K;ENSP00000354254:E4218K	ENSP00000347667:E4218K	E	+	1	0	RYR1	43747481	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.449000	0.97603	0.617000	0.30160	-0.443000	0.05667	GAG		PASS	0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			4	6	4	6	---	---	---	---
MAP4K1	11184	broad.mit.edu	37	19	39086131	39086131	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:39086131C>T	ENST00000591517.1	-	29	2362	c.2334G>A	c.(2332-2334)tcG>tcA	p.S778S	CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000396857.2_Silent_p.S778S|MAP4K1_ENST00000586296.1_Silent_p.S352S|MAP4K1_ENST00000589130.1_Silent_p.S774S	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	778	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.S778S(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTACCTGATCCGAGCCTAGAG	0.567																																						uc002oix.1																			2	Substitution - coding silent(2)		lung(2)	skin(4)|lung(3)|ovary(1)	8						c.(2332-2334)TCG>TCA		mitogen-activated protein kinase kinase kinase							71.0	79.0	76.0					19																	39086131		2090	4220	6310	SO:0001819	synonymous_variant	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39086131C>T	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.2334G>A	19.37:g.39086131C>T						MAP4K1_uc002oiw.1_Silent_p.S365S|MAP4K1_uc002oiy.1_Silent_p.S778S	p.S778S	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		29	2442	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		778			CNH.			Silent	SNP	ENST00000591517.1	37	c.2334G>A	CCDS59385.1																																																																																				PASS	0.567	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		6	97	6	97	---	---	---	---
FBXO27	126433	broad.mit.edu	37	19	39521733	39521733	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:39521733C>T	ENST00000292853.4	-	4	627	c.508G>A	c.(508-510)Gag>Aag	p.E170K	FBXO27_ENST00000600828.1_Missense_Mutation_p.E169K|FBXO27_ENST00000509137.2_Missense_Mutation_p.E170K|CTB-189B5.3_ENST00000597303.1_RNA	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	170	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)	p.E170K(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CCCTCCTCCTCTAGGTCCAAG	0.522																																						uc002okh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(508-510)GAG>AAG		F-box protein 27							170.0	151.0	158.0					19																	39521733		2203	4300	6503	SO:0001583	missense	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39521733C>T	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.508G>A	19.37:g.39521733C>T	ENSP00000292853:p.Glu170Lys						p.E170K	NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		4	590	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		170			FBA.		Q96C87	Missense_Mutation	SNP	ENST00000292853.4	37	c.508G>A	CCDS12527.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387361	0.25031	.	.	ENSG00000161243	ENST00000292853;ENST00000509137	T;T	0.26810	1.71;1.71	3.82	-0.0805	0.13706	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	1.413970	0.05083	N	0.483915	T	0.11495	0.0280	N	0.04686	-0.185	0.22468	N	0.999075	P	0.38300	0.626	B	0.34722	0.188	T	0.10847	-1.0612	10	0.07325	T	0.83	-9.3621	11.0161	0.47689	0.0:0.4253:0.5747:0.0	.	170	Q8NI29	FBX27_HUMAN	K	170	ENSP00000292853:E170K;ENSP00000437662:E170K	ENSP00000292853:E170K	E	-	1	0	FBXO27	44213573	0.000000	0.05858	0.990000	0.47175	0.942000	0.58702	-0.516000	0.06282	0.360000	0.24265	0.479000	0.44913	GAG		PASS	0.522	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			191	204	191	204	---	---	---	---
PLEKHG2	64857	broad.mit.edu	37	19	39914967	39914967	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:39914967A>T	ENST00000409794.3	+	19	4044	c.3194A>T	c.(3193-3195)cAg>cTg	p.Q1065L	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.Q1006L|PLEKHG2_ENST00000378550.1_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.Q1036L|PLEKHG2_ENST00000409797.2_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1065					apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q1065L(1)|p.Q1023L(1)|p.Q1006L(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGGATGTTCAGGGCCCAGAC	0.587																																						uc010xuz.1																			3	Substitution - Missense(3)		lung(3)	skin(2)|pancreas(1)|breast(1)	4						c.(3193-3195)CAG>CTG		common-site lymphoma/leukemia guanine nucleotide							130.0	130.0	130.0					19																	39914967		2203	4300	6503	SO:0001583	missense	64857				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	Rho guanyl-nucleotide exchange factor activity	g.chr19:39914967A>T	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.3194A>T	19.37:g.39914967A>T	ENSP00000386733:p.Gln1065Leu					PLEKHG2_uc010xuy.1_Missense_Mutation_p.Q1006L|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.Q843L	p.Q1065L	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		19	3519	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		1065					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.3194A>T	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.954|7.954	0.745449|0.745449	0.15710|0.15710	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000458508|ENST00000205135	T;T;T|.	0.70045|.	-0.31;-0.33;-0.45|.	3.68|3.68	-1.52|-1.52	0.08637|0.08637	.|.	1.423640|.	0.04740|.	N|.	0.422667|.	T|T	0.37210|0.37210	0.0995|0.0995	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.06405|.	0.002;0.001;0.001|.	T|T	0.36939|0.36939	-0.9727|-0.9727	10|5	0.72032|.	D|.	0.01|.	.|.	1.2787|1.2787	0.02036|0.02036	0.4939:0.148:0.2159:0.1422|0.4939:0.148:0.2159:0.1422	.|.	1036;1065;1006|.	Q9H7P9-3;Q9H7P9;E7ESZ3|.	.;PKHG2_HUMAN;.|.	L|W	1065;1036;1006|933	ENSP00000386733:Q1065L;ENSP00000392906:Q1036L;ENSP00000408857:Q1006L|.	ENSP00000386733:Q1065L|.	Q|R	+|+	2|1	0|2	PLEKHG2|PLEKHG2	44606807|44606807	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.274000|-0.274000	0.08537|0.08537	-0.777000|-0.777000	0.04572|0.04572	-2.303000|-2.303000	0.00259|0.00259	CAG|AGG		PASS	0.587	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		51	296	51	296	---	---	---	---
DYRK1B	9149	broad.mit.edu	37	19	40316475	40316475	+	Silent	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:40316475T>A	ENST00000593685.1	-	11	2238	c.1770A>T	c.(1768-1770)tcA>tcT	p.S590S	DYRK1B_ENST00000597639.1_Silent_p.S562S|DYRK1B_ENST00000430012.2_Silent_p.S550S|DYRK1B_ENST00000348817.3_Silent_p.S562S|DYRK1B_ENST00000323039.5_Silent_p.S590S			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	590					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)	p.S562S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TCCGGAGGGCTGAGGCAGCCG	0.706																																						uc002omj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7						c.(1768-1770)TCA>TCT		dual-specificity tyrosine-(Y)-phosphorylation							10.0	13.0	12.0					19																	40316475		2180	4269	6449	SO:0001819	synonymous_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316475T>A	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1770A>T	19.37:g.40316475T>A						DYRK1B_uc002omi.2_Silent_p.S562S|DYRK1B_uc002omk.2_Silent_p.S550S	p.S590S	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2050	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		590					O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	c.1770A>T	CCDS12543.1																																																																																				PASS	0.706	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		8	24	8	24	---	---	---	---
LTBP4	8425	broad.mit.edu	37	19	41120352	41120352	+	Splice_Site	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:41120352G>A	ENST00000308370.7	+	22	3013	c.3013G>A	c.(3013-3015)Gat>Aat	p.D1005N	LTBP4_ENST00000243562.9_Splice_Site_p.D103N|LTBP4_ENST00000396819.3_Splice_Site_p.D938N|LTBP4_ENST00000204005.9_Splice_Site_p.D968N|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Splice_Site_p.D458N	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1005	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.D1005N(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACCTGTGACGGTGAGCCTGC	0.697																																						uc002ooh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(3013-3015)GAT>AAT		latent transforming growth factor beta binding							14.0	17.0	16.0					19																	41120352		1975	4135	6110	SO:0001630	splice_region_variant	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41120352G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3013+1G>A	19.37:g.41120352G>A						LTBP4_uc002oog.1_Missense_Mutation_p.D968N|LTBP4_uc002ooi.1_Missense_Mutation_p.D938N|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Missense_Mutation_p.D225N|LTBP4_uc002ool.1_Missense_Mutation_p.D103N|LTBP4_uc002oom.1_RNA|LTBP4_uc010xvp.1_5'UTR	p.D1005N	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		22	3013	+			1005			Cys-rich.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.3013G>A		.	.	.	.	.	.	.	.	.	.	G	21.5	4.160517	0.78226	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000243562	D;D;D;D;D	0.99051	-5.37;-5.37;-5.37;-5.37;-5.37	4.42	4.42	0.53409	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.000000	0.41396	D	0.000886	D	0.99086	0.9686	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D	0.89917	0.994;1.0;1.0;1.0;1.0	P;D;D;D;D	0.85130	0.698;0.991;0.995;0.997;0.997	D	0.98858	1.0761	10	0.49607	T	0.09	.	9.7176	0.40284	0.0:0.0:0.7931:0.2069	.	103;311;938;1005;968	Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	N	968;458;1005;938;103	ENSP00000204005:D968N;ENSP00000441054:D458N;ENSP00000311905:D1005N;ENSP00000380031:D938N;ENSP00000243562:D103N	ENSP00000204005:D968N	D	+	1	0	LTBP4	45812192	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	4.904000	0.63279	2.280000	0.76307	0.455000	0.32223	GAT		PASS	0.697	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573	Missense_Mutation	3	16	3	16	---	---	---	---
CNFN	84518	broad.mit.edu	37	19	42891373	42891373	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:42891373C>A	ENST00000222032.5	-	4	320	c.271G>T	c.(271-273)Gcg>Tcg	p.A91S	CNFN_ENST00000597255.1_Missense_Mutation_p.A91S	NM_032488.3	NP_115877.2	Q9BYD5	CNFN_HUMAN	cornifelin	91					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.A91S(1)		lung(1)|prostate(1)	2		Prostate(69;0.00899)				GTGAGGGCCGCCCAGTCGTGC	0.667																																						uc002otp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(271-273)GCG>TCG		cornifelin							30.0	37.0	34.0					19																	42891373		2201	4299	6500	SO:0001583	missense	84518				keratinization	cornified envelope|cytoplasm		g.chr19:42891373C>A	AB049591	CCDS12606.1	19q13.31	2006-01-11				ENSG00000105427			30183	protein-coding gene	gene with protein product		611764					Standard	NM_032488		Approved	PLAC8L2	uc002otp.4	Q9BYD5		ENST00000222032.5:c.271G>T	19.37:g.42891373C>A	ENSP00000222032:p.Ala91Ser					CNFN_uc002otq.3_Missense_Mutation_p.A104S	p.A91S	NM_032488	NP_115877	Q9BYD5	CNFN_HUMAN			4	326	-		Prostate(69;0.00899)	91					B2R569	Missense_Mutation	SNP	ENST00000222032.5	37	c.271G>T	CCDS12606.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756300	0.89843	.	.	ENSG00000105427	ENST00000222032	.	.	.	4.25	4.25	0.50352	.	0.066746	0.64402	D	0.000013	T	0.73361	0.3577	M	0.76838	2.35	0.41601	D	0.988858	P	0.51791	0.948	P	0.54372	0.75	T	0.78152	-0.2315	9	0.59425	D	0.04	-12.3827	14.4738	0.67533	0.0:1.0:0.0:0.0	.	91	Q9BYD5	CNFN_HUMAN	S	91	.	ENSP00000222032:A91S	A	-	1	0	CNFN	47583213	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.895000	0.48648	2.326000	0.78906	0.545000	0.68477	GCG		PASS	0.667	CNFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463859.1	NM_032488		10	39	10	39	---	---	---	---
CEACAM8	1088	broad.mit.edu	37	19	43098952	43098952	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:43098952C>A	ENST00000244336.5	-	1	130	c.29G>T	c.(28-30)aGa>aTa	p.R10I	LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R10I|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	10					immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R10I(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GATGCGCCATCTGCAGGAAGG	0.607																																						uc002oud.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(28-30)AGA>ATA		carcinoembryonic antigen-related cell adhesion							106.0	97.0	100.0					19																	43098952		2203	4300	6503	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43098952C>A	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.29G>T	19.37:g.43098952C>A	ENSP00000244336:p.Arg10Ile					uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	p.R10I	NM_001816	NP_001807	P31997	CEAM8_HUMAN			1	131	-		Prostate(69;0.00899)	10					O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.29G>T	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	c	12.92	2.082438	0.36758	.	.	ENSG00000124469	ENST00000244336	T	0.20463	2.07	1.48	0.383	0.16239	.	.	.	.	.	T	0.44623	0.1302	M	0.91459	3.21	0.09310	N	1	D	0.60160	0.987	P	0.62813	0.907	T	0.24440	-1.0160	9	0.66056	D	0.02	.	3.9377	0.09313	0.0:0.7601:0.0:0.2399	.	10	P31997	CEAM8_HUMAN	I	10	ENSP00000244336:R10I	ENSP00000244336:R10I	R	-	2	0	CEACAM8	47790792	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.638000	0.05452	0.172000	0.19760	0.313000	0.20887	AGA		PASS	0.607	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			26	210	26	210	---	---	---	---
PSG1	5669	broad.mit.edu	37	19	43372279	43372279	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:43372279G>T	ENST00000436291.2	-	5	1333	c.1217C>A	c.(1216-1218)tCc>tAc	p.S406Y	PSG1_ENST00000595124.1_Missense_Mutation_p.S313Y|PSG1_ENST00000595356.1_Missense_Mutation_p.S406Y|PSG1_ENST00000403380.3_Missense_Mutation_p.S313Y|PSG1_ENST00000244296.2_Missense_Mutation_p.S406Y|PSG1_ENST00000312439.6_Missense_Mutation_p.S406Y	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	406	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.S406Y(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CATGGATTTGGAGCTTTCCTT	0.473																																						uc002ovb.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1216-1218)TCC>TAC		pregnancy specific beta-1-glycoprotein 1							222.0	222.0	222.0					19																	43372279		2202	4297	6499	SO:0001583	missense	5669				female pregnancy	extracellular region		g.chr19:43372279G>T		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.1217C>A	19.37:g.43372279G>T	ENSP00000413041:p.Ser406Tyr					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Missense_Mutation_p.S406Y|PSG1_uc010eio.1_Missense_Mutation_p.S406Y|PSG1_uc002oux.1_Missense_Mutation_p.S335Y|PSG1_uc002ouy.1_Missense_Mutation_p.S313Y|PSG1_uc002ouz.1_Missense_Mutation_p.S406Y|PSG1_uc002ova.1_Missense_Mutation_p.S313Y|PSG1_uc002ovc.2_Missense_Mutation_p.S313Y|PSG1_uc002ovd.1_Missense_Mutation_p.S406Y	p.S406Y	NM_006905	NP_008836	P11464	PSG1_HUMAN			5	1355	-		Prostate(69;0.00682)	406			Ig-like C2-type 3.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.1217C>A	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	11.50	1.656965	0.29425	.	.	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	1.59	0.281	0.15687	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50240	0.1604	H	0.94385	3.53	0.09310	N	1	B;D;D;D;P;P;D	0.63046	0.243;0.972;0.973;0.977;0.854;0.549;0.992	B;P;D;D;P;P;D	0.70487	0.287;0.891;0.939;0.934;0.642;0.758;0.969	T	0.33369	-0.9871	9	0.87932	D	0	.	5.4024	0.16303	0.0:0.362:0.638:0.0	.	406;313;406;313;406;313;278	P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;B4DTG5	.;.;PSG1_HUMAN;.;.;.;.	Y	406;313;406;406	ENSP00000413041:S406Y;ENSP00000385386:S313Y;ENSP00000308970:S406Y;ENSP00000244296:S406Y	ENSP00000244296:S406Y	S	-	2	0	PSG1	48064119	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.321000	0.08018	-0.044000	0.13491	0.184000	0.17185	TCC		PASS	0.473	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			74	367	74	367	---	---	---	---
PSG5	5673	broad.mit.edu	37	19	43674284	43674284	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:43674284G>A	ENST00000366175.3	-	5	1101	c.971C>T	c.(970-972)tCa>tTa	p.S324L	PSG5_ENST00000407568.1_Missense_Mutation_p.S146L|PSG5_ENST00000407356.1_Missense_Mutation_p.S324L|PSG5_ENST00000342951.6_Missense_Mutation_p.S324L|PSG5_ENST00000599812.1_Missense_Mutation_p.S417L			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	324					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.S324L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TCCTATTCCTGAAGGAGCTGT	0.428																																						uc002ovu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(970-972)TCA>TTA		pregnancy specific beta-1-glycoprotein 5							127.0	124.0	125.0					19																	43674284		2202	4295	6497	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43674284G>A		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.971C>T	19.37:g.43674284G>A	ENSP00000382334:p.Ser324Leu					PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.S199L|PSG5_uc002ovx.2_Missense_Mutation_p.S324L|PSG5_uc002ovv.2_Missense_Mutation_p.S417L|PSG5_uc002ovw.2_Missense_Mutation_p.S146L	p.S324L	NM_002781	NP_002772	Q15238	PSG5_HUMAN			5	1102	-		Prostate(69;0.00899)	324					Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.971C>T	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	g	3.816	-0.038674	0.07497	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951	T;T;T;T	0.01295	5.23;5.23;5.04;5.23	1.27	1.27	0.21489	.	.	.	.	.	T	0.01061	0.0035	N	0.16368	0.405	0.09310	N	0.999998	B;B	0.24721	0.001;0.11	B;B	0.17098	0.0;0.017	T	0.47573	-0.9107	9	0.41790	T	0.15	.	5.97	0.19346	0.0:0.0:1.0:0.0	.	146;324	E9PC55;Q15238	.;PSG5_HUMAN	L	324;324;146;324	ENSP00000382334:S324L;ENSP00000386008:S324L;ENSP00000386053:S146L;ENSP00000344413:S324L	ENSP00000344413:S324L	S	-	2	0	PSG5	48366124	0.004000	0.15560	0.001000	0.08648	0.004000	0.04260	0.299000	0.19138	1.041000	0.40125	0.194000	0.17425	TCA		PASS	0.428	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		29	144	29	144	---	---	---	---
ZNF221	7638	broad.mit.edu	37	19	44471455	44471455	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:44471455G>A	ENST00000251269.5	+	6	2129	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K	ZNF221_ENST00000592350.1_Missense_Mutation_p.E601K|ZNF221_ENST00000587682.1_Missense_Mutation_p.E601K	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	601					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.E601K(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GATCTACTCAGAATTCACAGC	0.443																																						uc002oxx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1801-1803)GAA>AAA		zinc finger protein 221							77.0	78.0	78.0					19																	44471455		2203	4300	6503	SO:0001583	missense	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44471455G>A	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1801G>A	19.37:g.44471455G>A	ENSP00000251269:p.Glu601Lys					ZNF221_uc010ejb.1_Missense_Mutation_p.E601K|ZNF221_uc010xws.1_Missense_Mutation_p.E601K	p.E601K	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN			6	2129	+		Prostate(69;0.0352)	601					B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	c.1801G>A	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	g	11.15	1.555370	0.27739	.	.	ENSG00000159905	ENST00000251269	T	0.05786	3.39	2.57	1.46	0.22682	.	.	.	.	.	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	P	0.39831	0.69	B	0.36666	0.23	T	0.41305	-0.9516	9	0.45353	T	0.12	.	4.2002	0.10462	0.132:0.0:0.6368:0.2312	.	601	Q9UK13	ZN221_HUMAN	K	601	ENSP00000251269:E601K	ENSP00000251269:E601K	E	+	1	0	ZNF221	49163295	.	.	0.000000	0.03702	0.248000	0.25809	.	.	0.359000	0.24239	0.462000	0.41574	GAA		PASS	0.443	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			42	139	42	139	---	---	---	---
ZNF230	7773	broad.mit.edu	37	19	44514653	44514653	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:44514653C>G	ENST00000429154.2	+	5	690	c.462C>G	c.(460-462)atC>atG	p.I154M		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	154	KRNB.				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.I154M(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				ATGTTGCCATCTTTGATCCTC	0.448																																					GBM(175;914 2069 22996 47111 52600)	uc002oyb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(460-462)ATC>ATG		zinc finger protein 230							147.0	141.0	143.0					19																	44514653		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44514653C>G	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.462C>G	19.37:g.44514653C>G	ENSP00000409318:p.Ile154Met						p.I154M	NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN			5	713	+		Prostate(69;0.0352)	154			KRNB.		O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.462C>G	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510019	0.27036	.	.	ENSG00000159882	ENST00000429154	T	0.15256	2.44	2.45	2.45	0.29901	.	.	.	.	.	T	0.13927	0.0337	L	0.41824	1.3	0.20196	N	0.999925	P	0.40332	0.713	B	0.39531	0.302	T	0.12630	-1.0540	9	0.32370	T	0.25	.	7.8907	0.29675	0.2469:0.7531:0.0:0.0	.	154	Q9UIE0	ZN230_HUMAN	M	154	ENSP00000409318:I154M	ENSP00000409318:I154M	I	+	3	3	ZNF230	49206493	0.000000	0.05858	0.001000	0.08648	0.208000	0.24298	-0.439000	0.06897	1.342000	0.45619	0.205000	0.17691	ATC		PASS	0.448	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			36	251	36	251	---	---	---	---
ZNF234	10780	broad.mit.edu	37	19	44661248	44661248	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:44661248A>G	ENST00000426739.2	+	6	1337	c.1079A>G	c.(1078-1080)cAg>cGg	p.Q360R	ZNF234_ENST00000592437.1_Missense_Mutation_p.Q360R	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q360R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCACAATTTCAGGCCCATCGG	0.443																																						uc002oym.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1078-1080)CAG>CGG		zinc finger protein 234							58.0	62.0	61.0					19																	44661248		2136	4273	6409	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44661248A>G	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1079A>G	19.37:g.44661248A>G	ENSP00000400878:p.Gln360Arg					ZNF234_uc002oyl.3_Missense_Mutation_p.Q360R	p.Q360R	NM_006630	NP_006621	Q14588	ZN234_HUMAN			6	1386	+		Prostate(69;0.0435)	360			C2H2-type 8.		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.1079A>G	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	A	4.181	0.032106	0.08101	.	.	ENSG00000167380	ENST00000426739	T	0.11930	2.73	4.12	-0.786	0.10946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04407	0.0121	N	0.04148	-0.265	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.41305	-0.9516	9	0.25751	T	0.34	.	0.0834	0.00033	0.2898:0.2494:0.1907:0.2701	.	360	Q14588	ZN234_HUMAN	R	360	ENSP00000400878:Q360R	ENSP00000400878:Q360R	Q	+	2	0	ZNF226	49353088	0.000000	0.05858	0.001000	0.08648	0.750000	0.42670	-3.103000	0.00603	-0.033000	0.13736	0.482000	0.46254	CAG		PASS	0.443	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			3	82	3	82	---	---	---	---
ZNF226	7769	broad.mit.edu	37	19	44680253	44680253	+	Missense_Mutation	SNP	C	C	T	rs371095140		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:44680253C>T	ENST00000590089.1	+	7	1205	c.838C>T	c.(838-840)Ctt>Ttt	p.L280F	ZNF226_ENST00000337433.5_Missense_Mutation_p.L280F|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.L280F			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	280					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.L280F(1)					Prostate(69;0.0352)|all_neural(266;0.202)				AGAGAAGTCTCTTACATGTGT	0.428																																					Pancreas(115;581 1665 13228 19278 50070)	uc002oyp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(838-840)CTT>TTT		zinc finger protein 226 isoform a							55.0	55.0	55.0					19																	44680253		2053	4222	6275	SO:0001583	missense	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44680253C>T	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.838C>T	19.37:g.44680253C>T	ENSP00000465121:p.Leu280Phe					ZNF226_uc002oyq.2_Missense_Mutation_p.L163F|ZNF226_uc002oyr.2_Missense_Mutation_p.L163F|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.L280F|ZNF226_uc002oyt.2_Missense_Mutation_p.L280F	p.L280F	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN			6	982	+		Prostate(69;0.0352)|all_neural(266;0.202)	280			C2H2-type 2; degenerate.		Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	c.838C>T	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	C	4.044	0.005832	0.07866	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.58940	0.3;0.3	4.28	0.893	0.19236	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.390610	0.05448	N	0.548916	T	0.25606	0.0623	N	0.00683	-1.26	0.09310	N	1	B	0.22983	0.078	B	0.21546	0.035	T	0.17684	-1.0361	10	0.38643	T	0.18	.	5.9797	0.19401	0.0:0.5238:0.0:0.4762	.	280	Q9NYT6	ZN226_HUMAN	F	280	ENSP00000336719:L280F;ENSP00000393265:L280F	ENSP00000336719:L280F	L	+	1	0	ZNF226	49372093	0.000000	0.05858	0.001000	0.08648	0.886000	0.51366	0.381000	0.20619	0.533000	0.28675	0.655000	0.94253	CTT		PASS	0.428	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			12	92	12	92	---	---	---	---
ZNF227	7770	broad.mit.edu	37	19	44738912	44738912	+	Nonsense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:44738912C>G	ENST00000313040.7	+	6	534	c.329C>G	c.(328-330)tCa>tGa	p.S110*	ZNF227_ENST00000391961.2_Nonsense_Mutation_p.S59*|ZNF227_ENST00000589707.1_3'UTR|ZNF227_ENST00000586228.1_3'UTR|ZNF227_ENST00000589005.1_Nonsense_Mutation_p.S59*	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	110					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.S110*(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				AAATACCTTTCAAATCAAGAG	0.383																																						uc002oyu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(328-330)TCA>TGA		zinc finger protein 227							61.0	64.0	63.0					19																	44738912		2203	4300	6503	SO:0001587	stop_gained	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44738912C>G	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.329C>G	19.37:g.44738912C>G	ENSP00000321049:p.Ser110*					ZNF227_uc010xwu.1_Nonsense_Mutation_p.S59*|ZNF227_uc002oyv.2_Nonsense_Mutation_p.S110*|ZNF227_uc010xwv.1_Nonsense_Mutation_p.S59*|ZNF227_uc010xww.1_Nonsense_Mutation_p.S31*|ZNF227_uc002oyw.2_Nonsense_Mutation_p.S82*|ZNF227_uc010ejh.2_Nonsense_Mutation_p.S103*|ZNF235_uc002oyx.1_RNA	p.S110*	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN			6	534	+		Prostate(69;0.0435)	110					B3KRU7|B7Z5P9	Nonsense_Mutation	SNP	ENST00000313040.7	37	c.329C>G	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071861	0.76301	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980	.	.	.	3.71	1.53	0.23141	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	2.4623	0.04544	0.233:0.4838:0.0:0.2832	.	.	.	.	X	110;67;59;89	.	ENSP00000321049:S110X	S	+	2	0	ZNF227	49430752	0.000000	0.05858	0.005000	0.12908	0.782000	0.44232	0.426000	0.21363	0.483000	0.27608	0.563000	0.77884	TCA		PASS	0.383	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		38	124	38	124	---	---	---	---
ZNF285	26974	broad.mit.edu	37	19	44891432	44891432	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:44891432G>C	ENST00000330997.4	-	4	1039	c.975C>G	c.(973-975)ttC>ttG	p.F325L	ZNF285_ENST00000544719.2_Missense_Mutation_p.F325L|ZNF285_ENST00000591679.1_Missense_Mutation_p.F332L|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	325					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.F325L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AGCTGCGCCTGAAGCCCTTGC	0.493																																						uc002ozd.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(973-975)TTC>TTG		zinc finger protein 285							91.0	92.0	92.0					19																	44891432		2203	4300	6503	SO:0001583	missense	26974				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44891432G>C	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.975C>G	19.37:g.44891432G>C	ENSP00000333595:p.Phe325Leu					ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.F332L	p.F325L	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN			4	1062	-			325			C2H2-type 3.		Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.975C>G	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852955	0.71719	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.28069	1.63	3.44	-6.64	0.01801	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32133	0.0819	M	0.91406	3.205	0.09310	N	1	P;B	0.42248	0.774;0.383	B;B	0.33121	0.158;0.118	T	0.23476	-1.0187	9	0.87932	D	0	.	7.5391	0.27727	0.5703:0.1176:0.3121:0.0	.	349;325	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	L	348;325	ENSP00000333595:F325L	ENSP00000333595:F325L	F	-	3	2	ZNF285	49583272	0.001000	0.12720	0.004000	0.12327	0.695000	0.40330	-0.167000	0.09940	-1.363000	0.02164	-0.479000	0.04858	TTC		PASS	0.493	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		34	249	34	249	---	---	---	---
CEACAM20	125931	broad.mit.edu	37	19	45024764	45024764	+	RNA	SNP	G	G	A	rs201619802		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:45024764G>A	ENST00000454753.1	-	0	1052							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)		p.V258V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TTGAAGGCACGACTTGAGGCA	0.522													-|||	1	0.000199681	0.0	0.0	5008	,	,		21633	0.0		0.001	False		,,,				2504	0.0					uc010ejn.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)	2						c.(772-774)GTC>GTT		carcinoembryonic antigen-related cell adhesion			,,,	0,4150		0,0,2075	141.0	131.0	135.0		774,774,774,774	-5.4	0.0	19		135	4,8434		0,4,4215	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CEACAM20	NM_001102597.1,NM_001102598.1,NM_001102599.1,NM_001102600.1	,,,	0,4,6290	AA,AG,GG		0.0474,0.0,0.0318	,,,	258/597,258/492,258/504,258/585	45024764	4,12584	2075	4219	6294			125931					integral to membrane		g.chr19:45024764G>A	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45024764G>A						CEACAM20_uc010ejo.1_Silent_p.V258V|CEACAM20_uc010ejp.1_Silent_p.V258V|CEACAM20_uc010ejq.1_Silent_p.V258V	p.V258V	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN			5	790	-		Prostate(69;0.0352)	258			Extracellular (Potential).|Ig-like C2-type 3.			Silent	SNP	ENST00000454753.1	37	c.774C>T																																																																																					PASS	0.522	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		62	96	62	96	---	---	---	---
ERCC2	2068	broad.mit.edu	37	19	45856557	45856557	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:45856557G>C	ENST00000391945.4	-	18	1778	c.1701C>G	c.(1699-1701)ctC>ctG	p.L567L	ERCC2_ENST00000391944.3_Silent_p.L489L	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	567	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.L567L(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TCTCAATAAAGAGCAGCTTGT	0.607			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - coding silent(1)		lung(1)	lung(2)|pancreas(1)	3						c.(1699-1701)CTC>CTG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							95.0	78.0	84.0					19																	45856557		2203	4300	6503	SO:0001819	synonymous_variant	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45856557G>C		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1701C>G	19.37:g.45856557G>C						ERCC2_uc002pbh.2_Silent_p.L130L|ERCC2_uc002pbi.2_Silent_p.L260L|ERCC2_uc010ejz.2_Silent_p.L489L|ERCC2_uc002pbk.2_Silent_p.L543L	p.L567L	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	18	1748	-		Ovarian(192;0.0728)|all_neural(266;0.112)	567			Mediates interaction with MMS19.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Silent	SNP	ENST00000391945.4	37	c.1701C>G	CCDS33049.1																																																																																				PASS	0.607	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		5	52	5	52	---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46355782	46355782	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:46355782C>G	ENST00000245934.7	-	4	427	c.183G>C	c.(181-183)ctG>ctC	p.L61L		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	61	Interaction with HSF1.				cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.L61L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TGTTGATGATCAGCTCCTGGA	0.527																																						uc002pdn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(181-183)CTG>CTC		symplekin							140.0	130.0	133.0					19																	46355782		1942	4140	6082	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46355782C>G	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.183G>C	19.37:g.46355782C>G						SYMPK_uc002pdo.1_Silent_p.L61L|SYMPK_uc002pdp.1_Silent_p.L61L|SYMPK_uc002pdq.1_Silent_p.L61L	p.L61L	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	4	428	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	61			Interaction with HSF1.		O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.183G>C	CCDS12676.2																																																																																				PASS	0.527	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		3	110	3	110	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47423195	47423195	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:47423195G>A	ENST00000404338.3	+	1	1263	c.1263G>A	c.(1261-1263)gaG>gaA	p.E421E		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	421	FF 2.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.E421E(2)									CCCACTTAGAGAAGCTGAGGA	0.483																																						uc010ekv.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(1261-1263)GAG>GAA		glucocorticoid receptor DNA binding factor 1							114.0	109.0	111.0					19																	47423195		1909	4108	6017	SO:0001819	synonymous_variant	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47423195G>A	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1263G>A	19.37:g.47423195G>A							p.E421E	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	1263	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	421			FF 2.		A7E2A4|Q14452|Q9C0E1	Silent	SNP	ENST00000404338.3	37	c.1263G>A	CCDS46127.1																																																																																				PASS	0.483	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		48	112	48	112	---	---	---	---
KPTN	11133	broad.mit.edu	37	19	47986776	47986776	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:47986776C>T	ENST00000338134.3	-	2	399	c.292G>A	c.(292-294)Ggg>Agg	p.G98R	KPTN_ENST00000536339.1_5'UTR|KPTN_ENST00000595484.1_5'UTR|NAPA-AS1_ENST00000594367.1_RNA|NAPA-AS1_ENST00000593284.1_RNA	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	98					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.G98R(1)		breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		AACGTGATCCCCACAACCAGA	0.582											OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002pgy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(292-294)GGG>AGG		kaptin (actin binding protein)							32.0	37.0	35.0					19																	47986776		1971	4146	6117	SO:0001583	missense	11133				actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding	g.chr19:47986776C>T	AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"""kaptin (actin-binding protein)"""			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.292G>A	19.37:g.47986776C>T	ENSP00000337850:p.Gly98Arg		OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	951	KPTN_uc010xys.1_RNA|uc002pgz.1_5'Flank	p.G98R	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)	2	396	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	98					B3KN86|B4DQ76|Q96GT1	Missense_Mutation	SNP	ENST00000338134.3	37	c.292G>A	CCDS42583.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954033	0.92660	.	.	ENSG00000118162	ENST00000338134	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.80798	0.4692	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84405	0.0562	9	0.87932	D	0	-11.9513	16.7003	0.85348	0.0:1.0:0.0:0.0	.	98	Q9Y664	KPTN_HUMAN	R	98	.	ENSP00000337850:G98R	G	-	1	0	KPTN	52678588	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.064000	0.76721	2.320000	0.78422	0.486000	0.48141	GGG		PASS	0.582	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2			3	5	3	5	---	---	---	---
CCDC114	93233	broad.mit.edu	37	19	48801295	48801295	+	Silent	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:48801295A>G	ENST00000315396.7	-	12	2035	c.1353T>C	c.(1351-1353)ctT>ctC	p.L451L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	451					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)		p.L244L(1)|p.L451L(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TCTTCTTCGGAAGGTCCTCCA	0.682																																						uc002pir.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1351-1353)CTT>CTC		coiled-coil domain containing 114 isoform 2							44.0	45.0	45.0					19																	48801295		2203	4300	6503	SO:0001819	synonymous_variant	93233							g.chr19:48801295A>G	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1353T>C	19.37:g.48801295A>G						CCDC114_uc002piq.2_Silent_p.L260L|CCDC114_uc002pio.2_Silent_p.L488L|CCDC114_uc002pis.1_Silent_p.L131L	p.L451L	NM_144577	NP_653178	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	12	2036	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	451					Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	c.1353T>C	CCDS12714.2																																																																																				PASS	0.682	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		12	56	12	56	---	---	---	---
SPHK2	56848	broad.mit.edu	37	19	49131269	49131269	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:49131269G>C	ENST00000245222.4	+	5	1065	c.699G>C	c.(697-699)ctG>ctC	p.L233L	SPHK2_ENST00000601712.1_Silent_p.L197L|SPHK2_ENST00000599748.1_Silent_p.L197L|SPHK2_ENST00000598088.1_Silent_p.L233L|SPHK2_ENST00000600537.1_Silent_p.L174L|SPHK2_ENST00000340932.3_Silent_p.L197L|SPHK2_ENST00000599029.1_Silent_p.L197L|SPHK2_ENST00000443164.1_Silent_p.L295L	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	233	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)	p.L233L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TCCAGGGGCTGAGCCTGAGTG	0.662																																						uc002pjr.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(697-699)CTG>CTC		sphingosine kinase 2							71.0	77.0	75.0					19																	49131269		2203	4300	6503	SO:0001819	synonymous_variant	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49131269G>C	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.699G>C	19.37:g.49131269G>C						SPHK2_uc010xzt.1_Silent_p.L174L|SPHK2_uc002pjs.2_Silent_p.L233L|SPHK2_uc002pjt.2_Silent_p.L27L|SPHK2_uc002pju.2_Silent_p.L197L|SPHK2_uc002pjv.2_Silent_p.L197L|SPHK2_uc002pjw.2_Silent_p.L295L|SPHK2_uc010xzu.1_Silent_p.L197L	p.L233L	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	5	1065	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	233			DAGKc.		A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	c.699G>C	CCDS12727.1																																																																																				PASS	0.662	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			6	100	6	100	---	---	---	---
MYH14	79784	broad.mit.edu	37	19	50796543	50796543	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:50796543G>C	ENST00000596571.1	+	35	5187	c.5187G>C	c.(5185-5187)gaG>gaC	p.E1729D	MYH14_ENST00000440075.2_Missense_Mutation_p.E1770D|MYH14_ENST00000262269.8_Missense_Mutation_p.E1770D|MYH14_ENST00000598205.1_Missense_Mutation_p.E1737D|MYH14_ENST00000601313.1_Missense_Mutation_p.E1770D|MYH14_ENST00000376970.2_Missense_Mutation_p.E1762D|MYH14_ENST00000425460.1_Missense_Mutation_p.E1737D			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1729					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E1770D(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ACCGGGATGAGATGGCAGATG	0.617																																						uc002prr.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(5185-5187)GAG>GAC		myosin, heavy chain 14 isoform 2							32.0	36.0	34.0					19																	50796543		2087	4219	6306	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50796543G>C	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5187G>C	19.37:g.50796543G>C	ENSP00000472819:p.Glu1729Asp					MYH14_uc010enu.1_Missense_Mutation_p.E1770D|MYH14_uc002prq.1_Missense_Mutation_p.E1737D|MYH14_uc010ycb.1_Missense_Mutation_p.E80D|MYH14_uc002prs.1_Missense_Mutation_p.E80D	p.E1729D	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	36	5234	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1729			Potential.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.5187G>C	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043812	0.36085	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	3.51	1.32	0.21799	Myosin tail (1);	.	.	.	.	T	0.78432	0.4282	L	0.33710	1.025	0.40791	D	0.983253	D;B;B	0.89917	1.0;0.175;0.282	D;B;B	0.91635	0.999;0.308;0.398	T	0.73401	-0.3994	9	0.06625	T	0.88	.	7.9108	0.29789	0.2181:0.0:0.7819:0.0	.	1770;1729;1737	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	D	1770;1762;1737;1513;1770	ENSP00000406273:E1770D;ENSP00000366169:E1762D;ENSP00000407879:E1737D;ENSP00000262269:E1770D	ENSP00000262269:E1770D	E	+	3	2	MYH14	55488355	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	1.998000	0.40796	0.466000	0.27193	0.407000	0.27541	GAG		PASS	0.617	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		3	13	3	13	---	---	---	---
C19orf48	84798	broad.mit.edu	37	19	51301373	51301373	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:51301373C>T	ENST00000598463.1	-	5	1431	c.333G>A	c.(331-333)ctG>ctA	p.L111L	C19orf48_ENST00000596655.1_Silent_p.L111L|SNORD88A_ENST00000408314.1_RNA|SNORD88B_ENST00000408454.1_RNA|C19orf48_ENST00000595794.1_5'Flank|C19orf48_ENST00000345523.4_Silent_p.L111L|C19orf48_ENST00000391812.1_Silent_p.L111L			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	111								p.L111L(1)		endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GCAGCTCCCCCAGGATTCTGG	0.627																																						uc002ptf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(331-333)CTG>CTA		multidrug resistance-related protein							86.0	89.0	88.0					19																	51301373		2203	4300	6503	SO:0001819	synonymous_variant	84798							g.chr19:51301373C>T	BC037227	CCDS12803.1	19q13.33	2012-10-26			ENSG00000167747	ENSG00000167747			29667	protein-coding gene	gene with protein product	"""multidrug resistance-related protein"""					12452007	Standard	NM_001290154		Approved	MGC13170	uc002ptg.3	Q6RUI8		ENST00000598463.1:c.333G>A	19.37:g.51301373C>T						C19orf48_uc002pte.2_RNA|C19orf48_uc002ptg.2_Silent_p.L111L	p.L111L	NM_199249	NP_954857	Q6RUI8	CS048_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)	5	1255	-		all_neural(266;0.057)	111						Silent	SNP	ENST00000598463.1	37	c.333G>A	CCDS12803.1																																																																																				PASS	0.627	C19orf48-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464107.1	NM_032712		57	224	57	224	---	---	---	---
ZNF577	84765	broad.mit.edu	37	19	52376400	52376400	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:52376400C>T	ENST00000301399.5	-	7	1208	c.843G>A	c.(841-843)caG>caA	p.Q281Q	ZNF577_ENST00000420592.1_Silent_p.Q222Q|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Silent_p.Q222Q	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	281					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.Q274Q(1)		breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GGTATGCCTTCTGAGAAAAGG	0.468																																						uc010yde.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(841-843)CAG>CAA		zinc finger protein 577 isoform a							75.0	70.0	72.0					19																	52376400		2203	4300	6503	SO:0001819	synonymous_variant	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52376400C>T	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.843G>A	19.37:g.52376400C>T						ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Silent_p.Q222Q|ZNF577_uc002pxv.2_Silent_p.Q274Q|ZNF577_uc002pxw.2_Silent_p.Q215Q	p.Q281Q	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	7	1234	-		all_neural(266;0.0602)	281			C2H2-type 5.		A8K0B4|A8K6Z7|C9JFB9	Silent	SNP	ENST00000301399.5	37	c.843G>A	CCDS12842.2																																																																																				PASS	0.468	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		20	95	20	95	---	---	---	---
ZNF83	55769	broad.mit.edu	37	19	53100135	53100135	+	Intron	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:53100135T>A	ENST00000600714.1	-	6	565				ZNF137P_ENST00000597158.1_RNA|CTD-3099C6.11_ENST00000596451.1_RNA|ZNF83_ENST00000601257.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83						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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		AATCAAACCTTGCACAACATC	0.383																																						uc002pzt.2																			0					0								Homo sapiens zinc finger protein 137, mRNA (cDNA clone IMAGE:40016639).							53.0	55.0	55.0					19																	53100135		2196	4298	6494	SO:0001627	intron_variant	7696							g.chr19:53100135T>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000600714.1:c.283-2578A>T	19.37:g.53100135T>A								NR_023311					GBM - Glioblastoma multiforme(134;0.0212)|OV - Ovarian serous cystadenocarcinoma(262;0.0221)	1		+								A8MT75|Q3ZCX0|Q6PI08	RNA	SNP	ENST00000600714.1	37	c.199T>A																																																																																					PASS	0.383	ZNF83-017	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463754.1	NM_018300		7	37	7	37	---	---	---	---
ZNF765	91661	broad.mit.edu	37	19	53911436	53911436	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:53911436A>G	ENST00000396408.3	+	4	745	c.628A>G	c.(628-630)Atg>Gtg	p.M210V	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	210					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.M210V(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GGAAGTACATATGAGGGAAAA	0.348																																						uc010ydx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(628-630)ATG>GTG		zinc finger protein 765							66.0	67.0	67.0					19																	53911436		2179	4283	6462	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53911436A>G	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.628A>G	19.37:g.53911436A>G	ENSP00000379689:p.Met210Val					ZNF765_uc002qbm.2_Missense_Mutation_p.M210V|ZNF765_uc002qbn.2_Intron	p.M210V	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	6	955	+			210					A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.628A>G	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	A	5.581	0.291927	0.10567	.	.	ENSG00000196417	ENST00000396408	T	0.14266	2.52	0.439	0.439	0.16567	.	.	.	.	.	T	0.10680	0.0261	L	0.47190	1.495	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.34378	-0.9831	8	.	.	.	.	4.8486	0.13526	1.0:0.0:0.0:0.0	.	210	Q7L2R6	ZN765_HUMAN	V	210	ENSP00000379689:M210V	.	M	+	1	0	ZNF765	58603248	0.001000	0.12720	0.024000	0.17045	0.099000	0.18886	0.954000	0.29175	0.376000	0.24707	0.147000	0.16070	ATG		PASS	0.348	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		5	97	5	97	---	---	---	---
ZNF765	91661	broad.mit.edu	37	19	53911925	53911925	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:53911925C>A	ENST00000396408.3	+	4	1234	c.1117C>A	c.(1117-1119)Cat>Aat	p.H373N	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	373					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.H373N(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TTTTACATGCCATCATAGAGT	0.413																																						uc010ydx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1117-1119)CAT>AAT		zinc finger protein 765							114.0	116.0	116.0					19																	53911925		2203	4300	6503	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53911925C>A	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.1117C>A	19.37:g.53911925C>A	ENSP00000379689:p.His373Asn					ZNF765_uc002qbm.2_Missense_Mutation_p.H373N|ZNF765_uc002qbn.2_Intron	p.H373N	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	6	1444	+			373			C2H2-type 6.		A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.1117C>A	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674498	0.47781	.	.	ENSG00000196417	ENST00000396408	D	0.86865	-2.18	1.22	1.22	0.21188	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94857	0.8338	H	0.97023	3.925	0.28211	N	0.926922	D	0.89917	1.0	D	0.81914	0.995	D	0.87229	0.2259	8	.	.	.	.	9.2771	0.37705	0.0:1.0:0.0:0.0	.	373	Q7L2R6	ZN765_HUMAN	N	373	ENSP00000379689:H373N	.	H	+	1	0	ZNF765	58603737	0.998000	0.40836	0.003000	0.11579	0.034000	0.12701	4.379000	0.59575	0.600000	0.29862	0.174000	0.16983	CAT		PASS	0.413	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		48	191	48	191	---	---	---	---
MIR522	574495	broad.mit.edu	37	19	54255684	54255684	+	RNA	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:54255684C>T	ENST00000385071.1	+	0	87				RNU6-751P_ENST00000516382.1_RNA|MIR519A1_ENST00000385257.1_RNA|MIR527_ENST00000385244.1_RNA	NR_030217.1				microRNA 522																		GAAGCGCTTTCTGTTGTCTGA	0.418																																						hsa-mir-519a-1|MI0003178																			0					0															154.0	147.0	149.0					19																	54255684		1568	3582	5150			574496							g.chr19:54255684C>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207806	ENSG00000207806		"""ncRNAs / Micro RNAs"""	32127	non-coding RNA	RNA, micro				MIRN522			Standard	NR_030217		Approved	hsa-mir-522	uc021vat.1				19.37:g.54255684C>T						MIR527_hsa-mir-527|MI0003179_5'Flank										+									RNA	SNP	ENST00000385071.1	37	c.34C>T																																																																																					PASS	0.418	MIR522-201	KNOWN	basic	miRNA	miRNA		NR_030217		34	157	34	157	---	---	---	---
LILRA6	79168	broad.mit.edu	37	19	54744149	54744149	+	Splice_Site	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:54744149C>A	ENST00000396365.2	-	6	1298		c.e6+1		LILRA6_ENST00000245621.5_Splice_Site|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Splice_Site|LILRA6_ENST00000391735.3_Splice_Site|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6						immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.?(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGCGCCCTCACCTGAGACCAT	0.652																																						uc002qeu.1																			1	Unknown(1)		lung(1)	skin(2)	2						c.e6+1		leukocyte immunoglobulin-like receptor,							59.0	89.0	79.0					19																	54744149		2197	4300	6497	SO:0001630	splice_region_variant	79168					integral to membrane	receptor activity	g.chr19:54744149C>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1258+1G>T	19.37:g.54744149C>A						LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Splice_Site_p.G420_splice|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Splice_Site_p.G420_splice|LILRA6_uc002qem.1_Splice_Site|LILRB3_uc002qen.1_Splice_Site|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Splice_Site_p.G420_splice|LILRA6_uc010yeq.1_Splice_Site_p.G420_splice|LILRA6_uc002qet.3_Splice_Site|LILRA6_uc002qev.1_Splice_Site_p.A281_splice	p.G420_splice	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1382	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Splice_Site	SNP	ENST00000396365.2	37	c.1258_splice	CCDS42610.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.29|10.29	1.310151|1.310151	0.23821|0.23821	.|.	.|.	ENSG00000244482|ENSG00000244482	ENST00000419410;ENST00000396365;ENST00000245621|ENST00000421123	.|.	.|.	.|.	2.7|2.7	2.7|2.7	0.31948|0.31948	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63379	.|0.2506	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65899	.|-0.6056	.|5	.|0.66056	.|D	.|0.02	.|.	8.9143|8.9143	0.35572|0.35572	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|V	-1|420	.|.	.|ENSP00000395996:G420V	.|G	-|-	.|2	.|0	LILRA6|LILRA6	59435961|59435961	0.996000|0.996000	0.38824|0.38824	0.936000|0.936000	0.37596|0.37596	0.021000|0.021000	0.10359|0.10359	1.668000|1.668000	0.37481|0.37481	1.535000|1.535000	0.49220|0.49220	0.174000|0.174000	0.16983|0.16983	.|GGT		PASS	0.652	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318	Intron	3	81	3	81	---	---	---	---
FCAR	2204	broad.mit.edu	37	19	55399578	55399578	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:55399578G>A	ENST00000355524.3	+	4	576	c.566G>A	c.(565-567)gGg>gAg	p.G189E	CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000469767.1_Missense_Mutation_p.G189E|FCAR_ENST00000391725.3_Missense_Mutation_p.G189E|FCAR_ENST00000353758.4_Missense_Mutation_p.G80E|FCAR_ENST00000391724.3_Missense_Mutation_p.G177E|FCAR_ENST00000391723.3_Missense_Mutation_p.G177E|FCAR_ENST00000359272.4_Missense_Mutation_p.G177E|FCAR_ENST00000391726.3_Intron	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	189	Ig-like C2-type 2.				immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.G189E(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		AATGTCTCAGGGATCTACAGG	0.557																																						uc002qhr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(565-567)GGG>GAG		Fc alpha receptor isoform a precursor							76.0	65.0	69.0					19																	55399578		2203	4300	6503	SO:0001583	missense	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55399578G>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.566G>A	19.37:g.55399578G>A	ENSP00000347714:p.Gly189Glu					FCAR_uc002qhq.2_Missense_Mutation_p.G189E|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Missense_Mutation_p.G162E|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Missense_Mutation_p.G189E|FCAR_uc002qhw.1_Missense_Mutation_p.G177E|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Missense_Mutation_p.G177E|FCAR_uc002qhz.1_Missense_Mutation_p.G177E|FCAR_uc002qia.1_Missense_Mutation_p.G80E	p.G189E	NM_002000	NP_001991	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	4	763	+			189			Ig-like C2-type 2.|Extracellular (Potential).		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.566G>A	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507271	0.44558	.	.	ENSG00000186431	ENST00000433231;ENST00000355524;ENST00000391725;ENST00000353758;ENST00000359272;ENST00000391723;ENST00000391724	T;T;T;T;T;T	0.26067	4.76;1.76;4.76;4.76;4.76;1.76	2.86	2.86	0.33363	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.35772	N	0.002989	T	0.49474	0.1559	M	0.82433	2.59	0.09310	N	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.28427	-1.0044	10	0.87932	D	0	.	9.3833	0.38327	0.0:0.0:1.0:0.0	.	80;177;177;177;189;189;189	Q92592;Q92588;Q92593;Q9UEK0;Q53X39;P24071;P24071-4	.;.;.;.;.;FCAR_HUMAN;.	E	189;189;189;80;177;177;177	ENSP00000347714:G189E;ENSP00000375605:G189E;ENSP00000338058:G80E;ENSP00000352218:G177E;ENSP00000375603:G177E;ENSP00000375604:G177E	ENSP00000338058:G80E	G	+	2	0	FCAR	60091390	0.692000	0.27719	0.110000	0.21437	0.014000	0.08584	2.857000	0.48349	1.890000	0.54733	0.563000	0.77884	GGG		PASS	0.557	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		10	45	10	45	---	---	---	---
NCR1	9437	broad.mit.edu	37	19	55424101	55424101	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:55424101G>A	ENST00000291890.4	+	7	815	c.777G>A	c.(775-777)atG>atA	p.M259I	NCR1_ENST00000594765.1_Missense_Mutation_p.M258I|NCR1_ENST00000447255.1_Missense_Mutation_p.M258I|NCR1_ENST00000598576.1_Missense_Mutation_p.M246I|NCR1_ENST00000350790.5_Missense_Mutation_p.M164I|NCR1_ENST00000357397.5_Missense_Mutation_p.M152I|NCR1_ENST00000338835.5_Missense_Mutation_p.M242I	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	259					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)	p.M259I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TCCTTCGGATGGGCCTGGCCT	0.552																																						uc002qib.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(775-777)ATG>ATA		natural cytotoxicity triggering receptor 1							133.0	91.0	105.0					19																	55424101		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55424101G>A	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.777G>A	19.37:g.55424101G>A	ENSP00000291890:p.Met259Ile					NCR1_uc002qic.2_Missense_Mutation_p.M258I|NCR1_uc002qie.2_Missense_Mutation_p.M242I|NCR1_uc002qid.2_Missense_Mutation_p.M164I|NCR1_uc002qif.2_Missense_Mutation_p.M147I|NCR1_uc010esj.2_Missense_Mutation_p.M152I	p.M259I	NM_004829	NP_004820	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	7	815	+			259			Helical; (Potential).		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.777G>A	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	G	2.963	-0.214191	0.06101	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	T;T;T;T;T	0.00512	7.15;7.17;7.19;7.15;6.89	3.27	-6.53	0.01866	.	.	.	.	.	T	0.00271	0.0008	N	0.17872	0.535	0.09310	N	1	B;B;B;B;B;B	0.11235	0.004;0.001;0.001;0.004;0.002;0.001	B;B;B;B;B;B	0.08055	0.003;0.001;0.001;0.002;0.003;0.001	T	0.45396	-0.9264	9	0.02654	T	1	.	9.1119	0.36732	0.0:0.47:0.3664:0.1637	.	152;147;242;164;258;259	O76036-5;B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;.;NCTR1_HUMAN	I	259;258;242;164;152	ENSP00000291890:M259I;ENSP00000404434:M258I;ENSP00000339515:M242I;ENSP00000344358:M164I;ENSP00000349972:M152I	ENSP00000291890:M259I	M	+	3	0	NCR1	60115913	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-4.572000	0.00214	-2.641000	0.00429	-1.107000	0.02091	ATG		PASS	0.552	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			12	106	12	106	---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55447743	55447743	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:55447743C>A	ENST00000590030.1	-	5	2226	c.2186G>T	c.(2185-2187)gGg>gTg	p.G729V	NLRP7_ENST00000446217.1_Missense_Mutation_p.G757V|NLRP7_ENST00000328092.5_Missense_Mutation_p.G701V|NLRP7_ENST00000448121.2_Missense_Mutation_p.G701V|NLRP7_ENST00000340844.2_Missense_Mutation_p.G729V|NLRP7_ENST00000588756.1_Missense_Mutation_p.G729V|NLRP7_ENST00000592784.1_Missense_Mutation_p.G729V			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	729							ATP binding (GO:0005524)	p.G701V(1)|p.G729V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGTCTTCTTCCCAATGAAAGC	0.502																																						uc002qih.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(2185-2187)GGG>GTG		NACHT, leucine rich repeat and PYD containing 7							113.0	91.0	98.0					19																	55447743		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55447743C>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2186G>T	19.37:g.55447743C>A	ENSP00000465520:p.Gly729Val					NLRP7_uc002qig.3_Missense_Mutation_p.G701V|NLRP7_uc002qii.3_Missense_Mutation_p.G729V|NLRP7_uc010esk.2_Missense_Mutation_p.G729V|NLRP7_uc010esl.2_Missense_Mutation_p.G757V	p.G729V	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	2262	-			729					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.2186G>T	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903123	0.33628	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T	0.54279	0.58;0.58;0.58	2.21	-0.0711	0.13745	.	0.512988	0.14650	N	0.306637	T	0.59756	0.2217	M	0.61703	1.905	0.09310	N	0.999994	D;D;D;D	0.71674	0.997;0.983;0.983;0.998	D;D;D;D	0.70935	0.95;0.95;0.95;0.971	T	0.46911	-0.9157	10	0.38643	T	0.18	.	3.5018	0.07676	0.0:0.5689:0.2668:0.1643	.	757;729;729;701	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	V	729;701;729;757;496	ENSP00000409137:G701V;ENSP00000339491:G729V;ENSP00000414273:G757V	ENSP00000329568:G729V	G	-	2	0	NLRP7	60139555	0.001000	0.12720	0.001000	0.08648	0.117000	0.20001	0.500000	0.22562	0.066000	0.16515	0.561000	0.74099	GGG		PASS	0.502	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		14	49	14	49	---	---	---	---
DNAAF3	352909	broad.mit.edu	37	19	55670794	55670794	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:55670794T>A	ENST00000524407.2	-	12	1295	c.1262A>T	c.(1261-1263)gAg>gTg	p.E421V	TNNI3_ENST00000588882.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000587789.2_5'UTR|TNNI3_ENST00000590463.1_5'Flank|DNAAF3_ENST00000455045.1_Missense_Mutation_p.E367V|CTD-2587H24.4_ENST00000587871.1_Silent_p.G82G|TNNI3_ENST00000344887.5_5'Flank|DNAAF3_ENST00000391720.4_Missense_Mutation_p.E468V|DNAAF3_ENST00000527223.2_Missense_Mutation_p.E488V			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	421					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)		p.E468V(1)									CTGCAGCTGCTCCTGCCGCAC	0.627																																						uc002qji.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1261-1263)GAG>GTG		RecName: Full=UPF0470 protein C19orf51;							59.0	67.0	64.0					19																	55670794		1978	4166	6144	SO:0001583	missense	352909							g.chr19:55670794T>A	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.1262A>T	19.37:g.55670794T>A	ENSP00000432046:p.Glu421Val					TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.E236V|C19orf51_uc002qjj.1_Missense_Mutation_p.E468V|C19orf51_uc002qjk.1_Missense_Mutation_p.E367V|C19orf51_uc002qjl.1_Missense_Mutation_p.E488V	p.E421V			Q8N9W5	CS051_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	12	1296	-			421					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	c.1262A>T	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	t	16.39	3.110234	0.56398	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	T;T	0.20738	2.05;2.05	4.31	3.29	0.37713	.	0.124997	0.51477	D	0.000092	T	0.29882	0.0747	L	0.49126	1.545	0.32949	D	0.519534	D;D;D;D	0.58268	0.982;0.98;0.971;0.98	P;P;P;P	0.56612	0.802;0.731;0.714;0.711	T	0.38802	-0.9644	10	0.56958	D	0.05	-19.2079	8.7305	0.34496	0.0:0.0959:0.0:0.9041	.	488;367;441;421	E9PAX5;E3W9A1;Q8N9W5-3;Q8N9W5	.;.;.;CS051_HUMAN	V	488;367;468	ENSP00000394343:E367V;ENSP00000375600:E468V	ENSP00000301249:E488V	E	-	2	0	C19orf51	60362606	0.732000	0.28121	0.981000	0.43875	0.205000	0.24178	2.073000	0.41519	1.903000	0.55091	0.454000	0.30748	GAG		PASS	0.627	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		27	96	27	96	---	---	---	---
SBK2	646643	broad.mit.edu	37	19	56047654	56047654	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:56047654C>G	ENST00000413299.1	-	2	45	c.8G>C	c.(7-9)gGc>gCc	p.G3A	SBK2_ENST00000344158.3_Missense_Mutation_p.G3A	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	3							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G3A(2)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						AGACTGTTTGCCGGGCATCTC	0.677																																						uc010ygc.1																			2	Substitution - Missense(2)		lung(2)		0						c.(7-9)GGC>GCC		SH3-binding domain kinase family, member 2							18.0	21.0	20.0					19																	56047654		1993	4150	6143	SO:0001583	missense	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56047654C>G		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.8G>C	19.37:g.56047654C>G	ENSP00000389015:p.Gly3Ala						p.G3A	NM_001101401	NP_001094871	P0C263	SBK2_HUMAN			1	8	-			3						Missense_Mutation	SNP	ENST00000413299.1	37	c.8G>C	CCDS42631.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831013	0.32329	.	.	ENSG00000187550	ENST00000413299;ENST00000344158	T;T	0.69435	-0.4;-0.4	3.64	2.6	0.31112	.	.	.	.	.	T	0.46560	0.1399	N	0.19112	0.55	0.09310	N	1	B	0.21520	0.057	B	0.12156	0.007	T	0.25984	-1.0116	9	0.24483	T	0.36	-11.6093	7.0901	0.25279	0.0:0.872:0.0:0.128	.	3	P0C263	SBK2_HUMAN	A	3	ENSP00000389015:G3A;ENSP00000345044:G3A	ENSP00000345044:G3A	G	-	2	0	SBK2	60739466	0.022000	0.18835	0.005000	0.12908	0.084000	0.17831	1.444000	0.35068	0.882000	0.36016	0.313000	0.20887	GGC		PASS	0.677	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401		7	29	7	29	---	---	---	---
EPN1	29924	broad.mit.edu	37	19	56206529	56206529	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:56206529G>T	ENST00000270460.6	+	11	1849	c.1538G>T	c.(1537-1539)gGc>gTc	p.G513V	AC010525.7_ENST00000589698.1_lincRNA|AC010525.6_ENST00000587937.1_lincRNA|EPN1_ENST00000085079.7_Missense_Mutation_p.G487V|EPN1_ENST00000411543.2_Missense_Mutation_p.G599V|AC010525.4_ENST00000585559.1_RNA	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	513	3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.G513V(1)|p.G599V(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCAGCCACTGGCCCTTCCGTC	0.667																																						uc002qlw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1537-1539)GGC>GTC		epsin 1 isoform b							35.0	42.0	39.0					19																	56206529		2141	4234	6375	SO:0001583	missense	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56206529G>T	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1538G>T	19.37:g.56206529G>T	ENSP00000270460:p.Gly513Val					EPN1_uc002qlv.2_Missense_Mutation_p.G487V|EPN1_uc010etd.2_Missense_Mutation_p.G512V|EPN1_uc002qlx.2_Missense_Mutation_p.G599V	p.G513V	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	11	1880	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	513			Ala/Gly/Pro-rich.|3 X 3 AA repeats of N-P-F.		Q86ST3|Q9HA18	Missense_Mutation	SNP	ENST00000270460.6	37	c.1538G>T	CCDS46199.1	.	.	.	.	.	.	.	.	.	.	G	7.393	0.631265	0.14322	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.14022	2.58;2.58;2.54	3.99	3.99	0.46301	.	0.629902	0.15735	N	0.247220	T	0.06005	0.0156	N	0.03608	-0.345	0.48571	D	0.999678	B;P;B;B	0.35908	0.267;0.527;0.267;0.386	B;B;B;B	0.33620	0.08;0.144;0.08;0.167	T	0.45205	-0.9277	10	0.30078	T	0.28	-9.8898	10.6503	0.45645	0.0:0.3263:0.6737:0.0	.	473;599;513;487	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	V	513;487;473;599	ENSP00000270460:G513V;ENSP00000085079:G487V;ENSP00000406209:G599V	ENSP00000085079:G487V	G	+	2	0	EPN1	60898341	0.844000	0.29557	0.742000	0.31022	0.010000	0.07245	1.520000	0.35899	2.210000	0.71456	0.655000	0.94253	GGC		PASS	0.667	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		4	23	4	23	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56423149	56423149	+	Silent	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:56423149T>C	ENST00000342929.3	-	5	2033	c.2034A>G	c.(2032-2034)ctA>ctG	p.L678L	NLRP13_ENST00000588751.1_Silent_p.L678L	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	678							ATP binding (GO:0005524)	p.L678L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TACAGTGCTTTAGGCAAAATG	0.393																																						uc010ygg.1																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(2032-2034)CTA>CTG		NACHT, leucine rich repeat and PYD containing							91.0	95.0	94.0					19																	56423149		2202	4300	6502	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56423149T>C	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2034A>G	19.37:g.56423149T>C							p.L678L	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	2059	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	678					Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.2034A>G	CCDS33119.1																																																																																				PASS	0.393	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		55	193	55	193	---	---	---	---
ZNF470	388566	broad.mit.edu	37	19	57089033	57089034	+	Missense_Mutation	DNP	TA	TA	AT			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:57089033_57089034TA>AT	ENST00000330619.8	+	6	1922_1923	c.1236_1237TA>AT	c.(1234-1239)ctTAtt>ctATtt	p.I413F	ZNF470_ENST00000391709.3_Missense_Mutation_p.I413F|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	413					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.I413F(2)|p.L412L(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ACATAGGACTTATTCAGCATAA	0.411																																						uc002qnl.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|pancreas(1)	2						c.(1234-1236)CTT>CTA|c.(1237-1239)ATT>TTT		zinc finger protein 470																																				SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089033T>A|g.chr19:57089034A>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		Exception_encountered	19.37:g.57089033_57089034delinsAT	ENSP00000333223:p.Ile413Phe					ZNF470_uc010etn.2_Intron	p.L412L|p.I413F	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	1912|1913	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	412|413			C2H2-type 7.		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Silent|Missense_Mutation	SNP	ENST00000330619.8	37	c.1236T>A|c.1237A>T	CCDS33122.1																																																																																				PASS	0.411	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		23	105|102	23	102	---	---	---	---
ZNF548	147694	broad.mit.edu	37	19	57909923	57909923	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:57909923G>C	ENST00000366197.5	+	3	518	c.268G>C	c.(268-270)Ggc>Cgc	p.G90R	ZNF548_ENST00000336128.7_Missense_Mutation_p.G102R|ZNF548_ENST00000597400.1_3'UTR|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.4_ENST00000597658.1_Missense_Mutation_p.G93R|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	90					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.G102R(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGAGACATGTGGCCCACCCTT	0.488																																						uc002qom.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(268-270)GGC>CGC		zinc finger protein 548							100.0	97.0	98.0					19																	57909923		2059	4215	6274	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57909923G>C	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.268G>C	19.37:g.57909923G>C	ENSP00000379482:p.Gly90Arg					ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.G93R	p.G90R	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	518	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	90					Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.268G>C	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	8.452	0.853396	0.17106	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.05513	3.43;3.46	3.27	-1.7	0.08159	.	.	.	.	.	T	0.05868	0.0153	M	0.67517	2.055	0.09310	N	1	P;P	0.40794	0.729;0.61	B;B	0.32533	0.147;0.07	T	0.23511	-1.0186	9	0.52906	T	0.07	.	3.3929	0.07295	0.4389:0.0:0.3789:0.1822	.	102;90	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	R	102;90	ENSP00000337555:G102R;ENSP00000379482:G90R	ENSP00000337555:G102R	G	+	1	0	ZNF548	62601735	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	0.006000	0.13152	-0.340000	0.08388	-0.225000	0.12378	GGC		PASS	0.488	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		12	124	12	124	---	---	---	---
ZSCAN4	201516	broad.mit.edu	37	19	58187739	58187739	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:58187739G>A	ENST00000318203.5	+	3	923	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	76	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E76K(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCTGCAACCAGAAAAGCACAG	0.398																																						uc002qpu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(226-228)GAA>AAA		zinc finger and SCAN domain containing 4							96.0	93.0	94.0					19																	58187739		2203	4300	6503	SO:0001583	missense	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58187739G>A	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.226G>A	19.37:g.58187739G>A	ENSP00000321963:p.Glu76Lys						p.E76K	NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	923	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	76			SCAN box.		Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.226G>A	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669056	0.88348	.	.	ENSG00000180532	ENST00000318203	T	0.07216	3.21	4.95	4.95	0.65309	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	0.126916	0.36338	N	0.002641	T	0.32194	0.0821	M	0.85197	2.74	0.37051	D	0.897614	D	0.89917	1.0	D	0.91635	0.999	T	0.28776	-1.0033	10	0.72032	D	0.01	-32.3136	13.9009	0.63802	0.0:0.0:1.0:0.0	.	76	Q8NAM6	ZSCA4_HUMAN	K	76	ENSP00000321963:E76K	ENSP00000321963:E76K	E	+	1	0	ZSCAN4	62879551	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	3.100000	0.50275	2.745000	0.94114	0.655000	0.94253	GAA		PASS	0.398	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		7	137	7	137	---	---	---	---
ZNF135	7694	broad.mit.edu	37	19	58579503	58579503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:58579503G>T	ENST00000313434.5	+	5	1752	c.1651G>T	c.(1651-1653)Gaa>Taa	p.E551*	ZNF135_ENST00000439855.2_Nonsense_Mutation_p.E551*|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000401053.4_Nonsense_Mutation_p.E575*|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Nonsense_Mutation_p.E563*|ZNF135_ENST00000506786.1_Nonsense_Mutation_p.E509*	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	551					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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.E575*(1)|p.E551*(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GAAACCCTATGAATGTAACCA	0.537																																						uc010yhq.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1687-1689)GAA>TAA		zinc finger protein 135 isoform 2							91.0	87.0	88.0					19																	58579503		2203	4300	6503	SO:0001587	stop_gained	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58579503G>T	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1651G>T	19.37:g.58579503G>T	ENSP00000321406:p.Glu551*					ZNF135_uc002qre.2_Nonsense_Mutation_p.E551*|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Nonsense_Mutation_p.E509*|ZNF135_uc002qrg.2_Nonsense_Mutation_p.E521*|ZNF135_uc010yhr.1_Nonsense_Mutation_p.E372*	p.E563*	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1783	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	563					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Nonsense_Mutation	SNP	ENST00000313434.5	37	c.1687G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.19|12.19	1.863854|1.863854	0.32884|0.32884	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786|ENST00000391699	.|.	.|.	.|.	3.37|3.37	1.22|1.22	0.21188|0.21188	.|.	.|.	.|.	.|.	.|.	.|T	.|0.46639	.|0.1403	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.32745	.|-0.9895	.|4	0.02654|.	T|.	1|.	.|.	4.5901|4.5901	0.12302|0.12302	0.4745:0.0:0.5255:0.0|0.4745:0.0:0.5255:0.0	.|.	.|.	.|.	.|.	X|I	575;551;551;563;509|568	.|.	ENSP00000321406:E551X|.	E|M	+|+	1|3	0|0	ZNF135|ZNF135	63271315|63271315	0.000000|0.000000	0.05858|0.05858	0.732000|0.732000	0.30844|0.30844	0.008000|0.008000	0.06430|0.06430	-0.150000|-0.150000	0.10189|0.10189	0.765000|0.765000	0.33221|0.33221	-0.259000|-0.259000	0.10710|0.10710	GAA|ATG		PASS	0.537	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		19	84	19	84	---	---	---	---
ZNF274	10782	broad.mit.edu	37	19	58718552	58718552	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:58718552G>C	ENST00000326804.4	+	6	1179	c.720G>C	c.(718-720)tgG>tgC	p.W240C	ZNF274_ENST00000424679.2_Missense_Mutation_p.W135C|ZNF274_ENST00000345813.3_Missense_Mutation_p.W208C|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	241	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.W208C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GTGTGACCTGGATGTCTGAGG	0.562																																						uc002qrq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(721-723)TGG>TGC		zinc finger protein 274 isoform c							28.0	31.0	30.0					19																	58718552		2187	4292	6479	SO:0001583	missense	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58718552G>C	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.720G>C	19.37:g.58718552G>C	ENSP00000321209:p.Trp240Cys					ZNF274_uc010yhu.1_RNA|ZNF274_uc010yhv.1_RNA|ZNF274_uc002qrr.1_Missense_Mutation_p.W209C|ZNF274_uc002qrs.1_Missense_Mutation_p.W136C|ZNF274_uc010eum.1_5'UTR	p.W241C	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	7	1182	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	241			SCAN box.		Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37	c.723G>C		.	.	.	.	.	.	.	.	.	.	G	7.835	0.720755	0.15372	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.04156	3.69;3.69;3.69	4.46	2.27	0.28462	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	0.204155	0.24935	N	0.034428	T	0.13457	0.0326	.	.	.	0.24973	N	0.991652	D;D;D	0.89917	0.997;1.0;0.997	P;D;P	0.68353	0.823;0.957;0.889	T	0.01762	-1.1279	9	0.72032	D	0.01	-8.4377	6.4243	0.21760	0.2217:0.0:0.7783:0.0	.	136;209;241	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	C	240;208;135	ENSP00000321209:W240C;ENSP00000321187:W208C;ENSP00000409872:W135C	ENSP00000321209:W240C	W	+	3	0	ZNF274	63410364	0.000000	0.05858	0.143000	0.22291	0.103000	0.19146	0.085000	0.14912	1.152000	0.42452	0.655000	0.94253	TGG		PASS	0.562	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		5	22	5	22	---	---	---	---
CSNK2A1	1457	broad.mit.edu	37	20	470443	470443	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:470443C>G	ENST00000217244.3	-	10	1079	c.704G>C	c.(703-705)gGa>gCa	p.G235A	CSNK2A1_ENST00000400217.2_Missense_Mutation_p.G99A|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.G235A|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.G235A	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)	p.G235A(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ATTGTCATGTCCATGGAAAAA	0.383																																						uc002wdw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(703-705)GGA>GCA		casein kinase II alpha 1 subunit isoform a							96.0	85.0	89.0					20																	470443		2203	4300	6503	SO:0001583	missense	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:470443C>G	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.704G>C	20.37:g.470443C>G	ENSP00000217244:p.Gly235Ala					CSNK2A1_uc002wdx.1_Missense_Mutation_p.G235A|CSNK2A1_uc002wdy.1_Missense_Mutation_p.G99A	p.G235A	NM_177559	NP_808227	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		10	1097	-		Breast(17;0.231)	235			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	c.704G>C	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693335	0.88735	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.67171	-0.25;-0.25;-0.25;0.63	4.97	4.97	0.65823	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	T	0.80347	0.4606	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81899	-0.0721	10	0.87932	D	0	-1.2753	17.7447	0.88416	0.0:1.0:0.0:0.0	.	235	P68400	CSK21_HUMAN	A	235;235;235;235;99	ENSP00000383086:G235A;ENSP00000339247:G235A;ENSP00000217244:G235A;ENSP00000383076:G99A	ENSP00000217244:G235A	G	-	2	0	CSNK2A1	418443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.576000	0.82467	2.741000	0.93983	0.585000	0.79938	GGA		PASS	0.383	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		4	129	4	129	---	---	---	---
SNPH	9751	broad.mit.edu	37	20	1281296	1281296	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:1281296G>C	ENST00000381873.3	+	5	485	c.249G>C	c.(247-249)gaG>gaC	p.E83D	SNPH_ENST00000381867.1_Missense_Mutation_p.E127D	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	83					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)	p.E127D(1)|p.E83D(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGCAGAAGGAGGTGTGCATCC	0.657																																						uc002wes.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(247-249)GAG>GAC		syntaphilin							46.0	42.0	43.0					20																	1281296		2203	4300	6503	SO:0001583	missense	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1281296G>C		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.249G>C	20.37:g.1281296G>C	ENSP00000371297:p.Glu83Asp					SNPH_uc002wet.2_Missense_Mutation_p.E127D	p.E83D	NM_014723	NP_055538	O15079	SNPH_HUMAN			5	485	+			83			Potential.		Q8IYI3	Missense_Mutation	SNP	ENST00000381873.3	37	c.249G>C	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.009011	0.75046	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.98	1.76	0.24704	.	0.000000	0.85682	D	0.000000	T	0.70081	0.3183	M	0.68952	2.095	0.46901	D	0.999242	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.71066	-0.4700	9	0.87932	D	0	-28.1594	10.1407	0.42734	0.234:0.0:0.766:0.0	.	127;83	O15079-2;O15079	.;SNPH_HUMAN	D	83;127	.	ENSP00000371291:E127D	E	+	3	2	SNPH	1229296	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	1.558000	0.36309	0.616000	0.30141	-0.367000	0.07326	GAG		PASS	0.657	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		4	68	4	68	---	---	---	---
TGM3	7053	broad.mit.edu	37	20	2290881	2290881	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:2290881G>A	ENST00000381458.5	+	3	302	c.239G>A	c.(238-240)aGt>aAt	p.S80N		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	80					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)	p.S80N(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TCCAATGGCAGTAGTGGTGGC	0.542																																						uc002wfx.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|ovary(3)|breast(1)|skin(1)	9						c.(238-240)AGT>AAT		transglutaminase 3 precursor	L-Glutamine(DB00130)						130.0	121.0	124.0					20																	2290881		2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2290881G>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.239G>A	20.37:g.2290881G>A	ENSP00000370867:p.Ser80Asn						p.S80N	NM_003245	NP_003236	Q08188	TGM3_HUMAN			3	336	+			80					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.239G>A	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.611941	0.28712	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	T	0.42131	0.98	5.21	-0.785	0.10950	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	1.121610	0.06273	N	0.695932	T	0.28665	0.0710	L	0.28649	0.875	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.24440	-1.0160	10	0.20519	T	0.43	-7.2975	8.2696	0.31836	0.1771:0.5193:0.3036:0.0	.	80	Q08188	TGM3_HUMAN	N	80	ENSP00000370867:S80N	ENSP00000370867:S80N	S	+	2	0	TGM3	2238881	0.000000	0.05858	0.000000	0.03702	0.537000	0.34900	-1.835000	0.01692	0.218000	0.20820	0.313000	0.20887	AGT		PASS	0.542	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		69	139	69	139	---	---	---	---
LZTS3	9762	broad.mit.edu	37	20	3146652	3146652	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:3146652C>A	ENST00000329152.3	-	2	2211	c.814G>T	c.(814-816)Gac>Tac	p.D272Y	LZTS3_ENST00000360342.3_Missense_Mutation_p.D272Y|LZTS3_ENST00000337576.5_Missense_Mutation_p.D272Y			O60299	LZTS3_HUMAN		272						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.D272Y(1)									GTCCCCAGGTCCTGGTAGCCC	0.672																																						uc002wia.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(814-816)GAC>TAC		ProSAPiP1 protein							33.0	31.0	32.0					20																	3146652		2203	4300	6503	SO:0001583	missense	9762					cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr20:3146652C>A																												ENST00000329152.3:c.814G>T	20.37:g.3146652C>A	ENSP00000332123:p.Asp272Tyr					ProSAPiP1_uc002wib.1_Missense_Mutation_p.D272Y	p.D272Y	NM_014731	NP_055546	O60299	PRIP1_HUMAN			2	2212	-			272					A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	c.814G>T	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550800	0.86127	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.64438	-0.1;1.42;1.42	5.46	5.46	0.80206	.	0.161444	0.40302	N	0.001140	T	0.66147	0.2760	L	0.29908	0.895	0.53005	D	0.999961	D;D	0.60160	0.987;0.978	P;P	0.55303	0.773;0.496	T	0.68784	-0.5317	10	0.59425	D	0.04	-32.3492	19.3054	0.94161	0.0:1.0:0.0:0.0	.	272;272	O60299-2;O60299	.;PRIP1_HUMAN	Y	272	ENSP00000332123:D272Y;ENSP00000353496:D272Y;ENSP00000338166:D272Y	ENSP00000332123:D272Y	D	-	1	0	RP5-1187M17.10	3094652	0.892000	0.30473	1.000000	0.80357	0.995000	0.86356	2.695000	0.47043	2.556000	0.86216	0.561000	0.74099	GAC		PASS	0.672	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			7	60	7	60	---	---	---	---
PROKR2	128674	broad.mit.edu	37	20	5294721	5294721	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:5294721C>T	ENST00000217270.3	-	1	294	c.295G>A	c.(295-297)Gac>Aac	p.D99N	PROKR2_ENST00000546004.1_Missense_Mutation_p.D99N	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	99					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.D99N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						ACCAGGAAGTCGGAGATGGCC	0.572										HNSCC(71;0.22)																												uc010zqw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(295-297)GAC>AAC		prokineticin receptor 2							170.0	131.0	144.0					20																	5294721		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5294721C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.295G>A	20.37:g.5294721C>T	ENSP00000217270:p.Asp99Asn	HNSCC(71;0.22)				PROKR2_uc010zqx.1_Missense_Mutation_p.D99N|PROKR2_uc010zqy.1_Missense_Mutation_p.D99N|uc002wly.1_5'Flank	p.D99N	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			1	295	-			99			Helical; Name=2; (Potential).		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.295G>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	32	5.174533	0.94807	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	D;D	0.88431	-2.38;-2.38	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95306	0.8477	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95865	0.8886	10	0.87932	D	0	.	16.8404	0.85967	0.0:1.0:0.0:0.0	.	99	Q8NFJ6	PKR2_HUMAN	N	99	ENSP00000440790:D99N;ENSP00000217270:D99N	ENSP00000217270:D99N	D	-	1	0	PROKR2	5242721	1.000000	0.71417	0.975000	0.42487	0.957000	0.61999	6.005000	0.70716	2.637000	0.89404	0.655000	0.94253	GAC		PASS	0.572	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		31	84	31	84	---	---	---	---
PLCB1	23236	broad.mit.edu	37	20	8678350	8678350	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:8678350G>C	ENST00000338037.6	+	11	1114	c.1087G>C	c.(1087-1089)Gac>Cac	p.D363H	PLCB1_ENST00000378641.3_Missense_Mutation_p.D363H|PLCB1_ENST00000378637.2_Missense_Mutation_p.D363H	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	363	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.D363H(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGTGGAGCTGGACTGCTGGAA	0.473																																						uc002wnb.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(1087-1089)GAC>CAC		phosphoinositide-specific phospholipase C beta 1							215.0	185.0	195.0					20																	8678350		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8678350G>C	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1087G>C	20.37:g.8678350G>C	ENSP00000338185:p.Asp363His					PLCB1_uc010zrb.1_Missense_Mutation_p.D262H|PLCB1_uc002wna.2_Missense_Mutation_p.D363H|PLCB1_uc002wnc.1_Missense_Mutation_p.D262H	p.D363H	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			11	1090	+			363			PI-PLC X-box.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.1087G>C	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037077	0.93630	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.65364	-0.15;-0.15;-0.15	5.65	5.65	0.86999	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.087856	0.85682	D	0.000000	D	0.88983	0.6586	H	0.99357	4.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93323	0.6694	10	0.87932	D	0	.	19.7226	0.96148	0.0:0.0:1.0:0.0	.	363;363	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	H	363;363;363;283;283	ENSP00000367908:D363H;ENSP00000338185:D363H;ENSP00000367904:D363H	ENSP00000338185:D363H	D	+	1	0	PLCB1	8626350	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.674000	0.98633	2.662000	0.90505	0.655000	0.94253	GAC		PASS	0.473	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			25	257	25	257	---	---	---	---
SNAP25	6616	broad.mit.edu	37	20	10286827	10286827	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:10286827G>C	ENST00000254976.2	+	8	814	c.603G>C	c.(601-603)aaG>aaC	p.K201N	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000495883.1_3'UTR|SNAP25_ENST00000304886.2_Missense_Mutation_p.K201N|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	201	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)	p.K201N(2)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GTGCAACAAAGATGCTGGGAA	0.453																																						uc002wnq.1																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(601-603)AAG>AAC		synaptosomal-associated protein 25 isoform	Botulinum Toxin Type A(DB00083)						136.0	102.0	113.0					20																	10286827		2203	4300	6503	SO:0001583	missense	6616				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		g.chr20:10286827G>C		CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.603G>C	20.37:g.10286827G>C	ENSP00000254976:p.Lys201Asn					SNAP25_uc002wnr.1_Missense_Mutation_p.K201N|SNAP25_uc002wns.1_Missense_Mutation_p.K138N|SNAP25_uc010gca.1_Missense_Mutation_p.K201N|SNAP25_uc010gcb.1_Missense_Mutation_p.K138N|SNAP25_uc010gcc.1_Missense_Mutation_p.K95N	p.K201N	NM_130811	NP_570824	P60880	SNP25_HUMAN			8	815	+			201			t-SNARE coiled-coil homology 2.		B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Missense_Mutation	SNP	ENST00000254976.2	37	c.603G>C	CCDS13110.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853753	0.51270	.	.	ENSG00000132639	ENST00000254976;ENST00000304886	.	.	.	6.08	6.08	0.98989	Target SNARE coiled-coil domain (3);	0.086903	0.85682	D	0.000000	T	0.67655	0.2916	M	0.64170	1.965	0.80722	D	1	B;B	0.14805	0.011;0.011	B;B	0.18561	0.018;0.022	T	0.60063	-0.7336	9	0.30854	T	0.27	-12.4658	20.6721	0.99693	0.0:0.0:1.0:0.0	.	201;201	P60880-2;P60880	.;SNP25_HUMAN	N	201	.	ENSP00000254976:K201N	K	+	3	2	SNAP25	10234827	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.965000	0.87945	2.894000	0.99253	0.591000	0.81541	AAG		PASS	0.453	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077976.3	NM_130811		17	57	17	57	---	---	---	---
MACROD2	140733	broad.mit.edu	37	20	14066369	14066369	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:14066369A>G	ENST00000310348.4	+	3	266	c.266A>G	c.(265-267)aAt>aGt	p.N89S	MACROD2_ENST00000217246.4_Missense_Mutation_p.N89S			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	89	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.N89S(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GCTATAGTCAATGCCGGTGAG	0.313																																						uc002wou.2																			1	Substitution - Missense(1)		lung(1)		0						c.(265-267)AAT>AGT		MACRO domain containing 2 isoform 1							86.0	80.0	82.0					20																	14066369		1830	4078	5908	SO:0001583	missense	140733							g.chr20:14066369A>G	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.266A>G	20.37:g.14066369A>G	ENSP00000309809:p.Asn89Ser					MACROD2_uc002wot.2_Missense_Mutation_p.N89S	p.N89S	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN			3	530	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	89			Macro.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.266A>G	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.991527	0.74703	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.40476	1.03;1.03	5.97	5.97	0.96955	Appr-1-p processing (3);	0.057138	0.64402	N	0.000002	T	0.77336	0.4115	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.993;0.977	D	0.85748	0.1341	10	0.87932	D	0	-17.8909	14.4055	0.67079	1.0:0.0:0.0:0.0	.	89;89	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	S	89	ENSP00000217246:N89S;ENSP00000309809:N89S	ENSP00000217246:N89S	N	+	2	0	MACROD2	14014369	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.199000	0.72112	2.285000	0.76669	0.477000	0.44152	AAT		PASS	0.313	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		14	53	14	53	---	---	---	---
PAX1	5075	broad.mit.edu	37	20	21687476	21687476	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:21687476G>C	ENST00000398485.2	+	2	741	c.687G>C	c.(685-687)gcG>gcC	p.A229A	PAX1_ENST00000444366.2_Silent_p.A205A|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	229					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A135A(1)|p.A229A(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCAGCCTGGCGCAGCCCGGAC	0.647																																						uc002wsj.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|kidney(1)	2						c.(685-687)GCG>GCC		paired box 1							39.0	45.0	43.0					20																	21687476		2202	4298	6500	SO:0001819	synonymous_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687476G>C		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.687G>C	20.37:g.21687476G>C						PAX1_uc010zsl.1_Silent_p.A229A|PAX1_uc010zsm.1_Silent_p.A205A	p.A229A	NM_006192	NP_006183	P15863	PAX1_HUMAN			2	741	+			229					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	c.687G>C	CCDS13146.2																																																																																				PASS	0.647	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			10	35	10	35	---	---	---	---
NAPB	63908	broad.mit.edu	37	20	23361892	23361892	+	Silent	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:23361892T>C	ENST00000377026.4	-	8	709	c.624A>G	c.(622-624)aaA>aaG	p.K208K	NAPB_ENST00000398425.3_Silent_p.K114K|NAPB_ENST00000432543.2_Silent_p.K169K|NAPB_ENST00000472855.1_5'UTR|RNA5SP479_ENST00000364858.1_RNA	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	208					intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)		p.K208K(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					AGAGGGCAGCTTTGAAGAAGT	0.398																																						uc002wta.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(622-624)AAA>AAG		N-ethylmaleimide-sensitive factor attachment							159.0	138.0	145.0					20																	23361892		2203	4300	6503	SO:0001819	synonymous_variant	63908				intracellular protein transport|vesicle-mediated transport	membrane		g.chr20:23361892T>C	AK022817	CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1	20p12.3-p11.21	2008-08-01			ENSG00000125814	ENSG00000125814			15751	protein-coding gene	gene with protein product		611270				8455721	Standard	NM_022080		Approved	SNAP-BETA, SNAPB	uc002wta.3	Q9H115	OTTHUMG00000032062	ENST00000377026.4:c.624A>G	20.37:g.23361892T>C						NAPB_uc002wtc.2_Silent_p.K114K|NAPB_uc002wtb.2_Silent_p.K212K|NAPB_uc002wtd.3_RNA|NAPB_uc010zss.1_Silent_p.K95K|NAPB_uc010zst.1_Silent_p.K169K	p.K208K	NM_022080	NP_071363	Q9H115	SNAB_HUMAN			8	741	-	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)		208					B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4	Silent	SNP	ENST00000377026.4	37	c.624A>G	CCDS13152.1																																																																																				PASS	0.398	NAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078317.2	NM_022080		44	236	44	236	---	---	---	---
SYNDIG1	79953	broad.mit.edu	37	20	24523908	24523908	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:24523908C>A	ENST00000376862.3	+	2	808	c.175C>A	c.(175-177)Ccg>Acg	p.P59T		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	59					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)	p.P59T(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CAGCACAGTGCCGGCCAGCCT	0.617																																						uc002wtw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)CCG>ACG		transmembrane protein 90B							40.0	45.0	43.0					20																	24523908		2203	4300	6503	SO:0001583	missense	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24523908C>A	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.175C>A	20.37:g.24523908C>A	ENSP00000366058:p.Pro59Thr						p.P59T	NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN			2	808	+			59			Cytoplasmic (Potential).		Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	c.175C>A	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	C	2.675	-0.276618	0.05679	.	.	ENSG00000101463	ENST00000376862	D	0.90133	-2.62	5.59	1.47	0.22746	.	0.479345	0.22014	N	0.065827	D	0.83599	0.5289	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.72462	-0.4286	10	0.54805	T	0.06	-2.5652	4.8768	0.13660	0.0:0.5878:0.1554:0.2567	.	59	Q9H7V2	SYNG1_HUMAN	T	59	ENSP00000366058:P59T	ENSP00000366058:P59T	P	+	1	0	SYNDIG1	24471908	0.011000	0.17503	0.001000	0.08648	0.212000	0.24457	0.939000	0.28978	0.047000	0.15862	0.561000	0.74099	CCG		PASS	0.617	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		32	80	32	80	---	---	---	---
PLAGL2	5326	broad.mit.edu	37	20	30784767	30784767	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:30784767G>C	ENST00000246229.4	-	3	1243	c.979C>G	c.(979-981)Ctg>Gtg	p.L327V		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	327					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L327V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGGATTCCAGAGGGTAGCTC	0.572																																					Colon(163;15 1893 11280 16306 47518)	uc002wxn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(979-981)CTG>GTG		pleiomorphic adenoma gene-like 2							89.0	93.0	92.0					20																	30784767		2203	4299	6502	SO:0001583	missense	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30784767G>C		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.979C>G	20.37:g.30784767G>C	ENSP00000246229:p.Leu327Val						p.L327V	NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	1196	-			327					A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	ENST00000246229.4	37	c.979C>G	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	G	4.431	0.079739	0.08533	.	.	ENSG00000126003	ENST00000246229	T	0.08896	3.04	5.03	4.09	0.47781	.	0.183563	0.47093	D	0.000241	T	0.06188	0.0160	L	0.29908	0.895	0.34211	D	0.674289	B	0.22003	0.063	B	0.26310	0.068	T	0.23368	-1.0190	10	0.12430	T	0.62	.	8.6963	0.34298	0.076:0.0:0.7738:0.1502	.	327	Q9UPG8	PLAL2_HUMAN	V	327	ENSP00000246229:L327V	ENSP00000246229:L327V	L	-	1	2	PLAGL2	30248428	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.341000	0.52151	1.488000	0.48433	0.650000	0.86243	CTG		PASS	0.572	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		9	289	9	289	---	---	---	---
BPIFB4	149954	broad.mit.edu	37	20	31685537	31685537	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:31685537G>A	ENST00000375483.3	+	11	1513	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	505						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.E466K(1)									GGCCACTGCCGAGGTCATGGT	0.582																																						uc010zue.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1513-1515)GAG>AAG		antimicrobial peptide RY2G5 precursor							120.0	88.0	99.0					20																	31685537		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31685537G>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1513G>A	20.37:g.31685537G>A	ENSP00000364632:p.Glu505Lys						p.E505K	NM_182519	NP_872325	P59827	LPLC4_HUMAN			11	1528	+			505					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.1513G>A	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958889	0.74016	.	.	ENSG00000186191	ENST00000375483	T	0.08458	3.09	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	T	0.29976	0.0750	M	0.77820	2.39	0.42055	D	0.991138	D	0.89917	1.0	D	0.81914	0.995	T	0.00896	-1.1523	10	0.59425	D	0.04	-25.5924	15.1038	0.72303	0.0:0.0:1.0:0.0	.	505	P59827	BPIB4_HUMAN	K	505	ENSP00000364632:E505K	ENSP00000364632:E505K	E	+	1	0	BPIFB4	31149198	1.000000	0.71417	0.951000	0.38953	0.492000	0.33523	5.177000	0.65032	2.711000	0.92665	0.462000	0.41574	GAG		PASS	0.582	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		11	120	11	120	---	---	---	---
EIF2S2	8894	broad.mit.edu	37	20	32677584	32677584	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:32677584G>T	ENST00000374980.2	-	9	1175	c.954C>A	c.(952-954)ttC>ttA	p.F318L		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	318					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.F318L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						TGACAGCCTGGAAGCCGGTTT	0.488																																						uc002xaf.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(952-954)TTC>TTA		eukaryotic translation initiation factor 2 beta							100.0	84.0	89.0					20																	32677584		2203	4300	6503	SO:0001583	missense	8894					cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	g.chr20:32677584G>T	M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	3266	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 67"""	603908	"""eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"""	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.954C>A	20.37:g.32677584G>T	ENSP00000364119:p.Phe318Leu					EIF2S2_uc002xag.2_Missense_Mutation_p.F315L|EIF2S2_uc010ges.2_Missense_Mutation_p.F258L	p.F318L	NM_003908	NP_003899	P20042	IF2B_HUMAN			9	1123	-			318					Q9BVU0|Q9UJE4	Missense_Mutation	SNP	ENST00000374980.2	37	c.954C>A	CCDS13231.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095259	0.94197	.	.	ENSG00000125977	ENST00000374980	T	0.68331	-0.32	6.13	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.82222	0.4990	M	0.84585	2.705	0.80722	D	1	P;P;P	0.49447	0.855;0.924;0.924	P;P;P	0.60682	0.667;0.878;0.878	D	0.85515	0.1200	10	0.87932	D	0	-0.6712	15.7461	0.77944	0.0651:0.0:0.9349:0.0	.	318;318;318	B5BU01;Q6IBR8;P20042	.;.;IF2B_HUMAN	L	318	ENSP00000364119:F318L	ENSP00000364119:F318L	F	-	3	2	EIF2S2	32141245	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.964000	0.87933	1.625000	0.50366	-0.156000	0.13503	TTC		PASS	0.488	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078765.2	NM_003908		18	122	18	122	---	---	---	---
GGT7	2686	broad.mit.edu	37	20	33442668	33442668	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:33442668G>A	ENST00000336431.5	-	9	1205	c.1161C>T	c.(1159-1161)ctC>ctT	p.L387L	GGT7_ENST00000469018.1_5'Flank	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	387					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.L387L(1)		NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CCAGGATGTTGAGAGCACTGA	0.592																																						uc002xay.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1159-1161)CTC>CTT		gamma-glutamyltransferase 7							86.0	71.0	76.0					20																	33442668		2203	4300	6503	SO:0001819	synonymous_variant	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33442668G>A	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1161C>T	20.37:g.33442668G>A						GGT7_uc002xaz.1_Silent_p.L404L	p.L387L	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN			9	1204	-			387			Extracellular (Potential).		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Silent	SNP	ENST00000336431.5	37	c.1161C>T	CCDS13242.2																																																																																				PASS	0.592	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		4	86	4	86	---	---	---	---
TRPC4AP	26133	broad.mit.edu	37	20	33591291	33591291	+	Silent	SNP	G	G	C	rs151041246		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:33591291G>C	ENST00000252015.2	-	18	2267	c.2178C>G	c.(2176-2178)ctC>ctG	p.L726L	TRPC4AP_ENST00000451813.2_Silent_p.L718L|TRPC4AP_ENST00000539834.1_Silent_p.L328L|TRPC4AP_ENST00000432634.2_Silent_p.L687L			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	726					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.L726L(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGAAGTTGTTGAGCAGGAAGC	0.612																																						uc002xbk.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2176-2178)CTC>CTG		TRPC4-associated protein isoform a							65.0	61.0	62.0					20																	33591291		2203	4300	6503	SO:0001819	synonymous_variant	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33591291G>C	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.2178C>G	20.37:g.33591291G>C						TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Silent_p.L317L|TRPC4AP_uc002xbl.2_Silent_p.L718L|TRPC4AP_uc010zur.1_Silent_p.L687L	p.L726L	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		18	2212	-			726					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	ENST00000252015.2	37	c.2178C>G	CCDS13246.1																																																																																				PASS	0.612	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		14	68	14	68	---	---	---	---
TRPC4AP	26133	broad.mit.edu	37	20	33595396	33595396	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:33595396G>A	ENST00000252015.2	-	14	1732	c.1643C>T	c.(1642-1644)tCc>tTc	p.S548F	TRPC4AP_ENST00000451813.2_Missense_Mutation_p.S540F|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.S150F|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.S509F			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	548					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.S548F(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTCTGCATAGGAGGTGGTCCC	0.607																																						uc002xbk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1642-1644)TCC>TTC		TRPC4-associated protein isoform a							108.0	101.0	103.0					20																	33595396		2203	4300	6503	SO:0001583	missense	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33595396G>A	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1643C>T	20.37:g.33595396G>A	ENSP00000252015:p.Ser548Phe					TRPC4AP_uc002xbj.2_5'Flank|TRPC4AP_uc010zuq.1_Missense_Mutation_p.S139F|TRPC4AP_uc002xbl.2_Missense_Mutation_p.S540F|TRPC4AP_uc010zur.1_Missense_Mutation_p.S509F|TRPC4AP_uc002xbm.1_3'UTR	p.S548F	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		14	1677	-			548					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.1643C>T	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900533	0.92035	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.53626	0.1808	L	0.59436	1.845	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72338	0.977;0.977;0.977	T	0.54569	-0.8274	10	0.72032	D	0.01	.	18.796	0.91994	0.0:0.0:1.0:0.0	.	509;540;548	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	F	548;540;150;509;533	ENSP00000252015:S548F;ENSP00000400614:S540F;ENSP00000446090:S150F;ENSP00000400497:S509F	ENSP00000252015:S548F	S	-	2	0	TRPC4AP	33059057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.255000	0.95524	2.670000	0.90874	0.655000	0.94253	TCC		PASS	0.607	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		19	92	19	92	---	---	---	---
SPAG4	6676	broad.mit.edu	37	20	34205126	34205126	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:34205126G>C	ENST00000374273.3	+	2	485	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	SPAG4_ENST00000462896.1_3'UTR	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	125					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.E125Q(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)			TCTGAGGCAGGAGATGCCTCC	0.637																																						uc002xdb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(373-375)GAG>CAG		sperm associated antigen 4							27.0	28.0	28.0					20																	34205126		2203	4300	6503	SO:0001583	missense	6676				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	g.chr20:34205126G>C	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.373G>C	20.37:g.34205126G>C	ENSP00000363391:p.Glu125Gln					SPAG4_uc010zvi.1_Missense_Mutation_p.E48Q	p.E125Q	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		2	490	+	Lung NSC(9;0.0053)|all_lung(11;0.00785)		125					O43648	Missense_Mutation	SNP	ENST00000374273.3	37	c.373G>C	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069113	0.55539	.	.	ENSG00000061656	ENST00000374273	T	0.15256	2.44	4.18	4.18	0.49190	.	0.400280	0.24666	N	0.036581	T	0.16471	0.0396	L	0.53249	1.67	0.34885	D	0.744914	B	0.34200	0.441	B	0.28553	0.091	T	0.21177	-1.0253	10	0.56958	D	0.05	-10.6248	12.2895	0.54810	0.0:0.0:1.0:0.0	.	125	Q9NPE6	SPAG4_HUMAN	Q	125	ENSP00000363391:E125Q	ENSP00000363391:E125Q	E	+	1	0	SPAG4	33668540	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.902000	0.48703	2.630000	0.89119	0.561000	0.74099	GAG		PASS	0.637	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116		2	7	2	7	---	---	---	---
EPB41L1	2036	broad.mit.edu	37	20	34773052	34773052	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:34773052C>T	ENST00000338074.2	+	7	741	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L	EPB41L1_ENST00000373946.3_Silent_p.L163L|EPB41L1_ENST00000373950.2_Silent_p.L97L|EPB41L1_ENST00000373941.1_Silent_p.L194L|EPB41L1_ENST00000441639.1_Silent_p.L132L|EPB41L1_ENST00000202028.5_Silent_p.L132L	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	194	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.L194L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CTACCTGTGCCTGCAGCTGCG	0.592																																						uc002xfb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(580-582)CTG>TTG		erythrocyte membrane protein band 4.1-like 1							61.0	60.0	60.0					20																	34773052		2203	4300	6503	SO:0001819	synonymous_variant	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34773052C>T	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.580C>T	20.37:g.34773052C>T						EPB41L1_uc002xeu.2_Silent_p.L132L|EPB41L1_uc010zvo.1_Silent_p.L194L|EPB41L1_uc002xev.2_Silent_p.L194L|EPB41L1_uc002xew.2_Silent_p.L97L|EPB41L1_uc002xex.2_Silent_p.L163L|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Silent_p.L132L	p.L194L	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN			7	751	+	Breast(12;0.0239)		194			FERM.		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	ENST00000338074.2	37	c.580C>T	CCDS13271.1																																																																																				PASS	0.592	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		4	94	4	94	---	---	---	---
ACTR5	79913	broad.mit.edu	37	20	37383748	37383748	+	Silent	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:37383748C>A	ENST00000243903.4	+	4	961	c.924C>A	c.(922-924)ctC>ctA	p.L308L		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	308					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)		p.L308L(1)		kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				TGCAGGAGCTCAATGCCCGGC	0.602																																						uc002xjd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(922-924)CTC>CTA		ARP5 actin-related protein 5 homolog							27.0	30.0	29.0					20																	37383748		2203	4300	6503	SO:0001819	synonymous_variant	79913				DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding	g.chr20:37383748C>A	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.924C>A	20.37:g.37383748C>A							p.L308L	NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN			4	949	+		Myeloproliferative disorder(115;0.00878)	308			Potential.		Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	ENST00000243903.4	37	c.924C>A	CCDS13308.1																																																																																				PASS	0.602	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		3	34	3	34	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40980734	40980734	+	Silent	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:40980734G>T	ENST00000373187.1	-	10	1751	c.1752C>A	c.(1750-1752)acC>acA	p.T584T	PTPRT_ENST00000356100.2_Silent_p.T584T|PTPRT_ENST00000373201.1_Silent_p.T584T|PTPRT_ENST00000373198.4_Silent_p.T584T|PTPRT_ENST00000373193.3_Silent_p.T584T|PTPRT_ENST00000373184.1_Silent_p.T584T|PTPRT_ENST00000373190.1_Silent_p.T584T			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	584	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.T584T(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTGAAATTTTGGTGGCAATCC	0.468																																						uc002xkg.2																			1	Substitution - coding silent(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(1750-1752)ACC>ACA		protein tyrosine phosphatase, receptor type, T							77.0	79.0	79.0					20																	40980734		1891	4122	6013	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40980734G>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1752C>A	20.37:g.40980734G>T						PTPRT_uc010ggj.2_Silent_p.T584T	p.T584T	NM_007050	NP_008981	O14522	PTPRT_HUMAN			10	1936	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	584			Extracellular (Potential).|Fibronectin type-III 3.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.1752C>A	CCDS42874.1																																																																																				PASS	0.468	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			48	76	48	76	---	---	---	---
MATN4	8785	broad.mit.edu	37	20	43926926	43926926	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:43926926G>A	ENST00000372754.1	-	7	1441	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F	MATN4_ENST00000360607.6_Missense_Mutation_p.S396F|MATN4_ENST00000372751.4_Missense_Mutation_p.S288F|MATN4_ENST00000537548.1_Missense_Mutation_p.S437F|MATN4_ENST00000372756.1_Missense_Mutation_p.S437F|MATN4_ENST00000353917.5_Missense_Mutation_p.S355F|MATN4_ENST00000342716.4_Missense_Mutation_p.S437F			O95460	MATN4_HUMAN	matrilin 4	478	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)		p.S437F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CTGCGCCTCGGAGAAGCTGTG	0.667																																						uc002xnn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1309-1311)TCC>TTC		matrilin 4 isoform 1 precursor							63.0	55.0	57.0					20																	43926926		2203	4300	6503	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43926926G>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1433C>T	20.37:g.43926926G>A	ENSP00000361840:p.Ser478Phe					MATN4_uc002xno.2_Missense_Mutation_p.S396F|MATN4_uc002xnp.2_Missense_Mutation_p.S355F|MATN4_uc010zwr.1_Missense_Mutation_p.S385F|MATN4_uc002xnr.1_Missense_Mutation_p.S437F	p.S437F	NM_003833	NP_003824	O95460	MATN4_HUMAN			7	1497	-		Myeloproliferative disorder(115;0.0122)	478			VWFA 2.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.1310C>T		.	.	.	.	.	.	.	.	.	.	G	25.4	4.629317	0.87560	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	D;D;D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	5.46	5.46	0.80206	.	0.000000	0.43416	D	0.000573	D	0.93363	0.7884	M	0.86740	2.835	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.998	D;P;D	0.72982	0.979;0.898;0.97	D	0.94130	0.7387	10	0.72032	D	0.01	.	18.3439	0.90314	0.0:0.0:1.0:0.0	.	355;396;437	A6NNA4;O95460-4;O95460-2	.;.;.	F	288;478;437;355;396;437;437;478;288	ENSP00000361839:S288F;ENSP00000361840:S478F;ENSP00000361842:S437F;ENSP00000243983:S355F;ENSP00000353819:S396F;ENSP00000343164:S437F;ENSP00000440328:S437F;ENSP00000361837:S288F	ENSP00000255132:S478F	S	-	2	0	MATN4	43360340	1.000000	0.71417	0.996000	0.52242	0.862000	0.49288	7.827000	0.86722	2.559000	0.86315	0.644000	0.83932	TCC		PASS	0.667	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			11	60	11	60	---	---	---	---
SLC13A3	64849	broad.mit.edu	37	20	45204214	45204214	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:45204214C>G	ENST00000279027.4	-	10	1348	c.1330G>C	c.(1330-1332)Gag>Cag	p.E444Q	SLC13A3_ENST00000290317.5_Missense_Mutation_p.E397Q|SLC13A3_ENST00000396360.1_Missense_Mutation_p.E362Q|SLC13A3_ENST00000413164.2_Missense_Mutation_p.E394Q|SLC13A3_ENST00000472148.1_Missense_Mutation_p.E362Q|SLC13A3_ENST00000495082.1_Missense_Mutation_p.E397Q|SLC13A3_ENST00000435032.1_Intron	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	444					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.E444Q(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGTCTTACCTCACAGCCTTTG	0.632																																						uc002xsf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1330-1332)GAG>CAG		solute carrier family 13 member 3 isoform a	Succinic acid(DB00139)						53.0	42.0	45.0					20																	45204214		2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45204214C>G	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1330G>C	20.37:g.45204214C>G	ENSP00000279027:p.Glu444Gln					SLC13A3_uc010ghn.1_Missense_Mutation_p.E413Q|SLC13A3_uc010zxw.1_Missense_Mutation_p.E394Q|SLC13A3_uc002xsg.1_Missense_Mutation_p.E397Q|SLC13A3_uc010gho.1_Missense_Mutation_p.E362Q|SLC13A3_uc010zxx.1_Missense_Mutation_p.E346Q|SLC13A3_uc010zxv.1_Intron	p.E444Q	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN			10	1368	-		Myeloproliferative disorder(115;0.0122)	444			Cytoplasmic (Potential).		B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.1330G>C	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430354	0.83776	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915	T;T;T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0;4.0;4.0	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.12263	0.0298	L	0.46819	1.47	0.80722	D	1	P;P;P;P	0.48503	0.72;0.622;0.911;0.673	P;B;P;P	0.59357	0.856;0.336;0.586;0.467	T	0.00920	-1.1514	10	0.52906	T	0.07	-25.3699	17.6296	0.88103	0.0:1.0:0.0:0.0	.	394;362;397;444	B4DIR8;Q8WWT9-3;F6WI18;Q8WWT9	.;.;.;S13A3_HUMAN	Q	397;362;444;362;394;397;397	ENSP00000290317:E397Q;ENSP00000379648:E362Q;ENSP00000279027:E444Q;ENSP00000420177:E362Q;ENSP00000415852:E394Q;ENSP00000419621:E397Q;ENSP00000417784:E397Q	ENSP00000279027:E444Q	E	-	1	0	SLC13A3	44637621	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.897000	0.69831	2.399000	0.81585	0.655000	0.94253	GAG		PASS	0.632	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			3	12	3	12	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47266640	47266640	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:47266640G>C	ENST00000371941.3	-	24	2944	c.2922C>G	c.(2920-2922)atC>atG	p.I974M	PREX1_ENST00000396220.1_Missense_Mutation_p.I974M	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	974					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I974M(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCATGAGGTTGATGTGGCAAT	0.622																																						uc002xtw.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(2920-2922)ATC>ATG		phosphatidylinositol-3,4,							112.0	114.0	114.0					20																	47266640		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47266640G>C	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2922C>G	20.37:g.47266640G>C	ENSP00000361009:p.Ile974Met					PREX1_uc002xtv.1_Missense_Mutation_p.I271M	p.I974M	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		24	2945	-			974					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.2922C>G	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.519970	0.64634	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.39787	1.06;1.06	5.71	4.71	0.59529	.	0.442806	0.17467	U	0.173224	T	0.49677	0.1571	L	0.55481	1.735	0.34171	D	0.66974	P;P	0.43788	0.726;0.817	P;P	0.55055	0.581;0.767	T	0.62627	-0.6814	10	0.87932	D	0	.	5.9059	0.19001	0.1781:0.1999:0.622:0.0	.	974;271	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	M	974	ENSP00000361009:I974M;ENSP00000379522:I974M	ENSP00000361009:I974M	I	-	3	3	PREX1	46700047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.949000	0.40313	2.709000	0.92574	0.655000	0.94253	ATC		PASS	0.622	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		42	197	42	197	---	---	---	---
TSHZ2	128553	broad.mit.edu	37	20	51871800	51871800	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:51871800G>C	ENST00000371497.5	+	2	2690	c.1803G>C	c.(1801-1803)aaG>aaC	p.K601N	TSHZ2_ENST00000603338.2_Missense_Mutation_p.K598N|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.K598N	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	601					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K601N(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTCAAGTCAAGAAAGAGTCAG	0.512																																						uc002xwo.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(1801-1803)AAG>AAC		teashirt zinc finger homeobox 2							98.0	99.0	99.0					20																	51871800		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871800G>C	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1803G>C	20.37:g.51871800G>C	ENSP00000360552:p.Lys601Asn						p.K601N	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2759	+			601					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.1803G>C	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.641627	0.29157	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.16073	2.37;2.38	5.59	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.37293	0.0998	L	0.56769	1.78	0.54753	D	0.999986	D	0.76494	0.999	D	0.80764	0.994	T	0.07966	-1.0745	10	0.45353	T	0.12	-8.8768	14.4539	0.67404	0.071:0.0:0.929:0.0	.	601	Q9NRE2	TSH2_HUMAN	N	601;598;127	ENSP00000360552:K601N;ENSP00000333114:K598N	ENSP00000333114:K598N	K	+	3	2	TSHZ2	51305207	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	4.042000	0.57347	1.376000	0.46267	0.643000	0.83706	AAG		PASS	0.512	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		10	189	10	189	---	---	---	---
TSHZ2	128553	broad.mit.edu	37	20	51871975	51871975	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:51871975G>C	ENST00000371497.5	+	2	2865	c.1978G>C	c.(1978-1980)Gag>Cag	p.E660Q	TSHZ2_ENST00000603338.2_Missense_Mutation_p.E657Q|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E657Q	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	660					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E660Q(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCTGATGAAAGAGGGCAGCGA	0.597																																						uc002xwo.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(1978-1980)GAG>CAG		teashirt zinc finger homeobox 2							55.0	56.0	56.0					20																	51871975		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871975G>C	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1978G>C	20.37:g.51871975G>C	ENSP00000360552:p.Glu660Gln						p.E660Q	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2934	+			660					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.1978G>C	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397650	0.25205	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.38560	1.13;1.13	5.53	5.53	0.82687	.	0.382752	0.29558	N	0.011808	T	0.33030	0.0849	L	0.28115	0.83	0.32670	N	0.516929	B	0.10296	0.003	B	0.08055	0.003	T	0.38585	-0.9654	10	0.54805	T	0.06	-7.8115	14.9998	0.71462	0.0:0.1421:0.8579:0.0	.	660	Q9NRE2	TSH2_HUMAN	Q	660;657;186	ENSP00000360552:E660Q;ENSP00000333114:E657Q	ENSP00000333114:E657Q	E	+	1	0	TSHZ2	51305382	1.000000	0.71417	0.730000	0.30809	0.583000	0.36354	5.761000	0.68801	2.593000	0.87608	0.643000	0.83706	GAG		PASS	0.597	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		40	48	40	48	---	---	---	---
CDH26	60437	broad.mit.edu	37	20	58571034	58571034	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:58571034G>A	ENST00000244047.5	+	12	2124	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	CDH26_ENST00000348616.4_Missense_Mutation_p.E605K|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000244049.3_5'Flank|CDH26_ENST00000497614.1_3'UTR			Q8IXH8	CAD26_HUMAN	cadherin 26	605					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E605K(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CACATGTGTGGAGCTTGCAGA	0.552																																						uc002ybe.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(1813-1815)GAG>AAG		cadherin-like 26 isoform a							117.0	98.0	104.0					20																	58571034		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58571034G>A	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1813G>A	20.37:g.58571034G>A	ENSP00000244047:p.Glu605Lys					CDH26_uc002ybf.1_Missense_Mutation_p.E185K|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_Missense_Mutation_p.E119K|CDH26_uc002ybh.2_5'Flank|CDH26_uc002ybi.2_5'Flank	p.E605K	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		12	2113	+	all_lung(29;0.00963)		605			Extracellular (Potential).		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.1813G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.91|11.91	1.780742|1.780742	0.31502|0.31502	.|.	.|.	ENSG00000124215|ENSG00000124215	ENST00000244047;ENST00000348616|ENST00000370991	T;T|.	0.60299|.	0.2;0.29|.	4.56|4.56	2.47|2.47	0.30058|0.30058	.|.	0.973228|.	0.08468|.	N|.	0.941409|.	T|.	0.39835|.	0.1093|.	L|L	0.51853|0.51853	1.615|1.615	0.09310|0.09310	N|N	1|1	B;B|.	0.28208|.	0.04;0.203|.	B;B|.	0.25506|.	0.017;0.061|.	T|.	0.25257|.	-1.0137|.	10|.	0.33940|.	T|.	0.23|.	.|.	6.3745|6.3745	0.21499|0.21499	0.1726:0.1632:0.6642:0.0|0.1726:0.1632:0.6642:0.0	.|.	605;605|.	Q8IXH8;Q8IXH8-4|.	CAD26_HUMAN;.|.	K|X	605|196	ENSP00000244047:E605K;ENSP00000339390:E605K|.	ENSP00000244047:E605K|.	E|W	+|+	1|3	0|0	CDH26|CDH26	58004429|58004429	0.002000|0.002000	0.14202|0.14202	0.003000|0.003000	0.11579|0.11579	0.004000|0.004000	0.04260|0.04260	0.425000|0.425000	0.21346|0.21346	0.982000|0.982000	0.38575|0.38575	0.655000|0.655000	0.94253|0.94253	GAG|TGG		PASS	0.552	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		4	85	4	85	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61525358	61525358	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:61525358G>A	ENST00000266070.4	-	12	3086	c.2761C>T	c.(2761-2763)Cat>Tat	p.H921Y	DIDO1_ENST00000395335.2_Missense_Mutation_p.H921Y|DIDO1_ENST00000395343.1_Missense_Mutation_p.H921Y|DIDO1_ENST00000395340.1_Missense_Mutation_p.H921Y	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	921					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.H921Y(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACATTTGGATGAGAAGCACTT	0.607																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(2761-2763)CAT>TAT		death inducer-obliterator 1 isoform c							93.0	86.0	89.0					20																	61525358		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61525358G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2761C>T	20.37:g.61525358G>A	ENSP00000266070:p.His921Tyr					DIDO1_uc002yds.1_Missense_Mutation_p.H921Y|DIDO1_uc002ydt.1_Missense_Mutation_p.H921Y|DIDO1_uc002ydu.1_Missense_Mutation_p.H921Y	p.H921Y	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			12	3025	-	Breast(26;5.68e-08)		921					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.2761C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430340	0.25726	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.11712	3.12;3.12;2.75;2.75	5.6	-1.38	0.09027	.	1.188530	0.06333	N	0.706480	T	0.07503	0.0189	L	0.57536	1.79	0.09310	N	1	B;P	0.41450	0.003;0.75	B;B	0.31390	0.002;0.129	T	0.35375	-0.9791	10	0.11794	T	0.64	0.5734	2.8478	0.05549	0.1896:0.2162:0.4769:0.1173	.	921;921	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	Y	921	ENSP00000266070:H921Y;ENSP00000378752:H921Y;ENSP00000378749:H921Y;ENSP00000378744:H921Y	ENSP00000266070:H921Y	H	-	1	0	DIDO1	60995803	0.013000	0.17824	0.000000	0.03702	0.008000	0.06430	1.122000	0.31295	-0.503000	0.06586	-0.150000	0.13652	CAT		PASS	0.607	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		5	130	5	130	---	---	---	---
BIRC7	79444	broad.mit.edu	37	20	61870880	61870880	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:61870880G>A	ENST00000217169.3	+	6	1034	c.820G>A	c.(820-822)Gag>Aag	p.E274K	NKAIN4_ENST00000466885.1_5'Flank|BIRC7_ENST00000395306.1_Missense_Mutation_p.E169K|BIRC7_ENST00000342412.6_Missense_Mutation_p.E256K|MIR3196_ENST00000579556.1_RNA	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	274					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E274K(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					GGTCTGTGCTGAGTGTGCCCC	0.706																																						uc002yej.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|kidney(1)	3						c.(820-822)GAG>AAG		livin inhibitor of apoptosis isoform alpha							69.0	56.0	61.0					20																	61870880		2203	4299	6502	SO:0001583	missense	79444				activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding	g.chr20:61870880G>A	AF301009	CCDS13512.1, CCDS13513.1	20q13.3	2011-01-25	2011-01-25		ENSG00000101197	ENSG00000101197		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	13702	protein-coding gene	gene with protein product	"""melanoma inhibitor of apoptosis protein"", ""kidney inhibitor of apoptosis protein"", ""livin inhibitor-of-apoptosis"", ""livin"""	605737	"""baculoviral IAP repeat-containing 7"""			11024045, 11162435	Standard	NM_139317		Approved	mliap, ML-IAP, KIAP, RNF50	uc002yej.3	Q96CA5	OTTHUMG00000032957	ENST00000217169.3:c.820G>A	20.37:g.61870880G>A	ENSP00000217169:p.Glu274Lys					BIRC7_uc010gkc.1_3'UTR|BIRC7_uc002yei.2_Missense_Mutation_p.E256K	p.E274K	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN			6	993	+	all_cancers(38;2.72e-09)		274			RING-type.		Q9BQV0|Q9H2A8|Q9HAP7	Missense_Mutation	SNP	ENST00000217169.3	37	c.820G>A	CCDS13513.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511769	0.44660	.	.	ENSG00000101197	ENST00000342412;ENST00000217169;ENST00000395306	T;T;T	0.78481	-1.18;-1.18;-1.18	5.06	1.9	0.25705	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);	0.596788	0.13958	N	0.351074	T	0.68247	0.2980	N	0.12502	0.225	0.45046	D	0.99806	D;P	0.56521	0.976;0.51	P;B	0.55749	0.783;0.295	T	0.57213	-0.7850	10	0.13108	T	0.6	.	9.7689	0.40578	0.0752:0.2858:0.639:0.0	.	274;256	Q96CA5;Q96CA5-2	BIRC7_HUMAN;.	K	256;274;169	ENSP00000345213:E256K;ENSP00000217169:E274K;ENSP00000378717:E169K	ENSP00000217169:E274K	E	+	1	0	BIRC7	61341325	0.988000	0.35896	0.002000	0.10522	0.001000	0.01503	3.295000	0.51794	0.125000	0.18397	-0.216000	0.12614	GAG		PASS	0.706	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	NM_139317		8	49	8	49	---	---	---	---
MYT1	4661	broad.mit.edu	37	20	62871199	62871199	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr20:62871199G>A	ENST00000328439.1	+	22	3544	c.3180G>A	c.(3178-3180)ctG>ctA	p.L1060L	MYT1_ENST00000536311.1_Silent_p.L1087L	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L1060L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTCTGGAGCTGTCCGGCCTGA	0.587																																					GBM(59;481 1041 20555 21139 33705)	uc002yii.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(3178-3180)CTG>CTA		myelin transcription factor 1							117.0	117.0	117.0					20																	62871199		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62871199G>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.3180G>A	20.37:g.62871199G>A						MYT1_uc002yij.2_Silent_p.L719L|MYT1_uc002yik.2_Silent_p.L26L	p.L1060L	NM_004535	NP_004526	Q01538	MYT1_HUMAN			22	3544	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		1060					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.3180G>A	CCDS13558.1																																																																																				PASS	0.587	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		11	191	11	191	---	---	---	---
RBM11	54033	broad.mit.edu	37	21	15599481	15599481	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr21:15599481A>G	ENST00000400577.3	+	5	722	c.713A>G	c.(712-714)gAc>gGc	p.D238G	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	238					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)	p.D238G(1)		endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CAACCAAGTGACTCTGACCTT	0.428																																						uc002yjo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(712-714)GAC>GGC		RNA binding motif protein 11							218.0	209.0	212.0					21																	15599481		1938	4145	6083	SO:0001583	missense	54033						nucleotide binding|RNA binding	g.chr21:15599481A>G	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.713A>G	21.37:g.15599481A>G	ENSP00000383421:p.Asp238Gly					RBM11_uc002yjn.3_Missense_Mutation_p.D124G|RBM11_uc002yjp.3_Missense_Mutation_p.D124G	p.D238G	NM_144770	NP_658983	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	5	755	+			238					Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	c.713A>G	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	A	19.41	3.822980	0.71028	.	.	ENSG00000185272	ENST00000400577	T	0.12147	2.71	4.99	4.99	0.66335	.	.	.	.	.	T	0.32496	0.0831	M	0.62723	1.935	0.27627	N	0.948163	D	0.89917	1.0	D	0.83275	0.996	T	0.10497	-1.0627	9	0.22109	T	0.4	-26.7159	13.268	0.60146	1.0:0.0:0.0:0.0	.	238	P57052	RBM11_HUMAN	G	238	ENSP00000383421:D238G	ENSP00000383421:D238G	D	+	2	0	RBM11	14521352	0.975000	0.34042	0.834000	0.33040	0.910000	0.53928	3.508000	0.53378	2.179000	0.69175	0.528000	0.53228	GAC		PASS	0.428	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		80	335	80	335	---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19651328	19651328	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr21:19651328G>T	ENST00000284885.3	-	23	2750	c.2717C>A	c.(2716-2718)cCa>cAa	p.P906Q		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	906	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.P906Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATTTCTTCCTGGAGGAAAAAC	0.323																																						uc002ykw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(2716-2718)CCA>CAA		enterokinase precursor							43.0	46.0	45.0					21																	19651328		2203	4298	6501	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19651328G>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2717C>A	21.37:g.19651328G>T	ENSP00000284885:p.Pro906Gln						p.P906Q	NM_002772	NP_002763	P98073	ENTK_HUMAN			23	2748	-			906			Extracellular (Potential).|Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2717C>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954285	0.34471	.	.	ENSG00000154646	ENST00000284885	D	0.88975	-2.45	5.76	5.76	0.90799	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.219651	0.39615	N	0.001305	D	0.85669	0.5750	N	0.26130	0.795	0.23704	N	0.997063	P	0.39862	0.692	P	0.47075	0.536	T	0.78051	-0.2355	9	.	.	.	.	12.2911	0.54819	0.0766:0.0:0.9234:0.0	.	906	P98073	ENTK_HUMAN	Q	906	ENSP00000284885:P906Q	.	P	-	2	0	TMPRSS15	18573199	0.999000	0.42202	0.775000	0.31657	0.005000	0.04900	3.050000	0.49877	2.718000	0.92993	0.650000	0.86243	CCA		PASS	0.323	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		8	88	8	88	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22849633	22849633	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr21:22849633C>G	ENST00000400546.1	+	15	2167	c.1918C>G	c.(1918-1920)Cta>Gta	p.L640V	NCAM2_ENST00000284894.7_Missense_Mutation_p.L498V	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	640	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L640V(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGACCAATGGCTAGAGAAAAA	0.353																																						uc002yld.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1918-1920)CTA>GTA		neural cell adhesion molecule 2 precursor							89.0	85.0	86.0					21																	22849633		1838	4096	5934	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22849633C>G		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1918C>G	21.37:g.22849633C>G	ENSP00000383392:p.Leu640Val					NCAM2_uc011acb.1_Missense_Mutation_p.L498V	p.L640V	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	15	2167	+		Lung NSC(9;0.195)	640			Fibronectin type-III 2.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.1918C>G	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153289	0.38021	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.56275	0.47;0.47	5.8	5.8	0.92144	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.053400	0.85682	D	0.000000	T	0.40094	0.1103	N	0.22421	0.69	0.80722	D	1	B;B	0.17667	0.023;0.023	B;B	0.19148	0.024;0.024	T	0.26189	-1.0110	10	0.10377	T	0.69	-15.5754	18.6224	0.91326	0.0:1.0:0.0:0.0	.	498;640	B7Z5K2;O15394	.;NCAM2_HUMAN	V	640;498	ENSP00000383392:L640V;ENSP00000284894:L498V	ENSP00000284894:L498V	L	+	1	2	NCAM2	21771504	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.394000	0.52551	2.741000	0.93983	0.650000	0.86243	CTA		PASS	0.353	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		14	55	14	55	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22849675	22849675	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr21:22849675G>T	ENST00000400546.1	+	15	2209	c.1960G>T	c.(1960-1962)Gag>Tag	p.E654*	NCAM2_ENST00000284894.7_Nonsense_Mutation_p.E512*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	654	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E654*(3)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CATCATTTTGGAGCATCTCCA	0.388																																						uc002yld.1																			3	Substitution - Nonsense(3)		lung(3)	ovary(4)	4						c.(1960-1962)GAG>TAG		neural cell adhesion molecule 2 precursor							108.0	102.0	104.0					21																	22849675		1866	4117	5983	SO:0001587	stop_gained	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22849675G>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1960G>T	21.37:g.22849675G>T	ENSP00000383392:p.Glu654*					NCAM2_uc011acb.1_Nonsense_Mutation_p.E512*	p.E654*	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	15	2209	+		Lung NSC(9;0.195)	654			Fibronectin type-III 2.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Nonsense_Mutation	SNP	ENST00000400546.1	37	c.1960G>T	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	41	9.011993	0.99035	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	.	.	.	5.8	5.8	0.92144	.	0.095487	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.1193	18.6224	0.91326	0.0:0.0:1.0:0.0	.	.	.	.	X	654;512	.	ENSP00000284894:E512X	E	+	1	0	NCAM2	21771546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.438000	0.73426	2.741000	0.93983	0.650000	0.86243	GAG		PASS	0.388	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		14	84	14	84	---	---	---	---
GRIK1	2897	broad.mit.edu	37	21	31023509	31023509	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr21:31023509C>G	ENST00000399907.1	-	6	1294	c.883G>C	c.(883-885)Gag>Cag	p.E295Q	GRIK1_ENST00000327783.4_Missense_Mutation_p.E295Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.E295Q|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389125.3_Missense_Mutation_p.E295Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.E295Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.E295Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.E295Q|GRIK1_ENST00000399914.1_Missense_Mutation_p.E295Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.E295Q	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	295					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.E295Q(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GACCACTTCTCAATGATGGAT	0.473																																						uc002yno.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(883-885)GAG>CAG		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						85.0	73.0	77.0					21																	31023509		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31023509C>G		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.883G>C	21.37:g.31023509C>G	ENSP00000382791:p.Glu295Gln					GRIK1_uc002ynn.2_Missense_Mutation_p.E295Q|GRIK1_uc011acs.1_Missense_Mutation_p.E295Q|GRIK1_uc011act.1_Missense_Mutation_p.E239Q|GRIK1_uc010glq.1_Missense_Mutation_p.E153Q|GRIK1_uc002ynr.2_Missense_Mutation_p.E295Q	p.E295Q	NM_000830	NP_000821	P39086	GRIK1_HUMAN			6	1347	-			295			Extracellular (Potential).		Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.883G>C	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193503	0.58017	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.11	5.11	0.69529	Extracellular ligand-binding receptor (1);	0.096756	0.64402	D	0.000001	T	0.72653	0.3487	N	0.25144	0.715	0.58432	D	0.999999	B;B;B;B;B;B	0.14805	0.002;0.001;0.011;0.001;0.004;0.002	B;B;B;B;B;B	0.13407	0.009;0.009;0.004;0.009;0.009;0.005	T	0.66701	-0.5857	10	0.09084	T	0.74	.	18.6736	0.91521	0.0:1.0:0.0:0.0	.	295;295;295;295;295;295	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	Q	295;295;295;295;295;239;295;295;295;295	ENSP00000327687:E295Q;ENSP00000373777:E295Q;ENSP00000382797:E295Q;ENSP00000382798:E295Q;ENSP00000446326:E295Q;ENSP00000373776:E295Q;ENSP00000382791:E295Q;ENSP00000382793:E295Q;ENSP00000311646:E295Q	ENSP00000311646:E295Q	E	-	1	0	GRIK1	29945380	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.474000	0.66781	2.798000	0.96311	0.655000	0.94253	GAG		PASS	0.473	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			18	88	18	88	---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32526612	32526612	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr21:32526612G>A	ENST00000286827.3	-	18	3595	c.3124C>T	c.(3124-3126)Cgc>Tgc	p.R1042C	TIAM1_ENST00000541036.1_Missense_Mutation_p.R982C	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1042	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1042C(2)|p.R1042S(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATCACCTTGCGCAGCTTATCT	0.567																																						uc002yow.1																			4	Substitution - Missense(4)		lung(4)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(3124-3126)CGC>TGC		T-cell lymphoma invasion and metastasis 1							93.0	86.0	88.0					21																	32526612		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32526612G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3124C>T	21.37:g.32526612G>A	ENSP00000286827:p.Arg1042Cys					TIAM1_uc011adk.1_Missense_Mutation_p.R1042C|TIAM1_uc011adl.1_Missense_Mutation_p.R982C	p.R1042C	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			18	3596	-			1042			DH.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.3124C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080745	0.94050	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.69561	-0.41;-0.41	6.17	6.17	0.99709	Dbl homology (DH) domain (3);	0.000000	0.85682	D	0.000000	D	0.84529	0.5492	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86047	0.1523	10	0.87932	D	0	.	17.0623	0.86550	0.0:0.0:0.8725:0.1275	.	982;982;1042	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	C	1042;883;982	ENSP00000286827:R1042C;ENSP00000441570:R982C	ENSP00000286827:R1042C	R	-	1	0	TIAM1	31448483	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.725000	0.84808	2.941000	0.99782	0.655000	0.94253	CGC		PASS	0.567	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		11	132	11	132	---	---	---	---
MIS18A	54069	broad.mit.edu	37	21	33642731	33642731	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr21:33642731C>T	ENST00000290130.3	-	3	565	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	MIS18A_ENST00000486363.1_5'UTR	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	171					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E171K(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						TCAATGGCTTCAACACTGAGG	0.413																																						uc002ypi.2																			2	Substitution - Missense(2)		lung(1)|breast(1)		0						c.(511-513)GAA>AAA		chromosome 21 open reading frame 45							85.0	77.0	80.0					21																	33642731		2203	4300	6503	SO:0001583	missense	54069				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm		g.chr21:33642731C>T	AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 46"", ""chromosome 21 open reading frame 45"", ""MIS18 kinetochore protein homolog A (S. pombe)"""	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.511G>A	21.37:g.33642731C>T	ENSP00000290130:p.Glu171Lys					C21orf45_uc011adn.1_Missense_Mutation_p.E171K	p.E171K	NM_018944	NP_061817	Q9NYP9	MS18A_HUMAN			3	562	-			171					B2R562|Q542Z0	Missense_Mutation	SNP	ENST00000290130.3	37	c.511G>A	CCDS13611.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115115	0.37339	.	.	ENSG00000159055	ENST00000290130	.	.	.	5.67	2.39	0.29439	.	0.358821	0.29246	N	0.012705	T	0.23410	0.0566	L	0.45581	1.43	0.09310	N	0.999999	P	0.38504	0.634	B	0.32805	0.153	T	0.09443	-1.0674	9	0.27785	T	0.31	-6.6112	5.5214	0.16936	0.1671:0.6333:0.0:0.1995	.	171	Q9NYP9	MS18A_HUMAN	K	171	.	ENSP00000290130:E171K	E	-	1	0	MIS18A	32564602	0.005000	0.15991	0.872000	0.34217	0.924000	0.55760	0.700000	0.25601	0.675000	0.31264	-0.378000	0.06908	GAA		PASS	0.413	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1	NM_018944		18	95	18	95	---	---	---	---
DOPEY2	9980	broad.mit.edu	37	21	37610966	37610966	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr21:37610966G>T	ENST00000399151.3	+	17	2928	c.2843G>T	c.(2842-2844)aGt>aTt	p.S948I		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	948					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.S948I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ATCCAAGGCAGTCGAGTAACA	0.493																																						uc002yvg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2842-2844)AGT>ATT		pad-1-like							138.0	122.0	127.0					21																	37610966		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37610966G>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2843G>T	21.37:g.37610966G>T	ENSP00000382104:p.Ser948Ile					DOPEY2_uc011aeb.1_Missense_Mutation_p.S897I	p.S948I	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			17	2922	+			948					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.2843G>T	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721964	0.68959	.	.	ENSG00000142197	ENST00000399151	T	0.13778	2.56	5.49	3.35	0.38373	.	0.305164	0.44483	D	0.000459	T	0.29355	0.0731	L	0.59436	1.845	0.42091	D	0.991296	D;D	0.63880	0.993;0.987	D;P	0.63703	0.917;0.828	T	0.03673	-1.1014	10	0.51188	T	0.08	-9.9467	13.0684	0.59046	0.1522:0.0:0.8478:0.0	.	948;948	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	I	948	ENSP00000382104:S948I	ENSP00000382104:S948I	S	+	2	0	DOPEY2	36532836	0.998000	0.40836	0.919000	0.36401	0.928000	0.56348	1.644000	0.37228	1.328000	0.45358	-0.258000	0.10820	AGT		PASS	0.493	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		21	53	21	53	---	---	---	---
KCNJ15	3772	broad.mit.edu	37	21	39671705	39671705	+	Silent	SNP	G	G	C	rs200853224	byFrequency	TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr21:39671705G>C	ENST00000328656.4	+	4	825	c.522G>C	c.(520-522)cgG>cgC	p.R174R	KCNJ15_ENST00000398930.1_Silent_p.R174R|KCNJ15_ENST00000398932.1_Silent_p.R174R|KCNJ15_ENST00000398934.1_Silent_p.R174R|KCNJ15_ENST00000398938.2_Silent_p.R174R	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	174					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.R174R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	CCAAAAAGCGGGCTGAGACCA	0.502																																						uc002ywv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						c.(520-522)CGG>CGC		potassium inwardly-rectifying channel J15							63.0	60.0	61.0					21																	39671705		2203	4300	6503	SO:0001819	synonymous_variant	3772				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	g.chr21:39671705G>C	Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.522G>C	21.37:g.39671705G>C						KCNJ15_uc002yww.2_Silent_p.R174R|KCNJ15_uc002ywx.2_Silent_p.R174R	p.R174R	NM_002243	NP_002234	Q99712	IRK15_HUMAN			4	824	+			174			Cytoplasmic (By similarity).		D3DSH5|O00564|Q96L28|Q99446	Silent	SNP	ENST00000328656.4	37	c.522G>C	CCDS13656.1																																																																																				PASS	0.502	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		30	75	30	75	---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40559097	40559097	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr21:40559097G>C	ENST00000333229.2	-	42	7145	c.6818C>G	c.(6817-6819)tCt>tGt	p.S2273C	AF129408.17_ENST00000608767.1_RNA	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2273					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S2273Y(1)|p.S2273C(1)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGCCGCAGCAGAAGCATTTCG	0.323																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(3)|ovary(1)	4						c.(6817-6819)TCT>TGT		bromodomain and WD repeat domain containing 1							74.0	77.0	76.0					21																	40559097		2201	4297	6498	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40559097G>C	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6818C>G	21.37:g.40559097G>C	ENSP00000330753:p.Ser2273Cys					BRWD1_uc010goc.1_Missense_Mutation_p.S916C	p.S2273C	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			42	6957	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	2273					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.6818C>G	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795007	0.70452	.	.	ENSG00000185658	ENST00000333229	T	0.60171	0.21	5.12	5.12	0.69794	.	0.121502	0.37348	N	0.002123	T	0.55737	0.1939	L	0.33189	0.99	0.80722	D	1	D	0.52996	0.957	P	0.47786	0.557	T	0.61461	-0.7058	10	0.72032	D	0.01	-8.6834	17.1329	0.86730	0.0:0.0:1.0:0.0	.	2273	Q9NSI6	BRWD1_HUMAN	C	2273	ENSP00000330753:S2273C	ENSP00000330753:S2273C	S	-	2	0	BRWD1	39480967	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	3.336000	0.52113	2.542000	0.85734	0.650000	0.86243	TCT		PASS	0.323	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		37	147	37	147	---	---	---	---
IGSF5	150084	broad.mit.edu	37	21	41142978	41142978	+	Nonsense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr21:41142978C>G	ENST00000380588.4	+	4	657	c.554C>G	c.(553-555)tCa>tGa	p.S185*	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	185	Ig-like V-type 2.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.S185*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GTCAGCCATTCAAGCTATTAT	0.537																																						uc002yyo.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(553-555)TCA>TGA		immunoglobulin superfamily 5 like							74.0	71.0	72.0					21																	41142978		2203	4300	6503	SO:0001587	stop_gained	150084					integral to membrane|tight junction		g.chr21:41142978C>G		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.554C>G	21.37:g.41142978C>G	ENSP00000369962:p.Ser185*						p.S185*	NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN			4	657	+		Prostate(19;5.35e-06)	185			Ig-like V-type 2.|Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000380588.4	37	c.554C>G	CCDS33562.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358849	0.82353	.	.	ENSG00000183067	ENST00000380588	.	.	.	5.11	2.23	0.28157	.	0.711508	0.14029	N	0.346264	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-5.4225	8.8258	0.35054	0.0:0.6383:0.2842:0.0775	.	.	.	.	X	185	.	ENSP00000369962:S185X	S	+	2	0	IGSF5	40064848	0.016000	0.18221	0.001000	0.08648	0.078000	0.17371	0.839000	0.27586	0.358000	0.24211	0.650000	0.86243	TCA		PASS	0.537	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			16	95	16	95	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41385099	41385099	+	Silent	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr21:41385099G>T	ENST00000400454.1	-	33	6378	c.5901C>A	c.(5899-5901)gcC>gcA	p.A1967A		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1967				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A1967A(3)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATGTGGCCACGGCCCCCGGCT	0.652																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			3	Substitution - coding silent(3)		lung(1)|kidney(1)|endometrium(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(5899-5901)GCC>GCA		Down syndrome cell adhesion molecule isoform							27.0	29.0	28.0					21																	41385099		1931	4140	6071	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41385099G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5901C>A	21.37:g.41385099G>T						DSCAM_uc002yyr.1_RNA	p.A1967A	NM_001389	NP_001380	O60469	DSCAM_HUMAN			33	6353	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1967	HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).		Cytoplasmic (Potential).		O60468	Silent	SNP	ENST00000400454.1	37	c.5901C>A	CCDS42929.1																																																																																				PASS	0.652	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		3	23	3	23	---	---	---	---
PDE9A	5152	broad.mit.edu	37	21	44179162	44179162	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr21:44179162C>T	ENST00000291539.6	+	11	924	c.864C>T	c.(862-864)ttC>ttT	p.F288F	PDE9A_ENST00000539837.1_Silent_p.F160F|PDE9A_ENST00000335512.4_Silent_p.F228F|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Silent_p.F161F|PDE9A_ENST00000328862.6_Silent_p.F262F|PDE9A_ENST00000398227.3_Silent_p.F128F|PDE9A_ENST00000398225.3_Silent_p.F247F|PDE9A_ENST00000398236.3_Silent_p.F202F|PDE9A_ENST00000398229.3_Silent_p.F154F|PDE9A_ENST00000398234.3_Silent_p.F187F|PDE9A_ENST00000398232.3_Silent_p.F221F|PDE9A_ENST00000380328.2_Silent_p.F235F|PDE9A_ENST00000335440.6_Silent_p.F186F|PDE9A_ENST00000349112.3_Silent_p.F160F	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	288	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)	p.F288F(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	TCAGGGACTTCAGCATCAACC	0.602																																						uc002zbm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(862-864)TTC>TTT		phosphodiesterase 9A isoform a							99.0	75.0	83.0					21																	44179162		2203	4300	6503	SO:0001819	synonymous_variant	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44179162C>T	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.864C>T	21.37:g.44179162C>T						PDE9A_uc002zbn.2_Silent_p.F161F|PDE9A_uc002zbo.2_Silent_p.F235F|PDE9A_uc002zbp.2_Silent_p.F81F|PDE9A_uc002zbq.2_Silent_p.F186F|PDE9A_uc002zbs.2_Silent_p.F81F|PDE9A_uc002zbr.2_Silent_p.F81F|PDE9A_uc002zbt.2_Silent_p.F160F|PDE9A_uc002zbu.2_Silent_p.F154F|PDE9A_uc002zbv.2_Silent_p.F128F|PDE9A_uc002zbw.2_Silent_p.F71F|PDE9A_uc002zbx.2_Silent_p.F228F|PDE9A_uc002zby.2_Silent_p.F71F|PDE9A_uc002zbz.2_Silent_p.F180F|PDE9A_uc002zca.2_Silent_p.F247F|PDE9A_uc002zcb.2_Silent_p.F262F|PDE9A_uc002zcc.2_Silent_p.F187F|PDE9A_uc002zcd.2_Silent_p.F202F|PDE9A_uc002zce.2_Silent_p.F221F|PDE9A_uc002zcf.2_Silent_p.F81F|PDE9A_uc002zcg.2_Silent_p.F81F|PDE9A_uc002zch.2_Silent_p.F71F|PDE9A_uc010gpf.1_Silent_p.F81F	p.F288F	NM_002606	NP_002597	O76083	PDE9A_HUMAN			11	927	+			288			Catalytic (By similarity).		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Silent	SNP	ENST00000291539.6	37	c.864C>T	CCDS13690.1																																																																																				PASS	0.602	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			4	56	4	56	---	---	---	---
PKNOX1	5316	broad.mit.edu	37	21	44448912	44448912	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr21:44448912C>G	ENST00000291547.5	+	10	1238	c.1027C>G	c.(1027-1029)Cag>Gag	p.Q343E	PKNOX1_ENST00000432907.2_Missense_Mutation_p.Q226E|PKNOX1_ENST00000607150.1_3'UTR	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	343					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q343E(1)		cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CCGGCCAGTTCAGAGGTTTTG	0.512																																						uc002zcq.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(1027-1029)CAG>GAG		PBX/knotted 1 homeobox 1							88.0	98.0	94.0					21																	44448912		2203	4300	6503	SO:0001583	missense	5316						sequence-specific DNA binding	g.chr21:44448912C>G		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.1027C>G	21.37:g.44448912C>G	ENSP00000291547:p.Gln343Glu					PKNOX1_uc002zcp.1_Missense_Mutation_p.Q343E|PKNOX1_uc011aex.1_Missense_Mutation_p.Q226E	p.Q343E	NM_004571	NP_004562	P55347	PKNX1_HUMAN			10	1215	+			343					O00528|Q8IWT7	Missense_Mutation	SNP	ENST00000291547.5	37	c.1027C>G	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012834	0.54468	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	D;D	0.86562	-1.87;-2.14	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.82508	0.5052	L	0.39245	1.2	0.80722	D	1	B;P	0.42871	0.205;0.792	B;B	0.40864	0.022;0.342	T	0.79633	-0.1722	10	0.07644	T	0.81	-22.233	19.5223	0.95190	0.0:1.0:0.0:0.0	.	343;343	P55347;P55347-2	PKNX1_HUMAN;.	E	343;226	ENSP00000291547:Q343E;ENSP00000402243:Q226E	ENSP00000291547:Q343E	Q	+	1	0	PKNOX1	43321981	1.000000	0.71417	0.963000	0.40424	0.792000	0.44763	6.992000	0.76238	2.691000	0.91804	0.655000	0.94253	CAG		PASS	0.512	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			67	221	67	221	---	---	---	---
PKNOX1	5316	broad.mit.edu	37	21	44450169	44450169	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr21:44450169C>G	ENST00000291547.5	+	11	1480	c.1269C>G	c.(1267-1269)caC>caG	p.H423Q	PKNOX1_ENST00000432907.2_Missense_Mutation_p.H306Q	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	423					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H423Q(1)		cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CCCCTGCCCACATCAGCGGGC	0.607																																						uc002zcq.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(1267-1269)CAC>CAG		PBX/knotted 1 homeobox 1							50.0	47.0	48.0					21																	44450169		2203	4300	6503	SO:0001583	missense	5316						sequence-specific DNA binding	g.chr21:44450169C>G		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.1269C>G	21.37:g.44450169C>G	ENSP00000291547:p.His423Gln					PKNOX1_uc011aex.1_Missense_Mutation_p.H306Q	p.H423Q	NM_004571	NP_004562	P55347	PKNX1_HUMAN			11	1457	+			423					O00528|Q8IWT7	Missense_Mutation	SNP	ENST00000291547.5	37	c.1269C>G	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.269897	0.23221	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	D;D	0.85484	-1.73;-1.99	5.43	4.35	0.52113	.	0.098370	0.64402	D	0.000001	T	0.75019	0.3793	N	0.22421	0.69	0.43919	D	0.996569	B	0.14438	0.01	B	0.13407	0.009	T	0.72469	-0.4284	10	0.59425	D	0.04	-26.5432	10.5703	0.45196	0.0:0.8607:0.0:0.1393	.	423	P55347	PKNX1_HUMAN	Q	423;306	ENSP00000291547:H423Q;ENSP00000402243:H306Q	ENSP00000291547:H423Q	H	+	3	2	PKNOX1	43323238	1.000000	0.71417	0.970000	0.41538	0.110000	0.19582	1.316000	0.33620	2.547000	0.85894	0.591000	0.81541	CAC		PASS	0.607	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			18	53	18	53	---	---	---	---
CBS	875	broad.mit.edu	37	21	44483143	44483143	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr21:44483143C>T	ENST00000398165.3	-	10	1133	c.874G>A	c.(874-876)Gag>Aag	p.E292K	CBS_ENST00000352178.5_Missense_Mutation_p.E292K|CBS_ENST00000359624.3_Missense_Mutation_p.E292K|CBS_ENST00000544202.1_Missense_Mutation_p.E204K|CBS_ENST00000398158.1_Missense_Mutation_p.E292K|CBS_ENST00000398168.1_Missense_Mutation_p.E292K	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	292					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)	p.E292K(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	TGGTTCAGCTCCTCCGGCTCT	0.632																																						uc002zcu.2																			2	Substitution - Missense(2)		lung(2)		0						c.(874-876)GAG>AAG		cystathionine-beta-synthase	L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)						136.0	112.0	120.0					21																	44483143		2203	4300	6503	SO:0001583	missense	875				cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	g.chr21:44483143C>T	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.874G>A	21.37:g.44483143C>T	ENSP00000381231:p.Glu292Lys					CBS_uc002zcs.1_Missense_Mutation_p.E187K|CBS_uc002zct.2_Missense_Mutation_p.E292K|CBS_uc002zcw.3_Missense_Mutation_p.E292K|CBS_uc002zcv.2_Missense_Mutation_p.E292K|CBS_uc002zcx.2_5'Flank	p.E292K	NM_000071	NP_000062	P35520	CBS_HUMAN			10	1119	-			292					B2R993|D3DSK4|Q99425|Q9BWC5	Missense_Mutation	SNP	ENST00000398165.3	37	c.874G>A	CCDS13693.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157836	0.38119	.	.	ENSG00000160200	ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000539520;ENST00000544202	D;D;D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09;-4.09;-4.09	4.67	4.67	0.58626	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.110493	0.64402	D	0.000011	D	0.94847	0.8335	M	0.61703	1.905	0.53005	D	0.999962	B;B	0.18968	0.012;0.032	B;B	0.20767	0.008;0.031	D	0.93038	0.6454	10	0.42905	T	0.14	-48.4369	15.3693	0.74551	0.0:1.0:0.0:0.0	.	292;249	P35520;B7Z2D6	CBS_HUMAN;.	K	292;292;292;292;292;249;204	ENSP00000381225:E292K;ENSP00000381231:E292K;ENSP00000352643:E292K;ENSP00000344460:E292K;ENSP00000381234:E292K;ENSP00000439332:E204K	ENSP00000344460:E292K	E	-	1	0	CBS	43356212	1.000000	0.71417	0.989000	0.46669	0.123000	0.20343	3.694000	0.54742	2.141000	0.66446	0.591000	0.81541	GAG		PASS	0.632	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	NM_000071		34	123	34	123	---	---	---	---
CBS	875	broad.mit.edu	37	21	44483170	44483170	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr21:44483170C>T	ENST00000398165.3	-	10	1106	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	CBS_ENST00000352178.5_Missense_Mutation_p.E283K|CBS_ENST00000359624.3_Missense_Mutation_p.E283K|CBS_ENST00000544202.1_Missense_Mutation_p.E195K|CBS_ENST00000398158.1_Missense_Mutation_p.E283K|CBS_ENST00000398168.1_Missense_Mutation_p.E283K	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	283					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)	p.E283K(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	ATGGACCCTTCGGGATCCACC	0.607																																						uc002zcu.2																			2	Substitution - Missense(2)		lung(2)		0						c.(847-849)GAA>AAA		cystathionine-beta-synthase	L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)						98.0	83.0	88.0					21																	44483170		2203	4300	6503	SO:0001583	missense	875				cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	g.chr21:44483170C>T	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.847G>A	21.37:g.44483170C>T	ENSP00000381231:p.Glu283Lys					CBS_uc002zcs.1_Missense_Mutation_p.E178K|CBS_uc002zct.2_Missense_Mutation_p.E283K|CBS_uc002zcw.3_Missense_Mutation_p.E283K|CBS_uc002zcv.2_Missense_Mutation_p.E283K|CBS_uc002zcx.2_5'Flank	p.E283K	NM_000071	NP_000062	P35520	CBS_HUMAN			10	1092	-			283					B2R993|D3DSK4|Q99425|Q9BWC5	Missense_Mutation	SNP	ENST00000398165.3	37	c.847G>A	CCDS13693.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539686	0.27563	.	.	ENSG00000160200	ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000539520;ENST00000544202	D;D;D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27;-4.27;-4.27	4.67	4.67	0.58626	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.107189	0.64402	D	0.000007	D	0.93080	0.7797	N	0.25094	0.71	0.47094	D	0.999313	B;B	0.20459	0.045;0.045	B;B	0.17979	0.02;0.02	D	0.90327	0.4349	10	0.25106	T	0.35	-18.1995	15.3693	0.74551	0.0:1.0:0.0:0.0	.	283;240	P35520;B7Z2D6	CBS_HUMAN;.	K	283;283;283;283;283;240;195	ENSP00000381225:E283K;ENSP00000381231:E283K;ENSP00000352643:E283K;ENSP00000344460:E283K;ENSP00000381234:E283K;ENSP00000439332:E195K	ENSP00000344460:E283K	E	-	1	0	CBS	43356239	0.998000	0.40836	0.065000	0.19835	0.040000	0.13550	5.000000	0.63940	2.141000	0.66446	0.591000	0.81541	GAA		PASS	0.607	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	NM_000071		33	106	33	106	---	---	---	---
TRPM2	7226	broad.mit.edu	37	21	45811239	45811239	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr21:45811239C>T	ENST00000397928.1	+	11	1970	c.1525C>T	c.(1525-1527)Cag>Tag	p.Q509*	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Nonsense_Mutation_p.Q509*|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.Q509*|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.Q509*	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	509					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.Q509*(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GAACGGGGTGCAGCTGAAGGA	0.557																																						uc002zet.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1525-1527)CAG>TAG		transient receptor potential cation channel,							148.0	109.0	122.0					21																	45811239		2203	4300	6503	SO:0001587	stop_gained	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45811239C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1525C>T	21.37:g.45811239C>T	ENSP00000381023:p.Gln509*					TRPM2_uc002zeu.1_Nonsense_Mutation_p.Q509*|TRPM2_uc002zew.1_Nonsense_Mutation_p.Q509*|TRPM2_uc010gpt.1_Nonsense_Mutation_p.Q509*|TRPM2_uc002zex.1_Nonsense_Mutation_p.Q295*|TRPM2_uc002zey.1_Nonsense_Mutation_p.Q22*	p.Q509*	NM_003307	NP_003298	O94759	TRPM2_HUMAN			12	1738	+			509			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Nonsense_Mutation	SNP	ENST00000397928.1	37	c.1525C>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097874	0.76870	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	.	.	.	5.09	4.19	0.49359	.	0.378148	0.30374	N	0.009762	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-10.6886	10.66	0.45696	0.149:0.7074:0.1435:0.0	.	.	.	.	X	509	.	ENSP00000300481:Q509X	Q	+	1	0	TRPM2	44635667	0.902000	0.30710	0.917000	0.36280	0.001000	0.01503	1.862000	0.39448	1.130000	0.42092	-0.165000	0.13383	CAG		PASS	0.557	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		39	153	39	153	---	---	---	---
KRTAP10-5	386680	broad.mit.edu	37	21	45999863	45999863	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr21:45999863G>T	ENST00000400372.1	-	1	618	c.593C>A	c.(592-594)tCa>tAa	p.S198*	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	198	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S198*(1)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CTGGCAGCATGAAGTGGAAGC	0.632																																						uc002zfl.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(592-594)TCA>TAA		keratin associated protein 10-5							170.0	176.0	174.0					21																	45999863		2203	4300	6503	SO:0001587	stop_gained	386680					keratin filament		g.chr21:45999863G>T	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.593C>A	21.37:g.45999863G>T	ENSP00000383223:p.Ser198*					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.S198*	NM_198694	NP_941967	P60370	KR105_HUMAN			1	619	-			198			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Nonsense_Mutation	SNP	ENST00000400372.1	37	c.593C>A	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	g	12.86	2.063902	0.36373	.	.	ENSG00000241123	ENST00000400372	.	.	.	1.89	0.563	0.17296	.	.	.	.	.	.	.	.	.	.	.	0.51482	D	0.999927	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	3.6565	0.08222	0.1839:0.4037:0.4125:0.0	.	.	.	.	X	198	.	ENSP00000383223:S198X	S	-	2	0	KRTAP10-5	44824291	0.567000	0.26626	0.005000	0.12908	0.450000	0.32258	1.145000	0.31577	-0.116000	0.11893	0.305000	0.20034	TCA		PASS	0.632	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			64	236	64	236	---	---	---	---
COL6A2	1292	broad.mit.edu	37	21	47546006	47546006	+	Silent	SNP	C	C	T	rs201571249		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr21:47546006C>T	ENST00000300527.4	+	26	2381	c.2277C>T	c.(2275-2277)atC>atT	p.I759I	COL6A2_ENST00000357838.4_Silent_p.I759I|COL6A2_ENST00000397763.1_Silent_p.I759I|COL6A2_ENST00000409416.1_Silent_p.I759I|COL6A2_ENST00000310645.5_Silent_p.I759I	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	759	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.I759I(3)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCATCGGCATCGGGGACATGT	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17684	0.0		0.0	False		,,,				2504	0.0					uc002zia.1																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(7)|ovary(1)	8						c.(2275-2277)ATC>ATT		alpha 2 type VI collagen isoform 2C2 precursor		C	,,	1,4405	2.1+/-5.4	0,1,2202	162.0	154.0	157.0		2277,2277,2277	-0.3	0.5	21		157	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	759/1020,759/919,759/829	47546006	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47546006C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2277C>T	21.37:g.47546006C>T						COL6A2_uc002zhy.1_Silent_p.I759I|COL6A2_uc002zhz.1_Silent_p.I759I|COL6A2_uc002zib.1_Silent_p.I165I|COL6A2_uc002zic.1_5'Flank	p.I759I	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	26	2359	+	Breast(49;0.245)		759			VWFA 2.|Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.2277C>T	CCDS13728.1																																																																																				PASS	0.627	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			16	260	16	260	---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47864606	47864606	+	Splice_Site	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr21:47864606G>C	ENST00000359568.5	+	46	9946		c.e46-1		PCNT_ENST00000480896.1_Splice_Site	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin						brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.?(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTTGTTTGAAGAGCCACTCCA	0.403																																						uc002zji.3																			1	Unknown(1)		lung(1)	ovary(4)|breast(2)|pancreas(2)	8						c.e46-1		pericentrin							88.0	86.0	87.0					21																	47864606		2203	4300	6503	SO:0001630	splice_region_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47864606G>C	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9840-1G>C	21.37:g.47864606G>C						PCNT_uc002zjj.2_Splice_Site_p.R3083_splice	p.R3280_splice	NM_006031	NP_006022	O95613	PCNT_HUMAN			46	9947	+	Breast(49;0.112)							O43152|Q7Z7C9	Splice_Site	SNP	ENST00000359568.5	37	c.9840_splice	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.931159	0.73327	.	.	ENSG00000160299	ENST00000359568	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3095	0.94179	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCNT	46689034	1.000000	0.71417	0.779000	0.31741	0.917000	0.54804	5.846000	0.69444	2.804000	0.96469	0.655000	0.94253	.		PASS	0.403	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031	Intron	13	110	13	110	---	---	---	---
OR11H1	81061	broad.mit.edu	37	22	16449122	16449122	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:16449122A>T	ENST00000252835.4	-	1	683	c.683T>A	c.(682-684)tTt>tAt	p.F228Y		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F228Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		TCCAATAATAAAGAGGAAGTT	0.438																																						uc011agd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(682-684)TTT>TAT		olfactory receptor, family 11, subfamily H,							71.0	71.0	71.0					22																	16449122		2201	4294	6495	SO:0001583	missense	81061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr22:16449122A>T	AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.683T>A	22.37:g.16449122A>T	ENSP00000252835:p.Phe228Tyr						p.F228Y	NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)	1	683	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)	228			Helical; Name=5; (Potential).		Q6IEX0|Q96R32	Missense_Mutation	SNP	ENST00000252835.4	37	c.683T>A	CCDS33594.1	.	.	.	.	.	.	.	.	.	.	a	0.120	-1.127400	0.01770	.	.	ENSG00000130538	ENST00000252835	T	0.38077	1.16	1.88	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000508	T	0.31104	0.0786	L	0.49778	1.585	0.09310	N	0.999999	B	0.21905	0.062	B	0.36186	0.219	T	0.30327	-0.9982	10	0.10636	T	0.68	.	7.8049	0.29195	1.0:0.0:0.0:0.0	.	228	Q8NG94	O11H1_HUMAN	Y	228	ENSP00000252835:F228Y	ENSP00000252835:F228Y	F	-	2	0	OR11H1	14829122	0.000000	0.05858	0.803000	0.32268	0.376000	0.30014	1.068000	0.30629	0.826000	0.34661	0.302000	0.19851	TTT		PASS	0.438	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074923.2	NM_001005239		31	220	31	220	---	---	---	---
CECR5	27440	broad.mit.edu	37	22	17619130	17619130	+	Silent	SNP	T	T	A	rs138657583	byFrequency	TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:17619130T>A	ENST00000336737.4	-	8	1078	c.1053A>T	c.(1051-1053)tcA>tcT	p.S351S	CECR5_ENST00000155674.5_Silent_p.S321S|CECR5_ENST00000399852.3_Silent_p.S151S	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	351						mitochondrion (GO:0005739)		p.S351S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TCTGGCTTGCTGAGGGCTGTT	0.617																																						uc002zmf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1051-1053)TCA>TCT		cat eye syndrome chromosome region, candidate 5							81.0	73.0	76.0					22																	17619130		2203	4300	6503	SO:0001819	synonymous_variant	27440						hydrolase activity	g.chr22:17619130T>A	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.1053A>T	22.37:g.17619130T>A						CECR5_uc002zmd.2_Silent_p.S162S|CECR5_uc002zme.2_Silent_p.S143S|CECR5_uc002zmg.2_Silent_p.S151S|CECR5_uc002zmh.2_Silent_p.S321S	p.S351S	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN			8	1081	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	351					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Silent	SNP	ENST00000336737.4	37	c.1053A>T	CCDS33595.1																																																																																				PASS	0.617	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		24	41	24	41	---	---	---	---
HIRA	7290	broad.mit.edu	37	22	19371184	19371184	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:19371184C>T	ENST00000263208.5	-	13	1630	c.1374G>A	c.(1372-1374)cgG>cgA	p.R458R	HIRA_ENST00000546308.1_Silent_p.R414R|HIRA_ENST00000340170.4_Silent_p.R458R|HIRA_ENST00000541063.1_Silent_p.R414R	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	458	Interaction with ASF1A.|Interaction with CCNA1.|Required for repression of histone gene transcription.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R458R(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TGATTCTTCTCCGGCCATCTG	0.448																																						uc002zpf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1372-1374)CGG>CGA		HIR histone cell cycle regulation defective							175.0	148.0	157.0					22																	19371184		2203	4300	6503	SO:0001819	synonymous_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19371184C>T	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1374G>A	22.37:g.19371184C>T						HIRA_uc011agx.1_Silent_p.R324R|HIRA_uc010grn.1_Silent_p.R458R|HIRA_uc010gro.1_Silent_p.R414R|HIRA_uc010grp.2_RNA	p.R458R	NM_003325	NP_003316	P54198	HIRA_HUMAN			13	1594	-	Colorectal(54;0.0993)		458	RRR->KKK: Impairs binding to ASF1A.|RR->AK: Impairs binding to ASF1A.|Missing: Impairs binding to ASF1A.|R->A: Impairs binding to ASF1A.|RRR->AKK: Abrogates binding to ASF1A.|R->K: Impairs binding to ASF1A; when associated with K-460.		Interaction with CCNA1.|Interaction with ASF1A.|Required for repression of histone gene transcription.		Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	c.1374G>A	CCDS13759.1																																																																																				PASS	0.448	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		6	224	6	224	---	---	---	---
HIRA	7290	broad.mit.edu	37	22	19384325	19384325	+	Silent	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:19384325G>C	ENST00000263208.5	-	7	895	c.639C>G	c.(637-639)acC>acG	p.T213T	HIRA_ENST00000546308.1_Silent_p.T169T|HIRA_ENST00000340170.4_Silent_p.T213T|HIRA_ENST00000464189.1_5'Flank|HIRA_ENST00000541063.1_Silent_p.T169T	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	213					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.T213T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CAAAAGGCTTGGTGATGCTGG	0.567																																						uc002zpf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(637-639)ACC>ACG		HIR histone cell cycle regulation defective							86.0	78.0	81.0					22																	19384325		2203	4300	6503	SO:0001819	synonymous_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19384325G>C	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.639C>G	22.37:g.19384325G>C						HIRA_uc011agx.1_Silent_p.T79T|HIRA_uc010grn.1_Silent_p.T213T|HIRA_uc010gro.1_Silent_p.T169T|HIRA_uc010grp.2_RNA	p.T213T	NM_003325	NP_003316	P54198	HIRA_HUMAN			7	859	-	Colorectal(54;0.0993)		213					Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	c.639C>G	CCDS13759.1																																																																																				PASS	0.567	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		36	81	36	81	---	---	---	---
TRMT2A	27037	broad.mit.edu	37	22	20103652	20103652	+	Missense_Mutation	SNP	C	C	A	rs200389453		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:20103652C>A	ENST00000252136.7	-	2	896	c.508G>T	c.(508-510)Gac>Tac	p.D170Y	RANBP1_ENST00000331821.3_5'Flank|TRMT2A_ENST00000492988.1_5'Flank|TRMT2A_ENST00000404751.3_Missense_Mutation_p.D170Y|RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000403707.3_Missense_Mutation_p.D170Y|RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000439169.2_Missense_Mutation_p.D170Y	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	170					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)	p.D170Y(1)		breast(2)|endometrium(2)|lung(5)	9						GTCACCACGTCGGCCACTCGT	0.642																																						uc002zrk.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(508-510)GAC>TAC		HpaII tiny fragments locus 9C							81.0	75.0	77.0					22																	20103652		2203	4300	6503	SO:0001583	missense	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20103652C>A	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.508G>T	22.37:g.20103652C>A	ENSP00000252136:p.Asp170Tyr					TRMT2A_uc002zrl.1_Missense_Mutation_p.D170Y|TRMT2A_uc002zrm.1_5'UTR|TRMT2A_uc002zrn.1_Missense_Mutation_p.D170Y|TRMT2A_uc011ahk.1_Missense_Mutation_p.D170Y|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank	p.D170Y	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN			3	723	-			170					D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	c.508G>T	CCDS13774.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.254057	0.59212	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169	T;T;T	0.55052	0.54;0.54;0.55	5.34	5.34	0.76211	.	0.046630	0.85682	D	0.000000	T	0.75568	0.3867	M	0.84219	2.685	0.80722	D	1	D;P;P	0.89917	1.0;0.913;0.913	D;P;P	0.74674	0.984;0.612;0.706	T	0.79052	-0.1961	10	0.66056	D	0.02	-31.737	18.6227	0.91327	0.0:1.0:0.0:0.0	.	170;170;170	B4E213;F2Z2W7;Q8IZ69	.;.;TRM2A_HUMAN	Y	170	ENSP00000252136:D170Y;ENSP00000385807:D170Y;ENSP00000395738:D170Y	ENSP00000252136:D170Y	D	-	1	0	TRMT2A	18483652	1.000000	0.71417	0.316000	0.25252	0.079000	0.17450	5.232000	0.65332	2.523000	0.85059	0.491000	0.48974	GAC		PASS	0.642	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		15	65	15	65	---	---	---	---
HIC2	23119	broad.mit.edu	37	22	21799210	21799210	+	Splice_Site	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:21799210G>A	ENST00000443632.2	+	2	398		c.e2-1		HIC2_ENST00000407598.2_Splice_Site|HIC2_ENST00000407464.2_Splice_Site			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.?(1)		NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CTTGCCCACAGGTGGTGCGCG	0.667																																					NSCLC(23;437 858 2282 27947 40366)	uc002zur.3																			1	Unknown(1)		lung(1)	skin(1)	1						c.e3-1		hypermethylated in cancer 2							37.0	38.0	38.0					22																	21799210		2201	4298	6499	SO:0001630	splice_region_variant	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21799210G>A	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.27-1G>A	22.37:g.21799210G>A						HIC2_uc002zus.3_Splice_Site_p.R9_splice	p.R9_splice	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN			3	257	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)						Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Splice_Site	SNP	ENST00000443632.2	37	c.27_splice	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187463	0.57909	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2303	0.59938	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HIC2	20129210	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.320000	0.89995	2.584000	0.87258	0.561000	0.74099	.		PASS	0.667	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2		Intron	12	59	12	59	---	---	---	---
IGLV7-46	28775	broad.mit.edu	37	22	22724275	22724275	+	RNA	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:22724275C>T	ENST00000390295.2	+	0	205									immunoglobulin lambda variable 7-46 (gene/pseudogene)																		CCTACTGGTTCCAGCAGAAGC	0.582																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.																																						96610							g.chr22:22724275C>T	Z73674		22q11.2	2012-02-08	2008-09-12		ENSG00000211649	ENSG00000211649		"""Immunoglobulins / IGL locus"""	5930	other	immunoglobulin gene			"""immunoglobulin lambda variable 7-46"""				Standard	NG_000002		Approved				OTTHUMG00000151040		22.37:g.22724275C>T														43		+									RNA	SNP	ENST00000390295.2	37	c.4548C>T																																																																																					PASS	0.582	IGLV7-46-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321099.1	NG_000002		13	32	13	32	---	---	---	---
SGSM1	129049	broad.mit.edu	37	22	25243621	25243621	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:25243621C>G	ENST00000400359.4	+	4	167	c.160C>G	c.(160-162)Ctg>Gtg	p.L54V	SGSM1_ENST00000400358.4_Missense_Mutation_p.L54V	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	54	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)	p.L54V(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGCCTGCGTTCTGCACGGGCT	0.622																																						uc003abg.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(160-162)CTG>GTG		RUN and TBC1 domain containing 2 isoform 1							16.0	20.0	19.0					22																	25243621		2032	4127	6159	SO:0001583	missense	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25243621C>G	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.160C>G	22.37:g.25243621C>G	ENSP00000383212:p.Leu54Val					SGSM1_uc003abh.2_Missense_Mutation_p.L54V|SGSM1_uc010guu.1_Missense_Mutation_p.L54V|SGSM1_uc003abj.2_Missense_Mutation_p.L54V|SGSM1_uc003abi.1_Missense_Mutation_p.L29V|SGSM1_uc003abf.2_Missense_Mutation_p.L54V	p.L54V	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN			4	317	+			54			RUN.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.160C>G	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195860	0.38806	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.30448	1.53;1.53	3.97	2.95	0.34219	RUN (2);	0.071658	0.64402	D	0.000017	T	0.52256	0.1723	M	0.78637	2.42	0.54753	D	0.999981	P;D;D;D;P	0.69078	0.512;0.997;0.996;0.973;0.596	B;D;D;P;P	0.76071	0.215;0.987;0.986;0.813;0.53	T	0.52704	-0.8540	10	0.42905	T	0.14	-0.2637	11.0183	0.47703	0.0:0.9082:0.0:0.0918	.	54;29;29;54;29	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	V	29;54;54	ENSP00000383211:L54V;ENSP00000383212:L54V	ENSP00000383211:L54V	L	+	1	2	SGSM1	23573621	0.980000	0.34600	0.977000	0.42913	0.248000	0.25809	2.552000	0.45828	1.027000	0.39758	0.460000	0.39030	CTG		PASS	0.622	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		4	24	4	24	---	---	---	---
TFIP11	24144	broad.mit.edu	37	22	26888319	26888319	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:26888319G>T	ENST00000407690.1	-	15	2457	c.2174C>A	c.(2173-2175)cCa>cAa	p.P725Q	TFIP11_ENST00000407431.1_Missense_Mutation_p.P725Q|TFIP11_ENST00000405938.1_Missense_Mutation_p.P725Q|SRRD_ENST00000215917.7_3'UTR|TFIP11_ENST00000407148.1_Missense_Mutation_p.P725Q	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	725	Required for nuclear speckle localization. {ECO:0000250}.				biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)	p.P725Q(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CCGTGCTCCTGGCTGCATGTA	0.582																																						uc003acr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2173-2175)CCA>CAA		tuftelin interacting protein 11							121.0	103.0	109.0					22																	26888319		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26888319G>T	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.2174C>A	22.37:g.26888319G>T	ENSP00000384421:p.Pro725Gln					TFIP11_uc003acq.2_Missense_Mutation_p.P84Q|TFIP11_uc003acs.2_Missense_Mutation_p.P725Q|TFIP11_uc003act.2_Missense_Mutation_p.P725Q|uc003acu.1_RNA	p.P725Q	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN			14	2548	-			725					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.2174C>A	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693777	0.88735	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.984	T	0.68116	-0.5494	10	0.38643	T	0.18	-20.8195	18.333	0.90277	0.0:0.0:1.0:0.0	.	725;84	Q9UBB9;Q9UBB9-2	TFP11_HUMAN;.	Q	725;725;725;410;725	ENSP00000384421:P725Q;ENSP00000383892:P725Q;ENSP00000385861:P725Q;ENSP00000384297:P725Q	ENSP00000384297:P725Q	P	-	2	0	TFIP11	25218319	1.000000	0.71417	0.991000	0.47740	0.949000	0.60115	9.274000	0.95731	2.804000	0.96469	0.655000	0.94253	CCA		PASS	0.582	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		10	176	10	176	---	---	---	---
SYN3	8224	broad.mit.edu	37	22	33402434	33402434	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:33402434G>C	ENST00000358763.2	-	2	456	c.214C>G	c.(214-216)Cag>Gag	p.Q72E	SYN3_ENST00000332840.5_Missense_Mutation_p.Q72E	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	72	B; linker.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.Q72E(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GAGGTGGCCTGAGGGGCCTGC	0.602																																						uc003amx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(214-216)CAG>GAG		synapsin III isoform IIIa							81.0	82.0	81.0					22																	33402434		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:33402434G>C	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.214C>G	22.37:g.33402434G>C	ENSP00000351614:p.Gln72Glu					SYN3_uc003amy.2_Missense_Mutation_p.Q72E|SYN3_uc003amz.2_Missense_Mutation_p.Q72E	p.Q72E	NM_003490	NP_003481	O14994	SYN3_HUMAN			1	373	-			72			B; linker.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.214C>G	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455699	0.43634	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686;ENST00000441821;ENST00000412575	T;T	0.29655	1.56;1.56	5.21	4.18	0.49190	.	0.719655	0.13220	N	0.404436	T	0.34919	0.0914	L	0.57536	1.79	0.33785	D	0.624804	B;B;B	0.26002	0.083;0.139;0.083	B;B;B	0.24848	0.056;0.056;0.056	T	0.47573	-0.9107	10	0.54805	T	0.06	-3.9413	16.1656	0.81754	0.0:0.1336:0.8664:0.0	.	72;72;72	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	E	72	ENSP00000351614:Q72E;ENSP00000330219:Q72E	ENSP00000330219:Q72E	Q	-	1	0	SYN3	31732434	1.000000	0.71417	0.618000	0.29105	0.757000	0.42996	5.138000	0.64795	1.293000	0.44690	0.557000	0.71058	CAG		PASS	0.602	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			27	162	27	162	---	---	---	---
LARGE	9215	broad.mit.edu	37	22	33712171	33712171	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:33712171A>G	ENST00000354992.2	-	12	1922	c.1351T>C	c.(1351-1353)Ttc>Ctc	p.F451L	LARGE_ENST00000337431.2_Missense_Mutation_p.F399L|LARGE_ENST00000452586.2_Missense_Mutation_p.F250L|LARGE_ENST00000402320.1_Missense_Mutation_p.F399L|LARGE_ENST00000437602.2_Missense_Mutation_p.F451L|LARGE_ENST00000397394.2_Missense_Mutation_p.F451L	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	451					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.F451L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TGGACAGTGAAGCGCTCTCGC	0.602																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1351-1353)TTC>CTC		like-glycosyltransferase							165.0	123.0	137.0					22																	33712171		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33712171A>G	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1351T>C	22.37:g.33712171A>G	ENSP00000347088:p.Phe451Leu					LARGE_uc011amd.1_Missense_Mutation_p.F250L|LARGE_uc003ane.3_Missense_Mutation_p.F451L|LARGE_uc010gwp.2_Missense_Mutation_p.F399L|LARGE_uc011ame.1_Missense_Mutation_p.F383L|LARGE_uc011amf.1_Missense_Mutation_p.F451L|LARGE_uc010gwq.1_RNA	p.F451L	NM_004737	NP_004728	O95461	LARGE_HUMAN			12	1930	-		Lung NSC(1;0.219)	451			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.1351T>C	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.253917	0.22965	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000445431;ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.49720	1.27;1.26;1.27;1.26;0.78;0.77	5.26	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.12092	0.0294	N	0.00197	-1.87	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.22068	-1.0227	10	0.06236	T	0.91	-23.4065	10.925	0.47185	0.9263:0.0:0.0737:0.0	.	451;250;399;451	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	L	128;128;128;451;399;451;399;250;451	ENSP00000347088:F451L;ENSP00000336636:F399L;ENSP00000380549:F451L;ENSP00000385223:F399L;ENSP00000407917:F250L;ENSP00000388544:F451L	ENSP00000336636:F399L	F	-	1	0	LARGE	32042171	0.993000	0.37304	0.958000	0.39756	0.996000	0.88848	3.227000	0.51262	0.842000	0.35045	0.533000	0.62120	TTC		PASS	0.602	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		8	69	8	69	---	---	---	---
APOL6	80830	broad.mit.edu	37	22	36055367	36055367	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:36055367C>G	ENST00000409652.4	+	3	1032	c.756C>G	c.(754-756)ctC>ctG	p.L252L		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	252					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.L252L(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						TGGCCACTCTCTCAAAGGAAT	0.527																																						uc003aoe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(754-756)CTC>CTG		apolipoprotein L6							79.0	73.0	75.0					22																	36055367		2203	4300	6503	SO:0001819	synonymous_variant	80830				lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity	g.chr22:36055367C>G	AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"""Apolipoproteins"""	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.756C>G	22.37:g.36055367C>G						APOL6_uc003aod.2_RNA	p.L252L	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN			3	1050	+			252					Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Silent	SNP	ENST00000409652.4	37	c.756C>G	CCDS13919.1																																																																																				PASS	0.527	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319081.2	NM_030641		5	101	5	101	---	---	---	---
TMPRSS6	164656	broad.mit.edu	37	22	37462230	37462230	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:37462230A>G	ENST00000346753.3	-	18	2442	c.2326T>C	c.(2326-2328)Ttc>Ctc	p.F776L	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.F789L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.F767L|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.F789L	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	776	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.F776L(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CCCGCCAGGAACCAGCGGCCA	0.617																																						uc003aqs.1																			1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(1)|skin(1)	6						c.(2326-2328)TTC>CTC		transmembrane protease, serine 6							29.0	29.0	29.0					22																	37462230		2203	4299	6502	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37462230A>G	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.2326T>C	22.37:g.37462230A>G	ENSP00000334962:p.Phe776Leu					TMPRSS6_uc003aqt.1_Missense_Mutation_p.F789L	p.F776L	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN			18	2440	-			776			Peptidase S1.|Extracellular (Potential).		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.2326T>C	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	A	32	5.137216	0.94517	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12	4.46	4.46	0.54185	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.92896	0.7740	L	0.28740	0.885	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	D	0.93394	0.6754	10	0.54805	T	0.06	.	14.0248	0.64580	1.0:0.0:0.0:0.0	.	789;776	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	L	789;776;767;789	ENSP00000371211:F789L;ENSP00000334962:F776L;ENSP00000385453:F767L;ENSP00000384964:F789L	ENSP00000334962:F776L	F	-	1	0	TMPRSS6	35792176	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.161000	0.94739	1.768000	0.52137	0.383000	0.25322	TTC		PASS	0.617	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		7	22	7	22	---	---	---	---
CYTH4	27128	broad.mit.edu	37	22	37693655	37693655	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:37693655C>T	ENST00000248901.6	+	5	472	c.285C>T	c.(283-285)gaC>gaT	p.D95D	CYTH4_ENST00000405206.3_Silent_p.D95D|CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000402997.1_Silent_p.D95D	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	95	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)	p.D95D(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						ACGTCCAGGACATTGCACGGT	0.567																																						uc003arf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(283-285)GAC>GAT		cytohesin 4							93.0	85.0	88.0					22																	37693655		2203	4300	6503	SO:0001819	synonymous_variant	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37693655C>T	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.285C>T	22.37:g.37693655C>T						CYTH4_uc003ard.3_Silent_p.D95D|CYTH4_uc003are.2_Silent_p.D95D|CYTH4_uc011amw.1_Silent_p.D38D|CYTH4_uc010gxe.2_Intron	p.D95D	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN			5	401	+			95			SEC7.		Q5R3F9|Q9UGT6	Silent	SNP	ENST00000248901.6	37	c.285C>T	CCDS13946.1																																																																																				PASS	0.567	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			20	140	20	140	---	---	---	---
SUN2	25777	broad.mit.edu	37	22	39138319	39138319	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:39138319G>T	ENST00000405510.1	-	10	1413	c.1055C>A	c.(1054-1056)gCt>gAt	p.A352D	SUN2_ENST00000411587.2_Missense_Mutation_p.A341D|RP3-508I15.14_ENST00000416406.1_RNA|RP3-508I15.21_ENST00000609212.1_RNA|SUN2_ENST00000405018.1_Missense_Mutation_p.A373D|SUN2_ENST00000406622.1_Missense_Mutation_p.A352D|RP3-508I15.22_ENST00000607991.1_RNA|SUN2_ENST00000216064.4_Missense_Mutation_p.A352D	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	352					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)	p.A352D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GATGCGAGCAGCAGTTTCCCT	0.617																																						uc003awh.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(1054-1056)GCT>GAT		unc-84 homolog B							51.0	50.0	50.0					22																	39138319		2203	4300	6503	SO:0001583	missense	25777				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding	g.chr22:39138319G>T	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.1055C>A	22.37:g.39138319G>T	ENSP00000385740:p.Ala352Asp					SUN2_uc011anz.1_Missense_Mutation_p.A387D|SUN2_uc011aoa.1_Missense_Mutation_p.A341D|SUN2_uc003awi.1_Missense_Mutation_p.A352D|SUN2_uc010gxq.1_Missense_Mutation_p.A373D|SUN2_uc010gxr.1_Missense_Mutation_p.A352D|SUN2_uc010gxs.1_Missense_Mutation_p.A352D	p.A352D	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN			10	1339	-			352			Potential.|Perinuclear space.		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	ENST00000405510.1	37	c.1055C>A	CCDS13978.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930544	0.34096	.	.	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587	T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29	5.24	3.12	0.35913	.	0.840343	0.10483	N	0.669366	T	0.23965	0.0580	N	0.24115	0.695	0.09310	N	1	P;P;P;P;P	0.49961	0.93;0.93;0.877;0.918;0.877	P;B;B;P;B	0.44860	0.462;0.368;0.368;0.451;0.368	T	0.03249	-1.1056	10	0.11794	T	0.64	-3.8326	6.8078	0.23786	0.1588:0.0:0.7009:0.1403	.	341;387;352;373;352	B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.;.;.;.;SUN2_HUMAN	D	352;352;373;352;341	ENSP00000385740:A352D;ENSP00000216064:A352D;ENSP00000385616:A373D;ENSP00000383992:A352D;ENSP00000395601:A341D	ENSP00000216064:A352D	A	-	2	0	SUN2	37468265	0.003000	0.15002	0.002000	0.10522	0.015000	0.08874	1.383000	0.34385	1.182000	0.42928	0.555000	0.69702	GCT		PASS	0.617	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		16	102	16	102	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40718922	40718922	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:40718922C>G	ENST00000454349.2	+	23	5390	c.5179C>G	c.(5179-5181)Ctg>Gtg	p.L1727V	TNRC6B_ENST00000335727.9_Missense_Mutation_p.L1617V|TNRC6B_ENST00000301923.9_Missense_Mutation_p.L923V|TNRC6B_ENST00000402203.1_Missense_Mutation_p.L923V	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1727					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L1741V(1)|p.L923V(1)		breast(1)	1						CAGCCGCTTTCTGGCACAAGC	0.582																																						uc011aor.1																			2	Substitution - Missense(2)		lung(2)		0						c.(5179-5181)CTG>GTG		trinucleotide repeat containing 6B isoform 1							27.0	28.0	28.0					22																	40718922		2026	4190	6216	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40718922C>G	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.5179C>G	22.37:g.40718922C>G	ENSP00000401946:p.Leu1727Val					TNRC6B_uc003aym.2_Missense_Mutation_p.L923V|TNRC6B_uc003ayn.3_Missense_Mutation_p.L1617V	p.L1727V	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN			23	5390	+			1727					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.5179C>G	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309643	0.40895	.	.	ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	T;T;T;T	0.38240	1.15;1.15;2.46;2.39	5.79	3.37	0.38596	Nucleotide-binding, alpha-beta plait (1);	0.226724	0.38005	N	0.001850	T	0.49795	0.1578	L	0.47190	1.495	0.34357	D	0.69054	D;B;D	0.58268	0.982;0.395;0.974	D;B;D	0.70487	0.952;0.221;0.969	T	0.63950	-0.6521	10	0.66056	D	0.02	-5.9397	11.9145	0.52757	0.0:0.7902:0.0:0.2098	.	1727;1617;923	Q9UPQ9;Q9UPQ9-1;Q9UPQ9-2	TNR6B_HUMAN;.;.	V	923;923;1727;1617;1617	ENSP00000306759:L923V;ENSP00000384795:L923V;ENSP00000401946:L1727V;ENSP00000338371:L1617V	ENSP00000306759:L923V	L	+	1	2	TNRC6B	39048868	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.828000	0.27435	1.443000	0.47586	0.655000	0.94253	CTG		PASS	0.582	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				20	38	20	38	---	---	---	---
MKL1	57591	broad.mit.edu	37	22	40803811	40803811	+	IGR	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:40803811G>A	ENST00000355630.3	-	0	4496				SGSM3_ENST00000248929.9_Missense_Mutation_p.E515K|SGSM3_ENST00000454798.2_Missense_Mutation_p.E448K	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E515K(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						TCAGAAGGACGAGCACTGCTG	0.632			T	RBM15	acute megakaryocytic leukemia																																	uc003ayu.1				Dom	yes		22	22q13	57591		megakaryoblastic leukemia (translocation) 1			L					1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1543-1545)GAG>AAG		small G protein signaling modulator 3							58.0	60.0	59.0					22																	40803811		2203	4300	6503	SO:0001628	intergenic_variant	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40803811G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40803811G>A						SGSM3_uc011aos.1_Missense_Mutation_p.E448K|SGSM3_uc011aot.1_Missense_Mutation_p.E452K|SGSM3_uc010gyd.1_Missense_Mutation_p.E586K	p.E515K	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN			14	1752	+			515			SH3.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.1543G>A	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	35	5.517579	0.96416	.	.	ENSG00000100359	ENST00000248929;ENST00000454798	T;T	0.31247	1.5;1.5	5.23	5.23	0.72850	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	N	0.25332	0.735	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.79108	0.977;0.977;0.987;0.992	T	0.47509	-0.9112	10	0.87932	D	0	.	19.1737	0.93594	0.0:0.0:1.0:0.0	.	452;448;543;515	B4DVE3;B4DMS2;Q96HU1-2;Q96HU1	.;.;.;SGSM3_HUMAN	K	515;448	ENSP00000248929:E515K;ENSP00000390998:E448K	ENSP00000248929:E515K	E	+	1	0	SGSM3	39133757	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.123000	0.64703	2.610000	0.88304	0.561000	0.74099	GAG		PASS	0.632	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		27	70	27	70	---	---	---	---
XPNPEP3	63929	broad.mit.edu	37	22	41278163	41278163	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:41278163C>G	ENST00000357137.4	+	3	655	c.571C>G	c.(571-573)Ctt>Gtt	p.L191V	XPNPEP3_ENST00000414396.1_Missense_Mutation_p.L191V|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.L191V|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.L168V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	191					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)	p.L191V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						ATTTCAACATCTTCTACCAAA	0.418																																					Ovarian(145;306 1841 7037 21878 30110)	uc003azh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(571-573)CTT>GTT		X-prolyl aminopeptidase (aminopeptidase P) 3,							58.0	59.0	59.0					22																	41278163		2203	4298	6501	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41278163C>G		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.571C>G	22.37:g.41278163C>G	ENSP00000349658:p.Leu191Val					XPNPEP3_uc011aox.1_Missense_Mutation_p.L191V|XPNPEP3_uc003azi.2_Missense_Mutation_p.L112V|XPNPEP3_uc011aoy.1_RNA|XPNPEP3_uc010gyh.1_RNA	p.L191V	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN			3	663	+			191					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.571C>G	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	C	0.071	-1.202384	0.01581	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.64	4.62	0.57501	Peptidase M24B, X-Pro dipeptidase/aminopeptidase P N-terminal (1);	0.140040	0.47093	D	0.000244	T	0.57681	0.2070	N	0.21282	0.65	0.35753	D	0.819574	B;B	0.28880	0.226;0.059	B;B	0.34093	0.175;0.017	T	0.57539	-0.7794	10	0.14656	T	0.56	.	7.1244	0.25463	0.0:0.6974:0.1428:0.1599	.	191;191	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	V	191;191;191;168	ENSP00000443682:L191V;ENSP00000397110:L191V;ENSP00000349658:L191V;ENSP00000441942:L168V	ENSP00000349658:L191V	L	+	1	0	XPNPEP3	39608109	1.000000	0.71417	0.635000	0.29338	0.163000	0.22366	1.143000	0.31553	1.401000	0.46761	-0.268000	0.10319	CTT		PASS	0.418	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		51	107	51	107	---	---	---	---
ZC3H7B	23264	broad.mit.edu	37	22	41751776	41751776	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:41751776G>A	ENST00000352645.4	+	19	2441	c.2184G>A	c.(2182-2184)cgG>cgA	p.R728R	ZC3H7B_ENST00000351589.4_Silent_p.R728R	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	744					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R728R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCAAGGAGCGGCGGGTCCTTC	0.597																																						uc003azw.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(2182-2184)CGG>CGA		zinc finger CCCH-type containing 7B							43.0	41.0	42.0					22																	41751776		2202	4300	6502	SO:0001819	synonymous_variant	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41751776G>A		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2184G>A	22.37:g.41751776G>A						ZC3H7B_uc010gyl.1_Intron	p.R728R	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN			19	2400	+			744					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	ENST00000352645.4	37	c.2184G>A	CCDS14013.1																																																																																				PASS	0.597	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		17	21	17	21	---	---	---	---
XRCC6	2547	broad.mit.edu	37	22	42042909	42042909	+	Silent	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:42042909G>A	ENST00000359308.4	+	6	1438	c.783G>A	c.(781-783)ctG>ctA	p.L261L	XRCC6_ENST00000428575.2_Silent_p.L128L|XRCC6_ENST00000405506.1_Silent_p.L211L|XRCC6_ENST00000402580.3_Silent_p.L220L|XRCC6_ENST00000405878.1_Silent_p.L261L|Y_RNA_ENST00000363462.1_RNA|XRCC6_ENST00000360079.3_Silent_p.L261L			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	261	Ku.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.L261L(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GGTTAAAGCTGAAGCTCAACA	0.383								Non-homologous end-joining																														uc003bao.1																			1	Substitution - coding silent(1)	p.L261L(1)	lung(1)	skin(2)|ovary(1)|lung(1)|kidney(1)	5						c.(781-783)CTG>CTA	Direct_reversal_of_damage|NHEJ	ATP-dependent DNA helicase II, 70 kDa subunit							90.0	99.0	96.0					22																	42042909		2202	4299	6501	SO:0001819	synonymous_variant	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42042909G>A	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.783G>A	22.37:g.42042909G>A						XRCC6_uc003bap.1_Silent_p.L220L|XRCC6_uc011apc.1_Silent_p.L211L|XRCC6_uc003baq.1_Silent_p.L261L|XRCC6_uc003bar.1_Silent_p.L261L|XRCC6_uc003bas.1_Silent_p.L211L	p.L261L	NM_001469	NP_001460	P12956	XRCC6_HUMAN			7	853	+			261			Ku.		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Silent	SNP	ENST00000359308.4	37	c.783G>A	CCDS14021.1																																																																																				PASS	0.383	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		17	349	17	349	---	---	---	---
KIAA0930	23313	broad.mit.edu	37	22	45595791	45595791	+	Silent	SNP	G	G	A	rs150877720		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:45595791G>A	ENST00000336156.5	-	8	1043	c.978C>T	c.(976-978)aaC>aaT	p.N326N	KIAA0930_ENST00000251993.7_Silent_p.N331N|KIAA0930_ENST00000443310.3_Silent_p.N308N|MIR1249_ENST00000408671.1_RNA|KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000391627.2_Silent_p.N292N	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	326								p.N331N(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CCTCGCTGTCGTTGGCCGAGT	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17316	0.0		0.0	False		,,,				2504	0.0					uc003bfx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(976-978)AAC>AAT		hypothetical protein LOC23313 isoform b		G	,	4,4402	8.1+/-20.4	0,4,2199	97.0	89.0	92.0		978,993	-1.2	1.0	22	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KIAA0930	NM_001009880.1,NM_015264.1	,	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	,	326/405,331/410	45595791	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	23313						protein binding	g.chr22:45595791G>A	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.978C>T	22.37:g.45595791G>A						C22orf9_uc010gzw.1_Silent_p.N178N|C22orf9_uc003bfv.1_Silent_p.N335N|C22orf9_uc003bfw.1_Silent_p.N331N|C22orf9_uc010gzx.2_Silent_p.N308N	p.N326N	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)	8	1044	-		Ovarian(80;0.00965)|all_neural(38;0.0244)	326					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Silent	SNP	ENST00000336156.5	37	c.978C>T	CCDS33665.1																																																																																				PASS	0.627	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		29	146	29	146	---	---	---	---
PKDREJ	10343	broad.mit.edu	37	22	46654413	46654413	+	Missense_Mutation	SNP	C	C	T	rs546954517		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:46654413C>T	ENST00000253255.5	-	1	4806	c.4807G>A	c.(4807-4809)Ggc>Agc	p.G1603S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1603					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.G1603S(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTGTCATAGCCGTAAGTCAGT	0.393													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21427	0.0		0.0	False		,,,				2504	0.0					uc003bhh.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)	5						c.(4807-4809)GGC>AGC		receptor for egg jelly-like protein precursor							95.0	90.0	92.0					22																	46654413		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654413C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4807G>A	22.37:g.46654413C>T	ENSP00000253255:p.Gly1603Ser						p.G1603S	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4807	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1603			Extracellular (Potential).		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.4807G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.944678	0.53079	.	.	ENSG00000130943	ENST00000253255	T	0.22134	1.97	4.7	2.6	0.31112	.	0.000000	0.53938	D	0.000045	T	0.37945	0.1022	M	0.89840	3.065	0.36632	D	0.876345	D	0.56746	0.977	P	0.49637	0.617	T	0.53746	-0.8395	10	0.48119	T	0.1	-13.8992	10.11	0.42557	0.0:0.8357:0.0:0.1643	.	1603	Q9NTG1	PKDRE_HUMAN	S	1603	ENSP00000253255:G1603S	ENSP00000253255:G1603S	G	-	1	0	PKDREJ	45033077	0.995000	0.38212	0.544000	0.28141	0.460000	0.32559	3.423000	0.52756	0.525000	0.28522	0.305000	0.20034	GGC		PASS	0.393	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		29	93	29	93	---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5821118	5821118	+	Splice_Site	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:5821118C>T	ENST00000381095.3	-	5	2228	c.1601G>A	c.(1600-1602)gGt>gAt	p.G534D	NLGN4X_ENST00000275857.6_Splice_Site_p.G534D|NLGN4X_ENST00000381093.2_Splice_Site_p.G554D|NLGN4X_ENST00000538097.1_Splice_Site_p.G534D|NLGN4X_ENST00000381092.1_Splice_Site_p.G534D	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	534					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.G534D(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATGAACGTACCCAGTTTTGGC	0.507																																						uc010ndh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(1600-1602)GGT>GAT		X-linked neuroligin 4 precursor							140.0	103.0	115.0					X																	5821118		2203	4300	6503	SO:0001630	splice_region_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821118C>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1601+1G>A	X.37:g.5821118C>T						NLGN4X_uc004crp.2_Missense_Mutation_p.G554D|NLGN4X_uc004crq.2_Missense_Mutation_p.G534D|NLGN4X_uc010ndi.2_Missense_Mutation_p.G571D|NLGN4X_uc004crr.2_Missense_Mutation_p.G534D|NLGN4X_uc010ndj.2_Missense_Mutation_p.G534D	p.G534D	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			5	2102	-			534			Extracellular (Potential).		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.1601G>A	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.713870	0.48622	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	3.74	3.74	0.42951	Carboxylesterase, type B (1);	.	.	.	.	D	0.90528	0.7032	H	0.97315	3.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93656	0.6977	8	.	.	.	.	14.1092	0.65111	0.0:1.0:0.0:0.0	.	591;534;554	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	D	534;554;534;534;534	ENSP00000370485:G534D;ENSP00000370483:G554D;ENSP00000275857:G534D;ENSP00000370482:G534D;ENSP00000439203:G534D	.	G	-	2	0	NLGN4X	5831118	1.000000	0.71417	0.708000	0.30435	0.287000	0.27160	6.709000	0.74665	1.478000	0.48253	0.466000	0.42574	GGT		PASS	0.507	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742	Missense_Mutation	8	82	8	82	---	---	---	---
ASB11	140456	broad.mit.edu	37	X	15311360	15311360	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:15311360A>T	ENST00000480796.1	-	4	502	c.452T>A	c.(451-453)cTg>cAg	p.L151Q	ASB11_ENST00000344384.4_Missense_Mutation_p.L130Q|ASB11_ENST00000380470.3_Missense_Mutation_p.L134Q|ASB11_ENST00000537676.1_Missense_Mutation_p.L130Q			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	151					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.L151Q(1)|p.L130Q(1)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					TCCGAACTCCAGCAGCACATT	0.547																																						uc004cwp.1																			2	Substitution - Missense(2)		lung(2)	breast(2)|skin(1)	3						c.(451-453)CTG>CAG		ankyrin repeat and SOCS box-containing protein							192.0	157.0	169.0					X																	15311360		2203	4300	6503	SO:0001583	missense	140456				intracellular signal transduction			g.chrX:15311360A>T	AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"""Ankyrin repeat domain containing"""	17186	protein-coding gene	gene with protein product		300626	"""ankyrin repeat and SOCS box-containing 11"", ""ankyrin repeat and SOCS box containing 11"""			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.452T>A	X.37:g.15311360A>T	ENSP00000417914:p.Leu151Gln					ASB11_uc004cwo.1_Missense_Mutation_p.L130Q|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.L134Q	p.L151Q	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN			4	452	-	Hepatocellular(33;0.183)		151			ANK 3.		E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	ENST00000480796.1	37	c.452T>A	CCDS14164.1	.	.	.	.	.	.	.	.	.	.	a	18.88	3.717100	0.68844	.	.	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	5.07	5.07	0.68467	Ankyrin repeat-containing domain (4);	0.000000	0.53938	D	0.000042	D	0.88001	0.6320	M	0.90252	3.1	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.987;0.995	D	0.90322	0.4345	10	0.87932	D	0	-0.7394	13.2387	0.59985	1.0:0.0:0.0:0.0	.	134;151;130	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	Q	130;134;130;151	ENSP00000445465:L130Q;ENSP00000369837:L134Q;ENSP00000343408:L130Q;ENSP00000417914:L151Q	ENSP00000343408:L130Q	L	-	2	0	ASB11	15221281	1.000000	0.71417	0.998000	0.56505	0.574000	0.36063	8.083000	0.89515	1.788000	0.52465	0.483000	0.47432	CTG		PASS	0.547	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2			51	190	51	190	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21534642	21534642	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:21534642G>C	ENST00000379510.3	+	9	886	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	CNKSR2_ENST00000543067.1_Intron|CNKSR2_ENST00000279451.4_Missense_Mutation_p.E284Q|CNKSR2_ENST00000425654.2_Missense_Mutation_p.E284Q	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	284	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.E284Q(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TGCACTACGAGAGGACCCGAG	0.413																																						uc004czx.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(850-852)GAG>CAG		connector enhancer of kinase suppressor of Ras							123.0	112.0	115.0					X																	21534642		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21534642G>C	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.850G>C	X.37:g.21534642G>C	ENSP00000368824:p.Glu284Gln					CNKSR2_uc004czw.2_Missense_Mutation_p.E284Q|CNKSR2_uc011mjn.1_Intron|CNKSR2_uc011mjo.1_Missense_Mutation_p.E284Q	p.E284Q	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			9	886	+			284			PDZ.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.850G>C	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160334	0.57368	.	.	ENSG00000149970	ENST00000425654;ENST00000279451;ENST00000379510	T;T;T	0.28069	1.63;1.63;1.63	5.25	5.25	0.73442	PDZ/DHR/GLGF (4);	0.058118	0.64402	D	0.000001	T	0.48021	0.1477	L	0.49640	1.575	0.80722	D	1	D;B	0.60575	0.988;0.327	P;B	0.60886	0.88;0.241	T	0.42413	-0.9453	10	0.48119	T	0.1	-16.9667	17.8997	0.88900	0.0:0.0:1.0:0.0	.	284;284	B7ZLJ1;Q8WXI2	.;CNKR2_HUMAN	Q	284	ENSP00000397906:E284Q;ENSP00000279451:E284Q;ENSP00000368824:E284Q	ENSP00000279451:E284Q	E	+	1	0	CNKSR2	21444563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.160000	0.67779	0.594000	0.82650	GAG		PASS	0.413	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		34	129	34	129	---	---	---	---
DDX53	168400	broad.mit.edu	37	X	23018538	23018538	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:23018538G>C	ENST00000327968.5	+	1	452	c.364G>C	c.(364-366)Gaa>Caa	p.E122Q	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	122						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)	p.E122Q(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CTACAACTCAGAATCCAGTGT	0.403																																						uc004daj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|kidney(1)	3						c.(364-366)GAA>CAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							109.0	106.0	107.0					X																	23018538		2203	4300	6503	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23018538G>C	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.364G>C	X.37:g.23018538G>C	ENSP00000368667:p.Glu122Gln						p.E122Q	NM_182699	NP_874358	Q86TM3	DDX53_HUMAN			1	452	+			122					Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.364G>C	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	G	8.551	0.875580	0.17395	.	.	ENSG00000184735	ENST00000327968	T	0.20881	2.04	4.3	1.55	0.23275	.	1.024120	0.07784	N	0.953897	T	0.17492	0.0420	L	0.43923	1.385	0.09310	N	1	B	0.19817	0.039	B	0.20577	0.03	T	0.35699	-0.9778	10	0.27785	T	0.31	-2.7211	5.9478	0.19229	0.3542:0.0:0.6458:0.0	.	122	Q86TM3	DDX53_HUMAN	Q	122	ENSP00000368667:E122Q	ENSP00000368667:E122Q	E	+	1	0	DDX53	22928459	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	0.364000	0.20325	0.089000	0.17243	-0.192000	0.12808	GAA		PASS	0.403	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		10	122	10	122	---	---	---	---
LANCL3	347404	broad.mit.edu	37	X	37526617	37526617	+	Silent	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:37526617C>G	ENST00000378619.3	+	4	1197	c.978C>G	c.(976-978)ctC>ctG	p.L326L	LANCL3_ENST00000378621.3_Silent_p.L326L|TM4SF2_ENST00000465127.1_Intron	NM_001170331.1	NP_001163802.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	326							catalytic activity (GO:0003824)	p.L326L(2)		lung(4)|pancreas(1)	5						GTGGGGAACTCACATGGCAGA	0.507																																						uc011mkd.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(976-978)CTC>CTG		LanC lantibiotic synthetase component C-like 3							87.0	76.0	80.0					X																	37526617		2202	4300	6502	SO:0001819	synonymous_variant	347404						catalytic activity	g.chrX:37526617C>G	AK124915	CCDS14240.1, CCDS55398.1	Xp21.1	2008-02-05			ENSG00000147036	ENSG00000147036			24767	protein-coding gene	gene with protein product							Standard	NM_198511		Approved	FLJ42925	uc011mkd.2	Q6ZV70	OTTHUMG00000033177	ENST00000378619.3:c.978C>G	X.37:g.37526617C>G						LANCL3_uc004ddp.1_Silent_p.L326L	p.L326L	NM_198511	NP_940913	Q6ZV70	LANC3_HUMAN			4	1280	+			326					A6NHE3	Silent	SNP	ENST00000378619.3	37	c.978C>G	CCDS55398.1																																																																																				PASS	0.507	LANCL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080885.1	NM_198511		14	63	14	63	---	---	---	---
RPGR	6103	broad.mit.edu	37	X	38144829	38144829	+	Intron	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:38144829C>A	ENST00000339363.3	-	14	2688				RPGR_ENST00000309513.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000378505.2_Missense_Mutation_p.W1141C|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)	p.W1141C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ATACATTATTCCAGAACTTTT	0.398																																						uc004ded.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3421-3423)TGG>TGT		retinitis pigmentosa GTPase regulator isoform C							139.0	124.0	129.0					X																	38144829		2202	4300	6502	SO:0001627	intron_variant	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38144829C>A	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+1517G>T	X.37:g.38144829C>A						RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron	p.W1141C	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN			15	3591	-			Error:Variant_position_missing_in_Q92834_after_alignment					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.3423G>T		.	.	.	.	.	.	.	.	.	.	c	8.563	0.878310	0.17395	.	.	ENSG00000156313	ENST00000378505	T	0.67865	-0.29	3.91	3.02	0.34903	.	.	.	.	.	T	0.62672	0.2447	M	0.65498	2.005	0.80722	D	1	B	0.33748	0.423	B	0.31101	0.124	T	0.63998	-0.6510	9	0.87932	D	0	.	11.9163	0.52767	0.0:0.826:0.174:0.0	.	1141	E9PE28	.	C	1141	ENSP00000367766:W1141C	ENSP00000367766:W1141C	W	-	3	0	RPGR	38029773	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	5.374000	0.66167	0.584000	0.29591	0.413000	0.27773	TGG		PASS	0.398	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		87	76	87	76	---	---	---	---
ARAF	369	broad.mit.edu	37	X	47426294	47426294	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:47426294G>C	ENST00000377045.4	+	8	905	c.711G>C	c.(709-711)caG>caC	p.Q237H	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	237					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.Q237H(1)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	TCACTGGCCAGAGTTTCAGCA	0.602																																						uc011mlq.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|lung(2)|ovary(1)|skin(1)	7						c.(709-711)CAG>CAC		v-raf murine sarcoma 3611 viral oncogene	Adenosine triphosphate(DB00171)						138.0	109.0	119.0					X																	47426294		2203	4300	6503	SO:0001583	missense	369				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chrX:47426294G>C	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.711G>C	X.37:g.47426294G>C	ENSP00000366244:p.Gln237His					ARAF_uc011mln.1_Intron|ARAF_uc011mlo.1_Missense_Mutation_p.Q103H|ARAF_uc011mlp.1_Missense_Mutation_p.Q237H|ARAF_uc004dic.1_Missense_Mutation_p.Q18H	p.Q237H	NM_001654	NP_001645	P10398	ARAF_HUMAN			8	844	+			237					P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	ENST00000377045.4	37	c.711G>C	CCDS35232.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504499	0.26949	.	.	ENSG00000078061	ENST00000377045	T	0.74737	-0.87	5.31	5.31	0.75309	.	0.595773	0.14158	N	0.337576	T	0.64757	0.2627	N	0.22421	0.69	0.80722	D	1	B;P	0.51351	0.014;0.944	B;B	0.42738	0.01;0.396	T	0.68176	-0.5478	10	0.62326	D	0.03	.	13.3007	0.60324	0.0:0.0:1.0:0.0	.	237;103	P10398;B4DV85	ARAF_HUMAN;.	H	237	ENSP00000366244:Q237H	ENSP00000366244:Q237H	Q	+	3	2	ARAF	47311238	0.910000	0.30920	1.000000	0.80357	0.988000	0.76386	3.274000	0.51631	2.201000	0.70794	0.544000	0.68410	CAG		PASS	0.602	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			19	71	19	71	---	---	---	---
MAGED1	9500	broad.mit.edu	37	X	51644851	51644851	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:51644851G>C	ENST00000375722.1	+	12	2414	c.2162G>C	c.(2161-2163)gGa>gCa	p.G721A	MAGED1_ENST00000375695.2_Missense_Mutation_p.G777A|MAGED1_ENST00000375772.3_Missense_Mutation_p.G721A|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Missense_Mutation_p.G721A			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	721					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)	p.G777A(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GATGAGGAAGGAGATTTTGGA	0.542										Multiple Myeloma(10;0.10)																												uc004dpm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2161-2163)GGA>GCA		melanoma antigen family D, 1 isoform b							99.0	95.0	96.0					X																	51644851		2203	4300	6503	SO:0001583	missense	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51644851G>C	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.2162G>C	X.37:g.51644851G>C	ENSP00000364874:p.Gly721Ala	Multiple Myeloma(10;0.10)				MAGED1_uc004dpn.2_Missense_Mutation_p.G777A|MAGED1_uc004dpo.2_Missense_Mutation_p.G721A	p.G721A	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN			12	2257	+	Ovarian(276;0.236)		721					Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	c.2162G>C	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019383	0.35606	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.11063	2.91;2.91;2.91;2.81	3.96	3.96	0.45880	.	0.000000	0.43747	D	0.000525	T	0.15305	0.0369	N	0.19112	0.55	0.35692	D	0.814967	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.981	T	0.18871	-1.0323	10	0.17832	T	0.49	.	10.4724	0.44644	0.0:0.0:1.0:0.0	.	777;721	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	A	721;721;721;777	ENSP00000364927:G721A;ENSP00000364874:G721A;ENSP00000325333:G721A;ENSP00000364847:G777A	ENSP00000325333:G721A	G	+	2	0	MAGED1	51661591	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.578000	0.53892	2.231000	0.72958	0.436000	0.28706	GGA		PASS	0.542	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		12	43	12	43	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53584372	53584372	+	Nonsense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:53584372G>C	ENST00000342160.3	-	59	8634	c.8177C>G	c.(8176-8178)tCa>tGa	p.S2726*	MIRLET7F2_ENST00000385277.1_RNA|HUWE1_ENST00000262854.6_Nonsense_Mutation_p.S2726*|MIR98_ENST00000606724.1_RNA			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2726					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.S2604*(1)|p.S2726*(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGAGTCATTTGACTTAGATGC	0.433																																						uc004dsp.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(8176-8178)TCA>TGA		HECT, UBA and WWE domain containing 1							145.0	130.0	135.0					X																	53584372		2203	4300	6503	SO:0001587	stop_gained	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53584372G>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8177C>G	X.37:g.53584372G>C	ENSP00000340648:p.Ser2726*					HUWE1_uc004dsn.2_Nonsense_Mutation_p.S1550*|MIR98_hsa-mir-98|MI0000100_5'Flank|uc004dsr.1_5'Flank|uc004dss.2_5'Flank|MIRLET7F2_hsa-let-7f-2|MI0000068_5'Flank	p.S2726*	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			60	8579	-			2726					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Nonsense_Mutation	SNP	ENST00000342160.3	37	c.8177C>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	52	19.523603	0.99920	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	.	.	.	5.64	5.64	0.86602	.	0.965697	0.08452	N	0.943711	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	12.4946	0.55921	0.0:0.0:0.833:0.167	.	.	.	.	X	2726	.	ENSP00000262854:S2726X	S	-	2	0	HUWE1	53601097	0.998000	0.40836	0.982000	0.44146	0.899000	0.52679	5.261000	0.65496	2.376000	0.81061	0.600000	0.82982	TCA		PASS	0.433	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		9	82	9	82	---	---	---	---
TRO	7216	broad.mit.edu	37	X	54952896	54952896	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:54952896T>A	ENST00000173898.7	+	8	1743	c.1631T>A	c.(1630-1632)tTt>tAt	p.F544Y	TRO_ENST00000375041.2_Missense_Mutation_p.F147Y|TRO_ENST00000319167.8_Missense_Mutation_p.F544Y|TRO_ENST00000420798.2_Missense_Mutation_p.F75Y|TRO_ENST00000399736.1_Missense_Mutation_p.F147Y|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375022.4_Missense_Mutation_p.F544Y	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	544	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.F544Y(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AGTGTCATTTTTATGAATGGC	0.493																																						uc004dtq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1630-1632)TTT>TAT		trophinin isoform 5							106.0	107.0	107.0					X																	54952896		2203	4300	6503	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54952896T>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1631T>A	X.37:g.54952896T>A	ENSP00000173898:p.Phe544Tyr					TRO_uc004dts.2_Missense_Mutation_p.F544Y|TRO_uc004dtr.2_Missense_Mutation_p.F544Y|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Missense_Mutation_p.F147Y|TRO_uc011mok.1_Missense_Mutation_p.F75Y|TRO_uc004dtw.2_Missense_Mutation_p.F147Y|TRO_uc004dtx.2_5'UTR	p.F544Y	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			8	1738	+			544			MAGE.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.1631T>A	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.046716	0.36085	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.06218	3.33;3.33;3.33;3.33;3.33;3.33	2.92	2.92	0.33932	.	.	.	.	.	T	0.13628	0.0330	L	0.45137	1.4	0.37198	D	0.904259	D;P;D;D	0.76494	0.995;0.926;0.999;0.995	P;P;D;P	0.87578	0.893;0.758;0.998;0.893	T	0.09818	-1.0657	9	0.59425	D	0.04	.	4.7759	0.13178	0.281:0.0:0.0:0.719	.	147;147;544;544	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	Y	544;544;544;147;147;75;147	ENSP00000173898:F544Y;ENSP00000318278:F544Y;ENSP00000364162:F544Y;ENSP00000382641:F147Y;ENSP00000405126:F75Y;ENSP00000364181:F147Y	ENSP00000173898:F544Y	F	+	2	0	TRO	54969621	0.976000	0.34144	0.964000	0.40570	0.421000	0.31385	1.212000	0.32394	1.388000	0.46506	0.417000	0.27973	TTT		PASS	0.493	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		13	68	13	68	---	---	---	---
USP51	158880	broad.mit.edu	37	X	55514731	55514731	+	Silent	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:55514731G>T	ENST00000500968.3	-	2	724	c.642C>A	c.(640-642)atC>atA	p.I214I	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	214					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.I214I(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						AACGCTGGTAGATCAACCTCA	0.493																																						uc004dun.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(640-642)ATC>ATA		ubiquitin specific protease 51							86.0	71.0	76.0					X																	55514731		2203	4300	6503	SO:0001819	synonymous_variant	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55514731G>T	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.642C>A	X.37:g.55514731G>T						USP51_uc011moo.1_Intron	p.I214I	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN			2	721	-			214					Q8IWJ8	Silent	SNP	ENST00000500968.3	37	c.642C>A	CCDS14370.1																																																																																				PASS	0.493	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		40	18	40	18	---	---	---	---
ZC4H2	55906	broad.mit.edu	37	X	64137706	64137706	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:64137706C>A	ENST00000374839.3	-	5	738	c.632G>T	c.(631-633)cGg>cTg	p.R211L	ZC4H2_ENST00000545618.1_Missense_Mutation_p.R206L|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Missense_Mutation_p.R188L|ZC4H2_ENST00000447788.2_Missense_Mutation_p.G157C	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	211					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)	p.G157C(1)|p.R211L(1)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTTCCGGGACCGACTCTTGGC	0.488																																						uc004dvu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(631-633)CGG>CTG		zinc finger, C4H2 domain containing							148.0	97.0	114.0					X																	64137706		2203	4300	6503	SO:0001583	missense	55906						metal ion binding|protein binding	g.chrX:64137706C>A	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.632G>T	X.37:g.64137706C>A	ENSP00000363972:p.Arg211Leu					ZC4H2_uc004dvv.2_Missense_Mutation_p.R188L|ZC4H2_uc011mov.1_Missense_Mutation_p.R188L|ZC4H2_uc011mow.1_Missense_Mutation_p.G157C|ZC4H2_uc004dvw.1_3'UTR	p.R211L	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN			5	720	-			211					B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Missense_Mutation	SNP	ENST00000374839.3	37	c.632G>T	CCDS14380.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.669699|4.669699	0.88348|0.88348	.|.	.|.	ENSG00000126970|ENSG00000126970	ENST00000447788|ENST00000545618;ENST00000374839;ENST00000337990	.|.	.|.	.|.	5.42|5.42	4.56|4.56	0.56223|0.56223	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77412|0.77412	0.4126|0.4126	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P|D	0.46656|0.58268	0.882|0.982	P|D	0.51170|0.74023	0.661|0.982	T|T	0.79495|0.79495	-0.1780|-0.1780	7|8	0.59425|0.87932	D|D	0.04|0	-22.7347|-22.7347	11.1829|11.1829	0.48638|0.48638	0.0:0.908:0.0:0.092|0.0:0.908:0.0:0.092	.|.	157|211	B4DED0|Q9NQZ6	.|ZC4H2_HUMAN	C|L	157|206;211;188	.|.	ENSP00000399126:G157C|ENSP00000338650:R188L	G|R	-|-	1|2	0|0	ZC4H2|ZC4H2	64054431|64054431	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.218000|7.218000	0.77991|0.77991	1.185000|1.185000	0.42971|0.42971	0.594000|0.594000	0.82650|0.82650	GGT|CGG		PASS	0.488	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		20	15	20	15	---	---	---	---
P2RY4	5030	broad.mit.edu	37	X	69478906	69478907	+	Missense_Mutation	DNP	CG	CG	GA			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:69478906_69478907CG>GA	ENST00000374519.2	-	1	747_748	c.568_569CG>TC	c.(568-570)CGg>TCg	p.R190S		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	190					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)	p.R190W(1)|p.R190P(1)|p.R190S(1)		cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CTCTTCAGGCCGAGTGGTGTCA	0.574																																						uc004dxz.1																			3	Substitution - Missense(3)		lung(3)	lung(1)	1						c.(568-570)CGG>CCG|c.(568-570)CGG>TGG		pyrimidinergic receptor P2Y4																																				SO:0001583	missense	5030				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:69478906C>G|g.chrX:69478907G>A	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.568_569delinsGA	X.37:g.69478906_69478907delinsGA	ENSP00000363643:p.Arg190Ser						p.R190P|p.R190W	NM_002565	NP_002556	P51582	P2RY4_HUMAN			1	749|748	-			190			Extracellular (Potential).		Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	ENST00000374519.2	37	c.569G>C|c.568C>T	CCDS14398.1																																																																																				PASS	0.574	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565		40	14|12	40	12	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70472742	70472742	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:70472742C>T	ENST00000353904.2	-	2	551	c.364G>A	c.(364-366)Gag>Aag	p.E122K	ZMYM3_ENST00000373988.1_Missense_Mutation_p.E122K|ZMYM3_ENST00000373984.3_Missense_Mutation_p.E122K|ZMYM3_ENST00000373982.1_Missense_Mutation_p.E122K|ZMYM3_ENST00000314425.5_Missense_Mutation_p.E122K|ZMYM3_ENST00000373981.1_Missense_Mutation_p.E122K|ZMYM3_ENST00000373998.1_Missense_Mutation_p.E122K|ZMYM3_ENST00000373978.1_Missense_Mutation_p.E122K|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	122					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E122K(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GGTACCACCTCAGGGGTCTGG	0.622																																						uc004dzh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(364-366)GAG>AAG		zinc finger protein 261							26.0	26.0	26.0					X																	70472742		2203	4298	6501	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70472742C>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.364G>A	X.37:g.70472742C>T	ENSP00000343909:p.Glu122Lys					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.E122K|ZMYM3_uc004dzj.1_Missense_Mutation_p.E122K|ZMYM3_uc011mpu.1_5'Flank|ZMYM3_uc004dzk.3_Missense_Mutation_p.E122K|ZMYM3_uc004dzl.3_Missense_Mutation_p.E122K|ZMYM3_uc004dzm.3_Missense_Mutation_p.E122K	p.E122K	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			2	451	-	Renal(35;0.156)		122					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.364G>A	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	15.78	2.935195	0.52866	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T	0.47869	1.45;0.86;1.45;1.45;1.45;0.83;0.83	5.28	4.41	0.53225	.	0.125818	0.36555	N	0.002534	T	0.40272	0.1110	N	0.14661	0.345	0.28490	N	0.914534	P;B;B	0.52842	0.956;0.004;0.002	D;B;B	0.65010	0.931;0.006;0.003	T	0.33292	-0.9874	10	0.11485	T	0.65	-18.5603	5.0785	0.14644	0.0:0.7394:0.0:0.2606	.	122;122;122	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	K	122	ENSP00000322845:E122K;ENSP00000363110:E122K;ENSP00000343909:E122K;ENSP00000363096:E122K;ENSP00000363100:E122K;ENSP00000363094:E122K;ENSP00000363093:E122K	ENSP00000322845:E122K	E	-	1	0	ZMYM3	70389467	0.996000	0.38824	1.000000	0.80357	0.524000	0.34500	1.733000	0.38156	2.204000	0.70986	0.287000	0.19450	GAG		PASS	0.622	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		9	27	9	27	---	---	---	---
RGAG4	340526	broad.mit.edu	37	X	71351267	71351267	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:71351267C>A	ENST00000545866.1	-	1	491	c.124G>T	c.(124-126)Gag>Tag	p.E42*	NHSL2_ENST00000373677.1_5'Flank|NHSL2_ENST00000535692.1_5'Flank|NHSL2_ENST00000540800.1_Intron|NHSL2_ENST00000510661.1_5'Flank|RGAG4_ENST00000609883.1_Nonsense_Mutation_p.E42*	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	42								p.E115*(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GAATTAACCTCGGCCAGGGCT	0.597																																						uc010nlh.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(124-126)GAG>TAG		retrotransposon gag domain containing 4							47.0	49.0	49.0					X																	71351267		1911	4092	6003	SO:0001587	stop_gained	340526							g.chrX:71351267C>A	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.124G>T	X.37:g.71351267C>A	ENSP00000441366:p.Glu42*					NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank|NHSL2_uc010nli.2_5'Flank	p.E42*	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN			1	485	-	Renal(35;0.156)		42					A7E2W7|Q8NCM4|Q9NPX1	Nonsense_Mutation	SNP	ENST00000545866.1	37	c.124G>T	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	c	39	7.448667	0.98289	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9797	0.47486	0.0:1.0:0.0:0.0	.	.	.	.	X	42	.	.	E	-	1	0	RGAG4	71267992	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	1.728000	0.38105	2.357000	0.79964	0.553000	0.69018	GAG		PASS	0.597	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		41	49	41	49	---	---	---	---
TBX22	50945	broad.mit.edu	37	X	79282234	79282234	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:79282234C>A	ENST00000373294.5	+	5	693	c.665C>A	c.(664-666)cCc>cAc	p.P222H	TBX22_ENST00000442340.1_Missense_Mutation_p.P102H|TBX22_ENST00000373291.1_Missense_Mutation_p.P102H|TBX22_ENST00000373296.3_Missense_Mutation_p.P222H	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	222					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P222H(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAGTACAAACCCCGAGTGCAC	0.458																																						uc010nmg.1																			1	Substitution - Missense(1)		lung(1)	lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(664-666)CCC>CAC		T-box 22 isoform 1							161.0	129.0	140.0					X																	79282234		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79282234C>A	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.665C>A	X.37:g.79282234C>A	ENSP00000362390:p.Pro222His					TBX22_uc004edi.1_Missense_Mutation_p.P102H|TBX22_uc004edj.1_Missense_Mutation_p.P222H	p.P222H	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			6	799	+			222			T-box.		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.665C>A	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624631	0.66901	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33	3.88	3.88	0.44766	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.98855	0.9613	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99091	1.0840	10	0.87932	D	0	.	12.6447	0.56728	0.0:1.0:0.0:0.0	.	222	Q9Y458	TBX22_HUMAN	H	222;102;222;102	ENSP00000362393:P222H;ENSP00000396394:P102H;ENSP00000362390:P222H;ENSP00000362388:P102H	ENSP00000362388:P102H	P	+	2	0	TBX22	79168890	1.000000	0.71417	0.997000	0.53966	0.718000	0.41266	6.821000	0.75272	1.923000	0.55706	0.600000	0.82982	CCC		PASS	0.458	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		42	50	42	50	---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79937529	79937529	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:79937529G>A	ENST00000373275.4	-	39	4678	c.4462C>T	c.(4462-4464)Cat>Tat	p.H1488Y	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1488					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.H1488Y(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTCCTGGCATGAGATACTGAG	0.358																																						uc004edt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(4462-4464)CAT>TAT		bromodomain and WD repeat domain containing 3							211.0	178.0	189.0					X																	79937529		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79937529G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4462C>T	X.37:g.79937529G>A	ENSP00000362372:p.His1488Tyr					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.H1084Y|BRWD3_uc004edp.2_Missense_Mutation_p.H1317Y|BRWD3_uc004edq.2_Missense_Mutation_p.H1084Y|BRWD3_uc010nmj.1_Missense_Mutation_p.H1084Y|BRWD3_uc004edr.2_Missense_Mutation_p.H1158Y|BRWD3_uc004eds.2_Missense_Mutation_p.H1084Y|BRWD3_uc004edu.2_Missense_Mutation_p.H1158Y|BRWD3_uc004edv.2_Missense_Mutation_p.H1084Y|BRWD3_uc004edw.2_Missense_Mutation_p.H1084Y|BRWD3_uc004edx.2_Missense_Mutation_p.H1084Y|BRWD3_uc004edy.2_Missense_Mutation_p.H1084Y|BRWD3_uc004edz.2_Missense_Mutation_p.H1158Y|BRWD3_uc004eea.2_Missense_Mutation_p.H1158Y|BRWD3_uc004eeb.2_Missense_Mutation_p.H1084Y	p.H1488Y	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			39	4725	-			1488					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4462C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	0.957	-0.704590	0.03255	.	.	ENSG00000165288	ENST00000373275	T	0.52295	0.67	5.2	5.2	0.72013	.	0.795439	0.11866	N	0.521878	T	0.24812	0.0602	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27739	-1.0065	9	.	.	.	-4.2359	4.9734	0.14127	0.6167:0.146:0.2373:0.0	.	1488	Q6RI45	BRWD3_HUMAN	Y	1488	ENSP00000362372:H1488Y	.	H	-	1	0	BRWD3	79824185	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.106000	0.31098	0.720000	0.32209	-0.631000	0.03989	CAT		PASS	0.358	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		24	114	24	114	---	---	---	---
CYLC1	1538	broad.mit.edu	37	X	83128683	83128683	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:83128683A>G	ENST00000329312.4	+	4	1004	c.967A>G	c.(967-969)Aaa>Gaa	p.K323E		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	323					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.K323E(1)|p.K322E(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AGATGACAAGAAAAAGGATGT	0.333																																						uc004eei.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(967-969)AAA>GAA		cylicin, basic protein of sperm head							46.0	42.0	43.0					X																	83128683		2196	4295	6491	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128683A>G	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.967A>G	X.37:g.83128683A>G	ENSP00000331556:p.Lys323Glu					CYLC1_uc004eeh.1_Missense_Mutation_p.K322E	p.K323E	NM_021118	NP_066941	P35663	CYLC1_HUMAN			4	988	+			323			2.		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.967A>G	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	a	12.89	2.074321	0.36566	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.21932	1.98	4.58	3.44	0.39384	.	.	.	.	.	T	0.36744	0.0978	M	0.62723	1.935	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.71870	0.975;0.975	T	0.10520	-1.0626	9	0.45353	T	0.12	-11.5641	5.3463	0.16010	0.8739:0.0:0.1261:0.0	.	323;323	P35663;F5H4V5	CYLC1_HUMAN;.	E	323	ENSP00000331556:K323E	ENSP00000331556:K323E	K	+	1	0	CYLC1	83015339	0.482000	0.25948	0.046000	0.18839	0.979000	0.70002	2.189000	0.42621	1.809000	0.52856	0.430000	0.28490	AAA		PASS	0.333	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		12	33	12	33	---	---	---	---
KLHL4	56062	broad.mit.edu	37	X	86887307	86887307	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:86887307T>G	ENST00000373119.4	+	7	1567	c.1422T>G	c.(1420-1422)atT>atG	p.I474M	KLHL4_ENST00000373114.4_Missense_Mutation_p.I474M	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	474						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.I474M(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TCGCAGTTATTGATAATAAGC	0.413																																						uc004efb.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1420-1422)ATT>ATG		kelch-like 4 isoform 1							118.0	100.0	106.0					X																	86887307		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86887307T>G	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1422T>G	X.37:g.86887307T>G	ENSP00000362211:p.Ile474Met					KLHL4_uc004efa.2_Missense_Mutation_p.I474M	p.I474M	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			7	1604	+			474			Kelch 1.		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1422T>G	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.792945	0.50102	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.79454	-1.27;-1.27	5.32	2.91	0.33838	Galactose oxidase, beta-propeller (1);	0.053836	0.64402	D	0.000001	T	0.73048	0.3537	N	0.21142	0.635	0.45979	D	0.998797	P;P	0.49253	0.849;0.921	P;P	0.59424	0.857;0.776	T	0.68258	-0.5456	10	0.35671	T	0.21	.	5.5562	0.17117	0.1556:0.0846:0.0:0.7598	.	474;474	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	M	474	ENSP00000362211:I474M;ENSP00000362206:I474M	ENSP00000362206:I474M	I	+	3	3	KLHL4	86773963	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.652000	0.24888	0.641000	0.30601	0.412000	0.27726	ATT		PASS	0.413	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			46	26	46	26	---	---	---	---
CPXCR1	53336	broad.mit.edu	37	X	88009209	88009209	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:88009209T>C	ENST00000276127.4	+	3	1053	c.794T>C	c.(793-795)gTt>gCt	p.V265A	CPXCR1_ENST00000373111.1_Missense_Mutation_p.V265A	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	265							metal ion binding (GO:0046872)	p.V265A(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						ACCATGAATGTTATGATCACA	0.328																																						uc004efd.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(793-795)GTT>GCT		CPX chromosome region, candidate 1							43.0	40.0	41.0					X																	88009209		2201	4295	6496	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88009209T>C	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.794T>C	X.37:g.88009209T>C	ENSP00000276127:p.Val265Ala					CPXCR1_uc004efc.3_Missense_Mutation_p.V265A	p.V265A	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN			3	1053	+			265					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.794T>C	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	T	8.904	0.956999	0.18507	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.29917	1.55;1.55	3.57	-0.307	0.12777	.	1.310120	0.05681	N	0.590454	T	0.19087	0.0458	N	0.24115	0.695	0.09310	N	1	B	0.17038	0.02	B	0.12837	0.008	T	0.26780	-1.0093	9	.	.	.	-0.6274	5.8653	0.18771	0.0:0.3932:0.0:0.6068	.	265	Q8N123	CPXCR_HUMAN	A	265	ENSP00000276127:V265A;ENSP00000362203:V265A	.	V	+	2	0	CPXCR1	87895865	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.167000	0.16602	-0.151000	0.11176	0.481000	0.45027	GTT		PASS	0.328	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		24	25	24	25	---	---	---	---
NAP1L3	4675	broad.mit.edu	37	X	92927281	92927281	+	Silent	SNP	C	C	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:92927281C>T	ENST00000373079.3	-	1	1286	c.1023G>A	c.(1021-1023)tcG>tcA	p.S341S	NAP1L3_ENST00000475430.2_Silent_p.S334S|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	341					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.S341S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GGCTAACATCCGACAAGAACT	0.423																																						uc004efq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1021-1023)TCG>TCA		nucleosome assembly protein 1-like 3							53.0	48.0	50.0					X																	92927281		2203	4300	6503	SO:0001819	synonymous_variant	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927281C>T		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.1023G>A	X.37:g.92927281C>T						FAM133A_uc004efr.1_5'Flank	p.S341S	NM_004538	NP_004529	Q99457	NP1L3_HUMAN			1	1328	-			341					B2RCM0|O60788	Silent	SNP	ENST00000373079.3	37	c.1023G>A	CCDS14465.1																																																																																				PASS	0.423	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		68	44	68	44	---	---	---	---
CENPI	2491	broad.mit.edu	37	X	100417910	100417910	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:100417910C>G	ENST00000372927.1	+	21	2502	c.2225C>G	c.(2224-2226)tCt>tGt	p.S742C	CENPI_ENST00000218507.5_Missense_Mutation_p.S728C|CENPI_ENST00000423383.1_Missense_Mutation_p.S742C	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	742					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)		p.S742C(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						GTTCATCATTCTTCCATTCCC	0.388																																						uc004egx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2224-2226)TCT>TGT		centromere protein I							122.0	112.0	115.0					X																	100417910		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100417910C>G	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.2225C>G	X.37:g.100417910C>G	ENSP00000362018:p.Ser742Cys					CENPI_uc011mrg.1_Missense_Mutation_p.S728C	p.S742C	NM_006733	NP_006724	Q92674	CENPI_HUMAN			21	2495	+			742					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.2225C>G	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	c	15.03	2.712100	0.48517	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372927	.	.	.	4.81	1.82	0.25136	.	0.805990	0.11668	N	0.541103	T	0.34687	0.0906	L	0.29908	0.895	0.09310	N	1	D;D	0.71674	0.998;0.981	P;P	0.54270	0.747;0.747	T	0.12630	-1.0540	9	0.54805	T	0.06	-5.0576	5.3568	0.16065	0.0:0.4946:0.3103:0.195	.	728;742	B4DZL4;Q92674	.;CENPI_HUMAN	C	742;728;742	.	ENSP00000218507:S728C	S	+	2	0	CENPI	100304566	0.999000	0.42202	0.303000	0.25071	0.340000	0.28889	0.568000	0.23623	0.377000	0.24735	0.597000	0.82753	TCT		PASS	0.388	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		111	63	111	63	---	---	---	---
BTK	695	broad.mit.edu	37	X	100617573	100617573	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:100617573G>T	ENST00000308731.7	-	6	659	c.496C>A	c.(496-498)Caa>Aaa	p.Q166K	BTK_ENST00000372880.1_Missense_Mutation_p.Q166K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	166					adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.Q166K(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCCAAAATTTGGCAGCCCATA	0.458									Agammaglobulinemia, X-linked																													uc004ehg.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(2)|ovary(1)	6	GRCh37	CM980267	BTK	M		c.(496-498)CAA>AAA		Bruton agammaglobulinemia tyrosine kinase							131.0	119.0	123.0					X																	100617573		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100617573G>T	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.496C>A	X.37:g.100617573G>T	ENSP00000308176:p.Gln166Lys					BTK_uc010nnn.2_Missense_Mutation_p.Q166K|BTK_uc010nno.2_Missense_Mutation_p.Q200K|BTK_uc004ehi.2_Missense_Mutation_p.Q166K	p.Q166K	NM_000061	NP_000052	Q06187	BTK_HUMAN			6	689	-			166			Btk-type.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.496C>A	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184262	0.38609	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;D	0.93712	-3.27;-3.27	5.49	5.49	0.81192	Pleckstrin homology-type (1);Zinc finger, Btk motif (4);	0.165028	0.53938	D	0.000045	D	0.86744	0.6006	N	0.22421	0.69	0.41153	D	0.986041	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.82006	-0.0671	10	0.08179	T	0.78	.	14.9112	0.70758	0.0:0.0:0.8565:0.1435	.	166;166;166	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	K	166	ENSP00000361971:Q166K;ENSP00000308176:Q166K	ENSP00000308176:Q166K	Q	-	1	0	BTK	100504229	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.939000	0.56591	2.305000	0.77605	0.529000	0.55759	CAA		PASS	0.458	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		116	79	116	79	---	---	---	---
TCEAL5	340543	broad.mit.edu	37	X	102528982	102528982	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:102528982C>G	ENST00000372680.1	-	3	804	c.510G>C	c.(508-510)tgG>tgC	p.W170C		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.W170C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						CTCTTTGCATCCAATGAAAAC	0.517																																						uc004ejz.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(508-510)TGG>TGC		transcription elongation factor A (SII)-like 5							141.0	129.0	133.0					X																	102528982		2203	4300	6503	SO:0001583	missense	340543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chrX:102528982C>G		CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.510G>C	X.37:g.102528982C>G	ENSP00000361765:p.Trp170Cys						p.W170C	NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN			3	805	-			170					A2RUJ4	Missense_Mutation	SNP	ENST00000372680.1	37	c.510G>C	CCDS35356.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671473	0.29693	.	.	ENSG00000204065	ENST00000372680	T	0.13089	2.62	2.53	1.62	0.23740	.	0.000000	0.36482	N	0.002563	T	0.32315	0.0825	M	0.80422	2.495	0.50171	D	0.999856	D	0.89917	1.0	D	0.97110	1.0	T	0.02326	-1.1176	10	0.49607	T	0.09	.	6.434	0.21813	0.0:0.6974:0.3026:0.0	.	170	Q5H9L2	TCAL5_HUMAN	C	170	ENSP00000361765:W170C	ENSP00000361765:W170C	W	-	3	0	TCEAL5	102415638	1.000000	0.71417	0.953000	0.39169	0.936000	0.57629	1.447000	0.35101	0.469000	0.27268	0.292000	0.19580	TGG		PASS	0.517	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057696.1	XM_291334		53	162	53	162	---	---	---	---
MUM1L1	139221	broad.mit.edu	37	X	105450803	105450803	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:105450803G>C	ENST00000357175.2	+	4	2027	c.1378G>C	c.(1378-1380)Gag>Cag	p.E460Q	MUM1L1_ENST00000337685.2_Missense_Mutation_p.E460Q|MUM1L1_ENST00000372552.1_Missense_Mutation_p.E460Q	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	460						extracellular vesicular exosome (GO:0070062)		p.E460Q(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAAAGCCAGGGAGGATTATAG	0.363																																						uc004emf.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1378-1380)GAG>CAG		melanoma associated antigen (mutated) 1-like 1							85.0	76.0	78.0					X																	105450803		1839	4078	5917	SO:0001583	missense	139221							g.chrX:105450803G>C	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1378G>C	X.37:g.105450803G>C	ENSP00000349699:p.Glu460Gln					MUM1L1_uc004emg.1_Missense_Mutation_p.E460Q	p.E460Q	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN			4	2027	+			460					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.1378G>C	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.668244	0.29604	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.70869	-0.52;-0.52;-0.52	4.31	4.31	0.51392	.	0.000000	0.53938	D	0.000059	T	0.80031	0.4549	M	0.62723	1.935	0.29573	N	0.849711	D	0.76494	0.999	D	0.78314	0.991	T	0.75593	-0.3264	10	0.66056	D	0.02	-29.2761	11.1014	0.48177	0.0:0.0:1.0:0.0	.	460	Q5H9M0	MUML1_HUMAN	Q	460	ENSP00000349699:E460Q;ENSP00000338641:E460Q;ENSP00000361632:E460Q	ENSP00000338641:E460Q	E	+	1	0	MUM1L1	105337459	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	3.130000	0.50508	2.388000	0.81334	0.529000	0.55759	GAG		PASS	0.363	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		54	50	54	50	---	---	---	---
TEX13B	56156	broad.mit.edu	37	X	107224904	107224904	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:107224904G>T	ENST00000302917.1	-	2	546	c.454C>A	c.(454-456)Cat>Aat	p.H152N		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	152								p.H152N(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CTTACGGCATGGAAGAGCTTC	0.597																																						uc004enn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(454-456)CAT>AAT		testis expressed 13B							115.0	86.0	96.0					X																	107224904		2200	4300	6500	SO:0001583	missense	56156							g.chrX:107224904G>T	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.454C>A	X.37:g.107224904G>T	ENSP00000303777:p.His152Asn						p.H152N	NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN			2	547	-			152					Q5JYF6	Missense_Mutation	SNP	ENST00000302917.1	37	c.454C>A	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760181	0.31137	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.49	-1.99	0.07457	.	.	.	.	.	T	0.27027	0.0662	L	0.39898	1.24	0.09310	N	1	P	0.46220	0.874	B	0.44163	0.443	T	0.14254	-1.0479	8	0.62326	D	0.03	.	3.4492	0.07491	0.2277:0.0:0.2671:0.5052	.	152	Q9BXU2	TX13B_HUMAN	N	152	.	ENSP00000303777:H152N	H	-	1	0	TEX13B	107111560	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.267000	0.08619	-0.672000	0.05266	-0.197000	0.12766	CAT		PASS	0.597	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			15	80	15	80	---	---	---	---
DCX	1641	broad.mit.edu	37	X	110644549	110644549	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:110644549T>A	ENST00000338081.3	-	3	788	c.617A>T	c.(616-618)tAt>tTt	p.Y206F	DCX_ENST00000371993.2_Missense_Mutation_p.Y125F|DCX_ENST00000356915.2_Missense_Mutation_p.Y125F|DCX_ENST00000488120.1_Missense_Mutation_p.Y125F|DCX_ENST00000356220.3_Missense_Mutation_p.Y125F|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	206	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.		Y -> D (in SBHX). {ECO:0000269|PubMed:9618162}.|Y -> H (in LISX1 and SBHX). {ECO:0000269|PubMed:9489699}.		axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.Y125F(1)|p.Y206F(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GGAACAGACATAGCTTTCCCC	0.378																																						uc004epd.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|lung(1)|skin(1)	4						c.(616-618)TAT>TTT		doublecortin isoform a							77.0	73.0	75.0					X																	110644549		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110644549T>A	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.617A>T	X.37:g.110644549T>A	ENSP00000337697:p.Tyr206Phe					DCX_uc011msv.1_Missense_Mutation_p.Y206F|DCX_uc004epe.2_Missense_Mutation_p.Y125F|DCX_uc004epf.2_Missense_Mutation_p.Y125F|DCX_uc004epg.2_Missense_Mutation_p.Y125F	p.Y206F	NM_000555	NP_000546	O43602	DCX_HUMAN			3	789	-			206		Y -> H (in LISX1 and SBHX).|Y -> D (in SBHX).	Doublecortin 1.		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.617A>T	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.5|22.5	4.292370|4.292370	0.80914|0.80914	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000358070|ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	.|D;D;D;D;D	.|0.96136	.|-3.92;-3.92;-3.92;-3.92;-3.92	4.74|4.74	4.74|4.74	0.60224|0.60224	.|Doublecortin domain (5);	.|0.189770	.|0.46442	.|D	.|0.000283	D|D	0.98194|0.98194	0.9403|0.9403	H|H	0.94503|0.94503	3.545|3.545	0.80722|0.80722	D|D	1|1	.|P;P	.|0.49961	.|0.93;0.93	.|D;D	.|0.66979	.|0.923;0.948	D|D	0.99372|0.99372	1.0920|1.0920	5|10	.|0.87932	.|D	.|0	.|.	13.9428|13.9428	0.64066|0.64066	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|194;206	.|B4DM53;O43602	.|.;DCX_HUMAN	L|F	198|125;125;206;125;125	.|ENSP00000349385:Y125F;ENSP00000361061:Y125F;ENSP00000337697:Y206F;ENSP00000348553:Y125F;ENSP00000419861:Y125F	.|ENSP00000337697:Y206F	M|Y	-|-	1|2	0|0	DCX|DCX	110531205|110531205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.020000|8.020000	0.88740|0.88740	1.826000|1.826000	0.53198|0.53198	0.486000|0.486000	0.48141|0.48141	ATG|TAT		PASS	0.378	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		78	55	78	55	---	---	---	---
IL13RA1	3597	broad.mit.edu	37	X	117900499	117900499	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:117900499G>C	ENST00000371666.3	+	7	902	c.835G>C	c.(835-837)Gag>Cag	p.E279Q	IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	279	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)	p.E279Q(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						CAAGGTCCAAGAGGCTAAATG	0.338																																						uc004eqs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(835-837)GAG>CAG		interleukin 13 receptor, alpha 1 precursor							68.0	66.0	67.0					X																	117900499		2203	4300	6503	SO:0001583	missense	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117900499G>C	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.835G>C	X.37:g.117900499G>C	ENSP00000360730:p.Glu279Gln					IL13RA1_uc004eqt.1_Missense_Mutation_p.E279Q	p.E279Q	NM_001560	NP_001551	P78552	I13R1_HUMAN			7	878	+			279			Extracellular (Potential).		O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	c.835G>C	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	G	4.935	0.173763	0.09391	.	.	ENSG00000131724	ENST00000371666	D	0.91180	-2.8	4.54	3.59	0.41128	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.784850	0.02826	N	0.126087	D	0.90532	0.7033	L	0.38692	1.165	0.24376	N	0.994817	D;D	0.71674	0.998;0.998	P;P	0.56612	0.802;0.802	T	0.79790	-0.1655	10	0.29301	T	0.29	-11.4573	5.6554	0.17640	0.156:0.0:0.844:0.0	.	279;279	Q5JSL4;P78552	.;I13R1_HUMAN	Q	279	ENSP00000360730:E279Q	ENSP00000360730:E279Q	E	+	1	0	IL13RA1	117784527	1.000000	0.71417	0.295000	0.24960	0.028000	0.11728	4.150000	0.58098	2.082000	0.62665	0.459000	0.35465	GAG		PASS	0.338	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		45	36	45	36	---	---	---	---
DCAF12L1	139170	broad.mit.edu	37	X	125685517	125685517	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:125685517A>G	ENST00000371126.1	-	1	1317	c.1075T>C	c.(1075-1077)Tac>Cac	p.Y359H		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	359								p.Y359H(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						ATGTGGCGGTAGAAGCTCAGC	0.622																																						uc004eul.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1075-1077)TAC>CAC		DDB1 and CUL4 associated factor 12-like 1							32.0	34.0	33.0					X																	125685517		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125685517A>G	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1075T>C	X.37:g.125685517A>G	ENSP00000360167:p.Tyr359His						p.Y359H	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	1326	-			359			WD 4.		Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.1075T>C	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	A	6.872	0.530319	0.13127	.	.	ENSG00000198889	ENST00000371126	T	0.62788	-0.0	3.64	2.48	0.30137	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.32769	N	0.005663	T	0.49047	0.1534	L	0.46157	1.445	0.32639	N	0.520982	B	0.17465	0.022	B	0.14578	0.011	T	0.50734	-0.8793	10	0.35671	T	0.21	.	6.2072	0.20610	0.8683:0.0:0.1317:0.0	.	359	Q5VU92	DC121_HUMAN	H	359	ENSP00000360167:Y359H	ENSP00000360167:Y359H	Y	-	1	0	DCAF12L1	125513198	1.000000	0.71417	0.844000	0.33320	0.079000	0.17450	4.853000	0.62911	0.613000	0.30089	0.350000	0.21858	TAC		PASS	0.622	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		4	38	4	38	---	---	---	---
ELF4	2000	broad.mit.edu	37	X	129205333	129205333	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:129205333C>G	ENST00000308167.5	-	6	973	c.594G>C	c.(592-594)agG>agC	p.R198S	ELF4_ENST00000335997.7_Missense_Mutation_p.R198S	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)									p.R198S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TTGATTTCTTCCTAATGGGGA	0.592			T	ERG	AML																																	uc004evd.3				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(592-594)AGG>AGC		E74-like factor 4							160.0	115.0	130.0					X																	129205333		2203	4300	6503	SO:0001583	missense	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129205333C>G	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.594G>C	X.37:g.129205333C>G	ENSP00000311280:p.Arg198Ser					ELF4_uc004eve.3_Missense_Mutation_p.R198S	p.R198S	NM_001421	NP_001412	Q99607	ELF4_HUMAN			6	979	-			198			RUNX1-binding.			Missense_Mutation	SNP	ENST00000308167.5	37	c.594G>C	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227257	0.79576	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.20738	2.05;2.05	5.45	4.58	0.56647	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.200186	0.41500	D	0.000874	T	0.30198	0.0757	L	0.50333	1.59	0.40146	D	0.976899	P	0.47962	0.903	P	0.55011	0.766	T	0.06516	-1.0822	10	0.72032	D	0.01	.	6.679	0.23110	0.0:0.7068:0.1946:0.0986	.	198	Q99607	ELF4_HUMAN	S	198	ENSP00000338608:R198S;ENSP00000311280:R198S	ENSP00000311280:R198S	R	-	3	2	ELF4	129033014	0.998000	0.40836	0.996000	0.52242	0.968000	0.65278	1.889000	0.39718	1.049000	0.40321	0.513000	0.50165	AGG		PASS	0.592	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		14	59	14	59	---	---	---	---
RAB33A	9363	broad.mit.edu	37	X	129318484	129318484	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:129318484C>A	ENST00000257017.4	+	2	898	c.484C>A	c.(484-486)Ccc>Acc	p.P162T		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	162					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.P162T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GATCCAGGTGCCCTCCAACTT	0.512																																						uc004evl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(484-486)CCC>ACC		Ras-related protein Rab-33A							127.0	95.0	106.0					X																	129318484		2203	4300	6503	SO:0001583	missense	9363				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chrX:129318484C>A	D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"""RAB, member RAS oncogene"""	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.484C>A	X.37:g.129318484C>A	ENSP00000257017:p.Pro162Thr					RAB33A_uc010nre.2_RNA	p.P162T	NM_004794	NP_004785	Q14088	RB33A_HUMAN			2	748	+			162					Q5JUZ6|Q92465	Missense_Mutation	SNP	ENST00000257017.4	37	c.484C>A	CCDS14621.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965983	0.34659	.	.	ENSG00000134594	ENST00000257017	T	0.75477	-0.94	5.02	5.02	0.67125	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	N	0.02665	-0.54	0.80722	D	1	B	0.15141	0.012	B	0.20184	0.028	T	0.51710	-0.8671	10	0.37606	T	0.19	-13.1124	17.5716	0.87935	0.0:1.0:0.0:0.0	.	162	Q14088	RB33A_HUMAN	T	162	ENSP00000257017:P162T	ENSP00000257017:P162T	P	+	1	0	RAB33A	129146165	1.000000	0.71417	0.997000	0.53966	0.904000	0.53231	4.113000	0.57851	2.076000	0.62316	0.436000	0.28706	CCC		PASS	0.512	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	NM_004794		12	106	12	106	---	---	---	---
SPANXN2	494119	broad.mit.edu	37	X	142803733	142803733	+	Silent	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:142803733C>A	ENST00000370498.1	-	1	783	c.30G>T	c.(28-30)ggG>ggT	p.G10G		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	10								p.G10G(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTTCTCCCCATTGGTGC	0.433																																						uc004fbz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(28-30)GGG>GGT		SPANX-N2 protein							258.0	250.0	252.0					X																	142803733		2203	4300	6503	SO:0001819	synonymous_variant	494119							g.chrX:142803733C>A		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.30G>T	X.37:g.142803733C>A							p.G10G	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			1	784	-	Acute lymphoblastic leukemia(192;6.56e-05)		10					Q0ZNM2	Silent	SNP	ENST00000370498.1	37	c.30G>T	CCDS35419.1																																																																																				PASS	0.433	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		155	178	155	178	---	---	---	---
MIR510	574515	broad.mit.edu	37	X	146353923	146353923	+	RNA	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:146353923C>A	ENST00000384909.1	-	0	3					NR_030237.1				microRNA 510																		GAGTAGGACACCACACACATA	0.398																																						hsa-mir-510|MI0003197																			0					0															123.0	94.0	103.0					X																	146353923		1568	3582	5150			574515							g.chrX:146353923C>A			Xq27.3	2011-09-12		2008-12-18	ENSG00000207641	ENSG00000207641		"""ncRNAs / Micro RNAs"""	32147	non-coding RNA	RNA, micro		300866		MIRN510			Standard	NR_030237		Approved	hsa-mir-510	uc022cga.1				X.37:g.146353923C>A																-									RNA	SNP	ENST00000384909.1	37	c.4C>A																																																																																					PASS	0.398	MIR510-201	KNOWN	basic	miRNA	miRNA		NR_030237		5	76	5	76	---	---	---	---
CD99L2	83692	broad.mit.edu	37	X	149937524	149937524	+	Nonsense_Mutation	SNP	C	C	A	rs201756978		TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:149937524C>A	ENST00000370377.3	-	11	889	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	CD99L2_ENST00000437787.2_Nonsense_Mutation_p.E185*|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Nonsense_Mutation_p.E186*|CD99L2_ENST00000466436.1_Nonsense_Mutation_p.E209*	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	258	Poly-Pro.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E258*(1)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CGGGCTGGTTCGGGCGGCGGC	0.622																																						uc004fel.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|ovary(1)	3						c.(772-774)GAA>TAA		CD99 antigen-like 2 isoform E3'-E4'-E3-E4							54.0	64.0	61.0					X																	149937524		2203	4300	6503	SO:0001587	stop_gained	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149937524C>A	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.772G>T	X.37:g.149937524C>A	ENSP00000359403:p.Glu258*					CD99L2_uc004fek.2_RNA|CD99L2_uc004fem.2_Nonsense_Mutation_p.E209*|CD99L2_uc004fen.2_Nonsense_Mutation_p.E186*|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_Nonsense_Mutation_p.E185*	p.E258*	NM_031462	NP_113650	Q8TCZ2	C99L2_HUMAN			11	890	-	Acute lymphoblastic leukemia(192;6.56e-05)		258			Cytoplasmic (Potential).|Poly-Pro.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Nonsense_Mutation	SNP	ENST00000370377.3	37	c.772G>T	CCDS35427.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266699	0.59540	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000355149;ENST00000437787;ENST00000466436	.	.	.	4.31	2.46	0.29980	.	1.347340	0.04969	N	0.463443	.	.	.	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.26	11.923	0.52803	0.0:0.6344:0.3656:0.0	.	.	.	.	X	258;268;186;185;209	.	.	E	-	1	0	CD99L2	149688182	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.154000	0.16343	0.364000	0.24374	0.594000	0.82650	GAA		PASS	0.622	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		43	39	43	39	---	---	---	---
MAGEA6	4105	broad.mit.edu	37	X	151870215	151870215	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:151870215C>A	ENST00000329342.5	+	3	1130	c.905C>A	c.(904-906)cCa>cAa	p.P302Q		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	302	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.P302Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTCCTACCCACTCCTGCAT	0.562																																						uc004ffq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(904-906)CCA>CAA		melanoma antigen family A, 6							124.0	121.0	122.0					X																	151870215		2202	4298	6500	SO:0001583	missense	4105						protein binding	g.chrX:151870215C>A		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.905C>A	X.37:g.151870215C>A	ENSP00000329199:p.Pro302Gln					MAGEA6_uc004ffr.1_Missense_Mutation_p.P302Q|MAGEA2_uc010nto.2_Intron	p.P302Q	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	1099	+	Acute lymphoblastic leukemia(192;6.56e-05)		302			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.905C>A	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	c	9.193	1.026525	0.19512	.	.	ENSG00000197172	ENST00000329342	T	0.02121	4.44	0.605	-0.583	0.11706	.	.	.	.	.	T	0.10165	0.0249	M	0.85373	2.75	0.09310	N	1	D	0.76494	0.999	D	0.68353	0.957	T	0.07501	-1.0769	8	0.87932	D	0	.	.	.	.	.	302	P43360	MAGA6_HUMAN	Q	302	ENSP00000329199:P302Q	ENSP00000329199:P302Q	P	+	2	0	MAGEA6	151620871	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.899000	0.04101	-0.314000	0.08716	0.181000	0.17075	CCA		PASS	0.562	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		90	67	90	67	---	---	---	---
MAGEA6	4105	broad.mit.edu	37	X	151870217	151870217	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:151870217C>A	ENST00000329342.5	+	3	1132	c.907C>A	c.(907-909)Ctc>Atc	p.L303I		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	303	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.L303I(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTACCCACTCCTGCATGA	0.572																																						uc004ffq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(907-909)CTC>ATC		melanoma antigen family A, 6							121.0	119.0	120.0					X																	151870217		2202	4298	6500	SO:0001583	missense	4105						protein binding	g.chrX:151870217C>A		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.907C>A	X.37:g.151870217C>A	ENSP00000329199:p.Leu303Ile					MAGEA6_uc004ffr.1_Missense_Mutation_p.L303I|MAGEA2_uc010nto.2_Intron	p.L303I	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	1101	+	Acute lymphoblastic leukemia(192;6.56e-05)		303			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.907C>A	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	c	0.018	-1.484750	0.01027	.	.	ENSG00000197172	ENST00000329342	T	0.01647	4.71	0.605	-1.21	0.09524	.	.	.	.	.	T	0.01287	0.0042	L	0.31578	0.945	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48736	-0.9009	8	0.24483	T	0.36	.	.	.	.	.	303	P43360	MAGA6_HUMAN	I	303	ENSP00000329199:L303I	ENSP00000329199:L303I	L	+	1	0	MAGEA6	151620873	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.882000	0.04174	-1.244000	0.02516	-1.190000	0.01697	CTC		PASS	0.572	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		92	69	92	69	---	---	---	---
PNCK	139728	broad.mit.edu	37	X	152936585	152936585	+	Silent	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:152936585C>A	ENST00000370150.1	-	8	853	c.675G>T	c.(673-675)ctG>ctT	p.L225L	PNCK_ENST00000340888.3_Silent_p.L225L|PNCK_ENST00000475172.1_5'Flank|PNCK_ENST00000370142.1_Silent_p.L248L|PNCK_ENST00000393831.2_Silent_p.L248L|PNCK_ENST00000370145.4_Silent_p.L242L|PNCK_ENST00000447676.2_Silent_p.L308L			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	225	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.L242L(1)|p.L225L(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGGCCCTCAGGATCTGGC	0.587																																						uc011myu.1																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(922-924)CTG>CTT		pregnancy upregulated non-ubiquitously expressed							72.0	71.0	71.0					X																	152936585		2203	4300	6503	SO:0001819	synonymous_variant	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152936585C>A	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.675G>T	X.37:g.152936585C>A						PNCK_uc011myt.1_Silent_p.L242L|PNCK_uc004fia.2_Silent_p.L260L|PNCK_uc004fhz.3_Silent_p.L123L|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_3'UTR|PNCK_uc011myw.1_3'UTR	p.L308L	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN			8	1110	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		225			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Silent	SNP	ENST00000370150.1	37	c.924G>T																																																																																					PASS	0.587	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		10	100	10	100	---	---	---	---
UBL4A	8266	broad.mit.edu	37	X	153713988	153713988	+	Splice_Site	SNP	C	C	A			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:153713988C>A	ENST00000369660.4	-	4	449	c.364G>T	c.(364-366)Gat>Tat	p.D122Y	UBL4A_ENST00000369653.4_Splice_Site_p.D122Y|UBL4A_ENST00000477777.1_5'UTR	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	122					cellular protein modification process (GO:0006464)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)	small conjugating protein ligase activity (GO:0019787)	p.D122Y(1)		endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCTCGTAATCCTGGGGAGAG	0.607																																					Esophageal Squamous(74;88 1215 11149 34177 46777)	uc004flo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(364-366)GAT>TAT		ubiquitin-like 4							71.0	65.0	67.0					X																	153713988		2203	4300	6503	SO:0001630	splice_region_variant	8266				protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity	g.chrX:153713988C>A	J03589	CCDS14754.1	Xq28	2010-08-05	2005-09-27	2005-09-27	ENSG00000102178	ENSG00000102178			12505	protein-coding gene	gene with protein product		312070	"""ubiquitin-like 4"""	UBL4		2829204, 16872915	Standard	NM_014235		Approved	GDX, DXS254E, GET5, MDY2, TMA24	uc004flo.3	P11441	OTTHUMG00000013370	ENST00000369660.4:c.364-1G>T	X.37:g.153713988C>A							p.D122Y	NM_014235	NP_055050	P11441	UBL4A_HUMAN			4	373	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		122					Q5HY80	Missense_Mutation	SNP	ENST00000369660.4	37	c.364G>T	CCDS14754.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213095	0.58452	.	.	ENSG00000102178	ENST00000369660;ENST00000369653	T;T	0.54479	0.57;0.62	5.25	5.25	0.73442	.	0.100970	0.64402	D	0.000004	T	0.70002	0.3174	M	0.77820	2.39	0.80722	D	1	D	0.76494	0.999	P	0.60789	0.879	T	0.74702	-0.3576	10	0.72032	D	0.01	-19.5202	15.0031	0.71489	0.0:1.0:0.0:0.0	.	122	P11441	UBL4A_HUMAN	Y	122	ENSP00000358674:D122Y;ENSP00000358667:D122Y	ENSP00000358667:D122Y	D	-	1	0	UBL4A	153367182	1.000000	0.71417	0.999000	0.59377	0.106000	0.19336	3.376000	0.52417	2.333000	0.79357	0.529000	0.55759	GAT		PASS	0.607	UBL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037238.2	NM_014235	Missense_Mutation	5	85	5	85	---	---	---	---
EDIL3	10085	broad.mit.edu	37	5	83433136	83433136	+	Frame_Shift_Del	DEL	C	C	-			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr5:83433136delC	ENST00000296591.5	-	5	810	c.392delG	c.(391-393)ggtfs	p.G132fs	EDIL3_ENST00000380138.3_Frame_Shift_Del_p.G122fs	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	132	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		ACATATTCCACCATTTTTGCA	0.358																																						uc003kio.1																			0				skin(2)	2						c.(391-393)GGTfs		EGF-like repeats and discoidin I-like							199.0	175.0	183.0					5																	83433136		2203	4300	6503	SO:0001589	frameshift_variant	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83433136delC	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.392delG	5.37:g.83433136delC	ENSP00000296591:p.Gly132fs					EDIL3_uc003kip.1_Frame_Shift_Del_p.G121fs	p.G131fs	NM_005711	NP_005702	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	5	811	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	131			EGF-like 3.		B2R763|O43855|Q5D094|Q8N610	Frame_Shift_Del	DEL	ENST00000296591.5	37	c.392delG	CCDS4062.1																																																																																					0.358	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		195	87	195	87	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113651071	113651071	+	Frame_Shift_Del	DEL	C	C	-			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr8:113651071delC	ENST00000297405.5	-	21	3624	c.3380delG	c.(3379-3381)ggcfs	p.G1127fs	CSMD3_ENST00000343508.3_Frame_Shift_Del_p.G1087fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.G1127fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.G1023fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1127	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTAAAACTGCCATTCTCTGT	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3379-3381)GGCfs		CUB and Sushi multiple domains 3 isoform 1							117.0	112.0	114.0					8																	113651071		2203	4300	6503	SO:0001589	frameshift_variant	114788					integral to membrane|plasma membrane		g.chr8:113651071delC	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3380delG	8.37:g.113651071delC	ENSP00000297405:p.Gly1127fs	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Frame_Shift_Del_p.G399fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.G1087fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.G1023fs	p.G1127fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			21	3539	-			1127			Extracellular (Potential).|CUB 6.		Q96PZ3	Frame_Shift_Del	DEL	ENST00000297405.5	37	c.3380delG	CCDS6315.1																																																																																					0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		92	59	92	59	---	---	---	---
CCND2	894	broad.mit.edu	37	12	4385331	4385331	+	Frame_Shift_Del	DEL	C	C	-			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr12:4385331delC	ENST00000261254.3	+	2	625	c.356delC	c.(355-357)accfs	p.T119fs	RP11-264F23.4_ENST00000537370.1_RNA|RP11-264F23.3_ENST00000539135.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	119	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			AGCCCGCTGACCGCGGAGAAG	0.582			T	IGL@	"""NHL,CLL"""																																	uc001qmo.2				Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		NHL,CLL		0				haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1)	3						c.(355-357)ACCfs		cyclin D2							67.0	57.0	60.0					12																	4385331		2203	4300	6503	SO:0001589	frameshift_variant	894				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr12:4385331delC	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"""G1/S-specific cyclin D2"""	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.356delC	12.37:g.4385331delC	ENSP00000261254:p.Thr119fs						p.T119fs	NM_001759	NP_001750	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		2	661	+			119			Cyclin N-terminal.		A8K531|Q13955|Q5U035	Frame_Shift_Del	DEL	ENST00000261254.3	37	c.356delC	CCDS8524.1																																																																																					0.582	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		70	77	70	77	---	---	---	---
SEC14L5	9717	broad.mit.edu	37	16	5061152	5061152	+	Frame_Shift_Del	DEL	C	C	-	rs546621651	byFrequency	TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr16:5061152delC	ENST00000251170.7	+	15	2037	c.1857delC	c.(1855-1857)agcfs	p.S619fs	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	619	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						AAATGCACAGCCCCCCCAGCA	0.662																																						uc002cye.2																			0					0						c.(1855-1857)AGCfs		SEC14-like 5							22.0	27.0	25.0					16																	5061152		2022	4185	6207	SO:0001589	frameshift_variant	9717					integral to membrane|intracellular	transporter activity	g.chr16:5061152delC	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1857delC	16.37:g.5061152delC	ENSP00000251170:p.Ser619fs						p.S619fs	NM_014692	NP_055507	O43304	S14L5_HUMAN			15	2037	+			619			GOLD.			Frame_Shift_Del	DEL	ENST00000251170.7	37	c.1857delC	CCDS45403.1																																																																																					0.662	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			18	9	18	9	---	---	---	---
SBNO2	22904	broad.mit.edu	37	19	1109754	1109756	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr19:1109754_1109756delCTC	ENST00000361757.3	-	27	3286_3288	c.3049_3051delGAG	c.(3049-3051)gagdel	p.E1017del	SBNO2_ENST00000587024.1_In_Frame_Del_p.E1007del|SBNO2_ENST00000438103.2_In_Frame_Del_p.E960del	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1017					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGTAGATCTCCTCGATACCG	0.675																																						uc002lrk.3																			0					0						c.(3049-3051)GAGdel		strawberry notch homolog 2 isoform 1			,	1,3717		0,1,1858					,	4.5	1.0			34	0,7870		0,0,3935	no	coding,coding	SBNO2	NM_014963.2,NM_001100122.1	,	0,1,5793	A1A1,A1R,RR		0.0,0.0269,0.0086	,	,		1,11587				SO:0001651	inframe_deletion	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1109754_1109756delCTC	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.3049_3051delGAG	19.37:g.1109757_1109759delCTC	ENSP00000354733:p.Glu1017del					SBNO2_uc002lri.3_5'Flank|SBNO2_uc002lrj.3_In_Frame_Del_p.E960del|SBNO2_uc010dse.2_In_Frame_Del_p.E1000del|SBNO2_uc010xgj.1_Intron	p.E1017del	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	3287_3289	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	1017					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	In_Frame_Del	DEL	ENST00000361757.3	37	c.3049_3051delGAG	CCDS45894.1																																																																																					0.675	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		31	30	31	30	---	---	---	---
RANGAP1	5905	broad.mit.edu	37	22	41642673	41642673	+	Frame_Shift_Del	DEL	G	G	-			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chr22:41642673delG	ENST00000455915.2	-	15	3167	c.1698delC	c.(1696-1698)cccfs	p.P566fs	RANGAP1_ENST00000356244.3_Frame_Shift_Del_p.P566fs|RANGAP1_ENST00000405486.1_Frame_Shift_Del_p.P566fs|RANGAP1_ENST00000407260.4_Frame_Shift_Del_p.P511fs			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	566					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCGCTGTTGGGCCTGCGGG	0.572																																						uc003azs.2																			0					0						c.(1696-1698)CCCfs		Ran GTPase activating protein 1							56.0	45.0	49.0					22																	41642673		2180	4282	6462	SO:0001589	frameshift_variant	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41642673delG	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1698delC	22.37:g.41642673delG	ENSP00000401470:p.Pro566fs					RANGAP1_uc003azt.2_Frame_Shift_Del_p.P566fs|RANGAP1_uc003azu.2_Frame_Shift_Del_p.P566fs|RANGAP1_uc003azr.2_Frame_Shift_Del_p.P79fs|RANGAP1_uc010gyk.2_Frame_Shift_Del_p.P69fs|RANGAP1_uc011aoz.1_Frame_Shift_Del_p.P511fs	p.P566fs	NM_002883	NP_002874	P46060	RAGP1_HUMAN			15	3168	-			566					Q96JJ2	Frame_Shift_Del	DEL	ENST00000455915.2	37	c.1698delC	CCDS14012.1																																																																																					0.572	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		5	7	5	7	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34148575	34148575	+	Frame_Shift_Del	DEL	T	T	-			TCGA-60-2698-01A-01D-1522-08	TCGA-60-2698-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2045c788-9ea8-4ea5-a5e3-65fc16a62adb	059e5a0f-ca79-4cac-b2a9-f39bb8d44206	g.chrX:34148575delT	ENST00000346193.3	-	1	1872	c.1821delA	c.(1819-1821)aaafs	p.K607fs		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	607										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ATTCACGGAGTTTTTCCGATG	0.443																																						uc004ddg.2																			0				ovary(4)|central_nervous_system(1)	5						c.(1819-1821)AAAfs		hypothetical protein LOC158724							81.0	75.0	77.0					X																	34148575		2127	4252	6379	SO:0001589	frameshift_variant	158724							g.chrX:34148575delT	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1821delA	X.37:g.34148575delT	ENSP00000345029:p.Lys607fs						p.K607fs	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1854	-			607					A8K8I9|Q8TAA0	Frame_Shift_Del	DEL	ENST00000346193.3	37	c.1821delA	CCDS43926.1																																																																																					0.443	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		50	47	50	47	---	---	---	---
