#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
ACTRT2	140625	broad.mit.edu	37	1	2938330	2938330	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:2938330G>T	ENST00000378404.2	+	1	285	c.80G>T	c.(79-81)gGg>gTg	p.G27V		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	27						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G27V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGCCTGTCTGGGGAGTTTGGA	0.577																																						uc001ajz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(79-81)GGG>GTG		actin-related protein M2							37.0	40.0	39.0					1																	2938330		2203	4300	6503	SO:0001583	missense	140625					cytoplasm|cytoskeleton		g.chr1:2938330G>T	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.80G>T	1.37:g.2938330G>T	ENSP00000367658:p.Gly27Val						p.G27V	NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	285	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	27					B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	ENST00000378404.2	37	c.80G>T	CCDS45.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659800	0.47572	.	.	ENSG00000169717	ENST00000378404;ENST00000543312	D	0.96651	-4.08	5.03	4.12	0.48240	.	0.000000	0.56097	D	0.000035	D	0.98642	0.9545	H	0.97758	4.07	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.98834	1.0752	10	0.87932	D	0	.	11.9133	0.52751	0.0854:0.0:0.9146:0.0	.	27	Q8TDY3	ACTT2_HUMAN	V	27	ENSP00000367658:G27V	ENSP00000367658:G27V	G	+	2	0	ACTRT2	2928190	1.000000	0.71417	0.012000	0.15200	0.043000	0.13939	9.656000	0.98514	1.114000	0.41781	0.561000	0.74099	GGG		PASS	0.577	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		4	27	4	27	---	---	---	---
MEGF6	1953	broad.mit.edu	37	1	3527813	3527813	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:3527813G>T	ENST00000356575.4	-	1	246	c.20C>A	c.(19-21)gCg>gAg	p.A7E		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	7						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.A7E(1)		cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CGCTGCCCTCGCCTCTTCAAG	0.776																																					Ovarian(73;978 3658)	uc001akl.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(19-21)GCG>GAG		EGF-like-domain, multiple 3 precursor							6.0	9.0	8.0					1																	3527813		1745	3812	5557	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3527813G>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.20C>A	1.37:g.3527813G>T	ENSP00000348982:p.Ala7Glu						p.A7E	NM_001409	NP_001400	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	1	247	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	7					Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.20C>A	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319433	0.23994	.	.	ENSG00000162591	ENST00000356575	D	0.85484	-1.99	2.34	2.34	0.29019	.	.	.	.	.	T	0.74543	0.3730	N	0.08118	0	0.19300	N	0.999972	D	0.53619	0.961	P	0.48334	0.574	T	0.65681	-0.6109	9	0.66056	D	0.02	-0.92	8.2613	0.31786	0.0:0.0:1.0:0.0	.	7	O75095	MEGF6_HUMAN	E	7	ENSP00000348982:A7E	ENSP00000348982:A7E	A	-	2	0	MEGF6	3517673	0.036000	0.19791	0.442000	0.26870	0.027000	0.11550	0.580000	0.23803	1.631000	0.50456	0.313000	0.20887	GCG		PASS	0.776	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		4	4	4	4	---	---	---	---
MFAP2	4237	broad.mit.edu	37	1	17298869	17298869	+	IGR	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:17298869G>T	ENST00000375535.3	-	0	1260				MFAP2_ENST00000490075.1_5'Flank|CROCC_ENST00000375541.5_Missense_Mutation_p.K1994N			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2						extracellular matrix organization (GO:0030198)|platelet formation (GO:0030220)	extracellular region (GO:0005576)|microfibril (GO:0001527)		p.K1994N(1)		kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCACACTGAAGGGCCAGCTGC	0.627																																						uc001azt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)	5						c.(5980-5982)AAG>AAT		ciliary rootlet coiled-coil							63.0	62.0	63.0					1																	17298869		2203	4300	6503	SO:0001628	intergenic_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17298869G>T	BC015039	CCDS174.1, CCDS44071.1	1p36.1-p35	2008-02-05			ENSG00000117122	ENSG00000117122			7033	protein-coding gene	gene with protein product		156790				7759096	Standard	NM_017459		Approved	MAGP, MAGP-1	uc001azw.3	P55001	OTTHUMG00000002290		1.37:g.17298869G>T						CROCC_uc001azu.2_Missense_Mutation_p.K1290N|CROCC_uc001azv.2_Missense_Mutation_p.K330N	p.K1994N	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	37	6051	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1994			Gln-rich.		Q53X60|Q5JXY0	Missense_Mutation	SNP	ENST00000375535.3	37	c.5982G>T	CCDS174.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262390	0.80358	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.17213	2.29	4.14	4.14	0.48551	.	.	.	.	.	T	0.42854	0.1221	M	0.77103	2.36	0.51233	D	0.999919	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.45963	-0.9225	9	0.72032	D	0.01	.	14.6984	0.69139	0.0:0.0:1.0:0.0	.	1875;1290;1994	B1AKD8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	N	1994;1875	ENSP00000364691:K1994N	ENSP00000364691:K1994N	K	+	3	2	CROCC	17171456	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.690000	0.74567	2.261000	0.74972	0.511000	0.50034	AAG		PASS	0.627	MFAP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006609.1	NM_002403		9	21	9	21	---	---	---	---
MYOM3	127294	broad.mit.edu	37	1	24383919	24383919	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:24383919T>C	ENST00000374434.3	-	37	4411	c.4249A>G	c.(4249-4251)Acg>Gcg	p.T1417A	MYOM3_ENST00000330966.7_Missense_Mutation_p.T1420A|MYOM3_ENST00000338909.5_Missense_Mutation_p.T310A|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1417	Ig-like C2-type 4.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.T1417A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ACCTGGCCCGTCTCGGAGCCA	0.567																																						uc001bin.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(4249-4251)ACG>GCG		myomesin family, member 3							87.0	87.0	87.0					1																	24383919		2080	4198	6278	SO:0001583	missense	127294							g.chr1:24383919T>C	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.4249A>G	1.37:g.24383919T>C	ENSP00000363557:p.Thr1417Ala					MYOM3_uc001bil.3_Missense_Mutation_p.T310A|MYOM3_uc001bim.3_Missense_Mutation_p.T1074A	p.T1417A	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	37	4412	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1417			Ig-like C2-type 4.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.4249A>G	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.275938	0.40294	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.69435	-0.4;-0.4;-0.4	5.24	4.12	0.48240	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.057534	0.64402	D	0.000002	T	0.56108	0.1963	L	0.52823	1.66	0.80722	D	1	B;B	0.33826	0.427;0.131	B;B	0.32022	0.139;0.1	T	0.54721	-0.8251	10	0.30078	T	0.28	.	7.8767	0.29597	0.0:0.1563:0.0:0.8437	.	1417;310	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	A	310;1417;1420;311	ENSP00000342689:T310A;ENSP00000363557:T1417A;ENSP00000332670:T1420A	ENSP00000332670:T1420A	T	-	1	0	MYOM3	24256506	1.000000	0.71417	0.970000	0.41538	0.971000	0.66376	4.172000	0.58243	1.972000	0.57404	0.533000	0.62120	ACG		PASS	0.567	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		4	16	4	16	---	---	---	---
DLGAP3	58512	broad.mit.edu	37	1	35334339	35334339	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:35334339G>T	ENST00000373347.1	-	9	2620	c.2352C>A	c.(2350-2352)gaC>gaA	p.D784E	DLGAP3_ENST00000235180.4_Missense_Mutation_p.D784E			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	784					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.D784E(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CGCGGCCTGAGTCGGGGAGGC	0.721																																						uc001byc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2350-2352)GAC>GAA		discs, large (Drosophila) homolog-associated							31.0	31.0	31.0					1																	35334339		2203	4300	6503	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35334339G>T	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.2352C>A	1.37:g.35334339G>T	ENSP00000362444:p.Asp784Glu						p.D784E	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			7	2352	-		Myeloproliferative disorder(586;0.0393)	784					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.2352C>A	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771885	0.31320	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.24723	1.84;1.84	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	N	0.10874	0.06	0.51233	D	0.99991	B	0.28470	0.213	B	0.40982	0.345	T	0.12656	-1.0539	10	0.02654	T	1	-21.7912	9.3589	0.38184	0.156:0.0:0.844:0.0	.	784	O95886	DLGP3_HUMAN	E	784	ENSP00000362444:D784E;ENSP00000235180:D784E	ENSP00000235180:D784E	D	-	3	2	DLGAP3	35106926	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.530000	0.67141	2.633000	0.89246	0.655000	0.94253	GAC		PASS	0.721	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		3	14	3	14	---	---	---	---
EPHA10	284656	broad.mit.edu	37	1	38227319	38227319	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:38227319G>T	ENST00000373048.4	-	3	607	c.608C>A	c.(607-609)tCg>tAg	p.S203*	EPHA10_ENST00000319637.6_Nonsense_Mutation_p.S203*|EPHA10_ENST00000427468.2_Nonsense_Mutation_p.S203*	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	203	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.S203*(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GACGCGCACCGAGACAAGCGC	0.662																																						uc009vvi.2																			1	Substitution - Nonsense(1)		lung(1)	breast(4)|stomach(3)|lung(1)	8						c.(607-609)TCG>TAG		EPH receptor A10 isofom 3							27.0	32.0	31.0					1																	38227319		2202	4297	6499	SO:0001587	stop_gained	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227319G>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.608C>A	1.37:g.38227319G>T	ENSP00000362139:p.Ser203*					EPHA10_uc001cbw.3_Nonsense_Mutation_p.S203*	p.S203*	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			3	694	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	203			Extracellular (Potential).		A4FU89|J3KPB5|Q6NW42	Nonsense_Mutation	SNP	ENST00000373048.4	37	c.608C>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297848	0.81025	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	.	.	.	4.52	4.52	0.55395	.	0.000000	0.40554	N	0.001071	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7445	0.85468	0.0:0.0:1.0:0.0	.	.	.	.	X	203	.	ENSP00000316395:S203X	S	-	2	0	EPHA10	37999906	1.000000	0.71417	0.939000	0.37840	0.464000	0.32679	9.511000	0.98006	2.476000	0.83614	0.637000	0.83480	TCG		PASS	0.662	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		7	13	7	13	---	---	---	---
C8B	732	broad.mit.edu	37	1	57422559	57422559	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:57422559G>A	ENST00000371237.4	-	3	340	c.274C>T	c.(274-276)Ccc>Tcc	p.P92S	C8B_ENST00000535057.1_Missense_Mutation_p.P30S|C8B_ENST00000543257.1_Missense_Mutation_p.P40S	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	92	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.P92S(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AACTGAGAGGGCTGGAGCAAG	0.507																																						uc001cyp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(274-276)CCC>TCC		complement component 8, beta polypeptide							131.0	121.0	125.0					1																	57422559		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57422559G>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.274C>T	1.37:g.57422559G>A	ENSP00000360281:p.Pro92Ser					C8B_uc010oon.1_Missense_Mutation_p.P30S|C8B_uc010ooo.1_Missense_Mutation_p.P40S	p.P92S	NM_000066	NP_000057	P07358	CO8B_HUMAN			3	341	-			92			TSP type-1 1.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.274C>T	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403460	0.62288	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.29917	2.11;2.11;1.55	5.32	5.32	0.75619	.	0.053384	0.85682	D	0.000000	T	0.54159	0.1841	M	0.87682	2.9	0.51233	D	0.999918	D;D;P	0.64830	0.994;0.994;0.91	P;P;P	0.60949	0.844;0.881;0.469	T	0.54309	-0.8313	10	0.16420	T	0.52	-18.6771	14.5719	0.68218	0.0:0.1461:0.8539:0.0	.	40;30;92	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	S	92;40;30	ENSP00000360281:P92S;ENSP00000442548:P40S;ENSP00000440113:P30S	ENSP00000360281:P92S	P	-	1	0	C8B	57195147	1.000000	0.71417	0.965000	0.40720	0.247000	0.25773	5.211000	0.65219	2.665000	0.90641	0.585000	0.79938	CCC		PASS	0.507	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			18	57	18	57	---	---	---	---
TM2D1	83941	broad.mit.edu	37	1	62190775	62190775	+	Silent	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:62190775C>A	ENST00000606498.1	-	1	38	c.18G>T	c.(16-18)ccG>ccT	p.P6P	TM2D1_ENST00000371180.2_Silent_p.P68P|TM2D1_ENST00000294613.5_Silent_p.P6P|TM2D1_ENST00000371177.2_Silent_p.P6P			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	6					apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)	p.P6P(1)|p.P68P(1)		large_intestine(2)|lung(3)|ovary(1)	6						ACGGACCAGACGGCCAGGCGG	0.667																																						uc001czz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(16-18)CCG>CCT		beta-amyloid binding protein precursor							35.0	42.0	40.0					1																	62190775		1914	4094	6008	SO:0001819	synonymous_variant	83941				apoptosis			g.chr1:62190775C>A	AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.18G>T	1.37:g.62190775C>A							p.P6P	NM_032027	NP_114416	Q9BX74	TM2D1_HUMAN			1	321	-			6					A6NDA8	Silent	SNP	ENST00000606498.1	37	c.18G>T																																																																																					PASS	0.667	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470779.2	NM_032027		6	32	6	32	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62228831	62228831	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:62228831A>G	ENST00000371158.2	+	3	283	c.169A>G	c.(169-171)Atc>Gtc	p.I57V	INADL_ENST00000316485.6_Missense_Mutation_p.I57V	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	57	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.I57V(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TCAGCAGTCCATCAAGCAACT	0.373																																						uc001dab.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(169-171)ATC>GTC		InaD-like							61.0	57.0	58.0					1																	62228831		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62228831A>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.169A>G	1.37:g.62228831A>G	ENSP00000360200:p.Ile57Val					INADL_uc009waf.1_Missense_Mutation_p.I57V|INADL_uc001daa.2_Missense_Mutation_p.I57V	p.I57V	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			3	283	+			57			L27.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.169A>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	A	5.030	0.191156	0.09547	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.11604	2.87;2.76	5.37	4.21	0.49690	L27 (2);L27-2 (1);	0.000000	0.64402	D	0.000002	T	0.09774	0.0240	L	0.29908	0.895	0.80722	D	1	B;P;B	0.37061	0.254;0.58;0.427	B;B;B	0.41723	0.109;0.365;0.132	T	0.20273	-1.0280	10	0.12103	T	0.63	.	12.2818	0.54767	0.8579:0.1421:0.0:0.0	.	57;57;57	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	V	57	ENSP00000360200:I57V;ENSP00000326199:I57V	ENSP00000255202:I57V	I	+	1	0	INADL	62001419	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.799000	0.55529	0.829000	0.34733	0.477000	0.44152	ATC		PASS	0.373	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		8	26	8	26	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94497571	94497571	+	Silent	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:94497571G>A	ENST00000370225.3	-	27	3977	c.3891C>T	c.(3889-3891)gtC>gtT	p.V1297V		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1297					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.V1297V(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTCGGGGGTTGACGTTTTCTC	0.512																																						uc001dqh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(3889-3891)GTC>GTT		ATP-binding cassette, sub-family A member 4							61.0	69.0	66.0					1																	94497571		2203	4299	6502	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94497571G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3891C>T	1.37:g.94497571G>A							p.V1297V	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	27	3995	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1297			Cytoplasmic.		O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.3891C>T	CCDS747.1																																																																																				PASS	0.512	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		5	77	5	77	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103444262	103444262	+	Splice_Site	SNP	A	A	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:103444262A>G	ENST00000370096.3	-	35	3067		c.e35+1		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000358392.2_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						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.?(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)		TATCATACGTACTCTTTCACC	0.383																																						uc001dul.2																			2	Unknown(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.e35+1		alpha 1 type XI collagen isoform A							96.0	113.0	107.0					1																	103444262		2201	4299	6500	SO:0001630	splice_region_variant	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.chr1:103444262A>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.2754+1T>C	1.37:g.103444262A>G						COL11A1_uc001duk.2_Splice_Site_p.R114_splice|COL11A1_uc001dum.2_Splice_Site_p.R930_splice|COL11A1_uc001dun.2_Splice_Site_p.R879_splice|COL11A1_uc009weh.2_Splice_Site_p.R802_splice	p.R918_splice	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	35	3072	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)						B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37	c.2754_splice	CCDS778.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.528511	0.85706	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3337	0.74234	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A1	103216850	1.000000	0.71417	0.989000	0.46669	0.949000	0.60115	8.783000	0.91813	2.027000	0.59764	0.533000	0.62120	.		PASS	0.383	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Intron	22	89	22	89	---	---	---	---
GSTM3	2947	broad.mit.edu	37	1	110280086	110280086	+	Missense_Mutation	SNP	C	C	A	rs1803686		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:110280086C>A	ENST00000540225.1	-	8	882	c.572G>T	c.(571-573)cGt>cTt	p.R191L	RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000256594.3_Missense_Mutation_p.R191L|GSTM3_ENST00000488824.1_5'UTR|GSTM3_ENST00000361066.2_Missense_Mutation_p.R191L			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	191	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.R191L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)|Vitamin E(DB00163)	CACCTCAAAACGGCACATGAA	0.478																																						uc001dyo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(571-573)CGT>CTT		glutathione S-transferase mu 3	Glutathione(DB00143)						65.0	66.0	66.0					1																	110280086		2203	4300	6503	SO:0001583	missense	2947				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding	g.chr1:110280086C>A	BC000088	CCDS812.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134202	ENSG00000134202	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4635	protein-coding gene	gene with protein product		138390	"""glutathione S-transferase M3 (brain)"""			2345169	Standard	NM_000849		Approved	GST5	uc001dyo.2	P21266	OTTHUMG00000011640	ENST00000540225.1:c.572G>T	1.37:g.110280086C>A	ENSP00000444978:p.Arg191Leu					GSTM3_uc001dyp.2_Missense_Mutation_p.R188L|GSTM3_uc010ovv.1_Missense_Mutation_p.R191L	p.R191L	NM_000849	NP_000840	P21266	GSTM3_HUMAN		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	8	882	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	191			GST C-terminal.		O60550|Q96HA3	Missense_Mutation	SNP	ENST00000540225.1	37	c.572G>T	CCDS812.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537742	0.85917	.	.	ENSG00000134202	ENST00000540225;ENST00000256594;ENST00000361066	T;T;T	0.06528	3.29;3.29;3.29	5.43	4.52	0.55395	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.103173	0.64402	D	0.000002	T	0.28499	0.0705	H	0.97340	3.985	0.58432	D	0.999999	P;D;P	0.69078	0.95;0.997;0.95	P;D;P	0.70487	0.507;0.969;0.507	T	0.51616	-0.8683	10	0.87932	D	0	-18.2483	13.0761	0.59087	0.0:0.922:0.0:0.078	.	191;197;191	Q6FGJ9;Q59EJ5;P21266	.;.;GSTM3_HUMAN	L	191	ENSP00000444978:R191L;ENSP00000256594:R191L;ENSP00000354357:R191L	ENSP00000256594:R191L	R	-	2	0	GSTM3	110081609	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.090000	0.57693	1.523000	0.49018	0.655000	0.94253	CGT		PASS	0.478	GSTM3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032182.1	NM_000849		8	23	8	23	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111964252	111964252	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:111964252T>G	ENST00000369732.3	-	7	707	c.652A>C	c.(652-654)Agt>Cgt	p.S218R	OVGP1_ENST00000540696.1_Intron|OVGP1_ENST00000481495.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	218					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.S282R(1)|p.S218R(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CTTTCCCAACTTCCATGTAAG	0.458																																						uc001eba.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(652-654)AGT>CGT		oviductal glycoprotein 1 precursor							96.0	99.0	98.0					1																	111964252		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111964252T>G	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.652A>C	1.37:g.111964252T>G	ENSP00000358747:p.Ser218Arg					OVGP1_uc001eaz.2_Missense_Mutation_p.S180R|OVGP1_uc010owb.1_Intron	p.S218R	NM_002557	NP_002548	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	7	708	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	218					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.652A>C	CCDS834.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.866055	0.32977	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.06068	3.35	5.08	2.69	0.31865	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.357322	0.34178	N	0.004189	T	0.17534	0.0421	M	0.91818	3.245	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.01192	-1.1423	10	0.72032	D	0.01	-8.2686	8.3773	0.32451	0.539:0.0:0.0:0.461	.	218;282	Q12889;Q59HH5	OVGP1_HUMAN;.	R	218;282;26	ENSP00000358747:S218R	ENSP00000358743:S282R	S	-	1	0	OVGP1	111765775	0.597000	0.26874	0.998000	0.56505	0.174000	0.22865	-0.372000	0.07504	0.365000	0.24400	-0.669000	0.03829	AGT		PASS	0.458	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		3	28	3	28	---	---	---	---
MAB21L3	126868	broad.mit.edu	37	1	116670900	116670900	+	Silent	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:116670900C>T	ENST00000369500.3	+	6	1060	c.795C>T	c.(793-795)caC>caT	p.H265H		NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	265								p.H265H(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						TCATGAGGCACCTGAAGGAGG	0.582																																						uc001egc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(793-795)CAC>CAT		hypothetical protein LOC126868							62.0	57.0	58.0					1																	116670900		2203	4300	6503	SO:0001819	synonymous_variant	126868							g.chr1:116670900C>T	AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 161"""	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.795C>T	1.37:g.116670900C>T							p.H265H	NM_152367	NP_689580	Q8N8X9	MB213_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	6	1060	+	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)	265					Q5TDL7	Silent	SNP	ENST00000369500.3	37	c.795C>T	CCDS886.1																																																																																				PASS	0.582	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033486.1	NM_152367		4	5	4	5	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118640417	118640417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:118640417C>T	ENST00000336338.5	-	7	952	c.887G>A	c.(886-888)tGg>tAg	p.W296*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	296						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.W296*(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)		CAAGTACTTCCAGAAAGTTTT	0.338																																						uc001ehk.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(886-888)TGG>TAG		sperm associated antigen 17							145.0	137.0	140.0					1																	118640417		2203	4300	6503	SO:0001587	stop_gained	200162					cilium|flagellar axoneme|microtubule		g.chr1:118640417C>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.887G>A	1.37:g.118640417C>T	ENSP00000337804:p.Trp296*						p.W296*	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	7	955	-	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)	296					Q8NAZ1|Q9NT21	Nonsense_Mutation	SNP	ENST00000336338.5	37	c.887G>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	35	5.473420	0.96274	.	.	ENSG00000155761	ENST00000336338	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9657	0.92695	0.0:1.0:0.0:0.0	.	.	.	.	X	296	.	ENSP00000337804:W296X	W	-	2	0	SPAG17	118441940	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	6.198000	0.72106	2.454000	0.82982	0.650000	0.86243	TGG		PASS	0.338	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		7	35	7	35	---	---	---	---
NBPF14	25832	broad.mit.edu	37	1	148004707	148004708	+	Missense_Mutation	DNP	GT	GT	AC	rs371599058|rs200993524	byFrequency	TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:148004707_148004708GT>AC	ENST00000369219.1	-	22	2622_2623	c.2606_2607AC>GT	c.(2605-2607)tAC>tGT	p.Y869C				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	869	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.Y869C(2)|p.Y869Y(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GTAGTTCAAAGTACATTGACGG	0.431																																						uc001eqq.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(2605-2607)TAC>TAT|c.(2605-2607)TAC>TGC		hypothetical protein LOC25832																																				SO:0001583	missense	25832					cytoplasm		g.chr1:148004707G>A|g.chr1:148004708T>C	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2606_2607delinsAC	1.37:g.148004707_148004708delinsAC	ENSP00000358221:p.Tyr869Cys					LOC200030_uc010ozz.1_Intron|LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Silent_p.Y217Y|NBPF14_uc010pac.1_Silent_p.Y442Y|LOC200030_uc010ozz.1_Intron|LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Missense_Mutation_p.Y217C|NBPF14_uc010pac.1_Missense_Mutation_p.Y442C	p.Y869Y|p.Y869C	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN			22	2624|2623	-	all_hematologic(923;0.032)		869			NBPF 10.		Q5TI23|Q8IX76|Q9UJI9	Silent|Missense_Mutation	SNP	ENST00000369219.1	37	c.2607C>T|c.2606A>G																																																																																					PASS	0.431	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		75|76	129|122	75	122	---	---	---	---
KPRP	448834	broad.mit.edu	37	1	152732580	152732580	+	Silent	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:152732580C>T	ENST00000606109.1	+	1	544	c.516C>T	c.(514-516)tgC>tgT	p.C172C	KPRP_ENST00000368773.1_Silent_p.C172C			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	172	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.C172C(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCAGTGTGCCAGCCTCAGG	0.522																																						uc001fal.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(514-516)TGC>TGT		keratinocyte proline-rich protein							119.0	121.0	120.0					1																	152732580		2203	4300	6503	SO:0001819	synonymous_variant	448834					cytoplasm		g.chr1:152732580C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.516C>T	1.37:g.152732580C>T							p.C172C	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	574	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		172			Gln-rich.			Silent	SNP	ENST00000606109.1	37	c.516C>T	CCDS30862.1																																																																																				PASS	0.522	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		4	84	4	84	---	---	---	---
MTX1	4580	broad.mit.edu	37	1	155180357	155180357	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:155180357G>A	ENST00000368376.3	+	3	723	c.617G>A	c.(616-618)cGg>cAg	p.R206Q	MTX1_ENST00000316721.4_Missense_Mutation_p.R206Q|THBS3_ENST00000457183.2_5'Flank|MTX1_ENST00000609421.1_Missense_Mutation_p.R57Q|THBS3_ENST00000486260.1_5'Flank|THBS3_ENST00000541990.1_5'Flank|RP11-263K19.6_ENST00000455788.1_RNA|THBS3_ENST00000368378.3_5'Flank	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	206					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)		p.R206Q(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTGCCCTTCGGACCAGTCAT	0.493																																						uc001fjb.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(616-618)CGG>CAG		metaxin 1 isoform 1							209.0	197.0	201.0					1																	155180357		2203	4300	6503	SO:0001583	missense	4580				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding	g.chr1:155180357G>A		CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708	ENST00000368376.3:c.617G>A	1.37:g.155180357G>A	ENSP00000357360:p.Arg206Gln					RAG1AP1_uc010pey.1_Intron|THBS3_uc001fix.2_5'Flank|THBS3_uc009wqi.2_5'Flank|THBS3_uc001fiz.2_5'Flank|THBS3_uc001fiy.2_5'Flank|THBS3_uc010pfu.1_5'Flank|THBS3_uc010pfv.1_5'Flank|THBS3_uc001fja.2_5'Flank|THBS3_uc009wqj.1_5'Flank|MTX1_uc001fjc.2_Missense_Mutation_p.R206Q	p.R206Q	NM_002455	NP_002446	Q13505	MTX1_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	723	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		206					B1AVR9|B1AVS0|B2R9P4|Q9BUU3	Missense_Mutation	SNP	ENST00000368376.3	37	c.617G>A	CCDS1100.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580483	0.65992	.	.	ENSG00000173171	ENST00000368376;ENST00000316721	T;T	0.34667	1.43;1.35	5.8	1.91	0.25777	.	0.215245	0.42548	N	0.000681	T	0.24470	0.0593	L	0.34521	1.04	0.35083	D	0.763603	D;D	0.76494	0.996;0.999	P;P	0.60886	0.75;0.88	T	0.05566	-1.0877	10	0.39692	T	0.17	-24.7551	7.4666	0.27324	0.4038:0.0:0.5962:0.0	.	206;206	Q13505-2;Q13505	.;MTX1_HUMAN	Q	206	ENSP00000357360:R206Q;ENSP00000317106:R206Q	ENSP00000317106:R206Q	R	+	2	0	MTX1	153446981	0.998000	0.40836	0.992000	0.48379	0.970000	0.65996	0.943000	0.29030	0.397000	0.25310	-0.253000	0.11424	CGG		PASS	0.493	MTX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086844.1	NM_198883		24	210	24	210	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156513993	156513993	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:156513993C>T	ENST00000361170.2	-	21	2421	c.2411G>A	c.(2410-2412)tGg>tAg	p.W804*		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	804	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.W804*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCGAGCTGCCCACATCCGGGC	0.572																																						uc001fpf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|skin(1)	6						c.(2410-2412)TGG>TAG		IQ motif containing GTPase activating protein 3							95.0	86.0	89.0					1																	156513993		2203	4300	6503	SO:0001587	stop_gained	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156513993C>T	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2411G>A	1.37:g.156513993C>T	ENSP00000354451:p.Trp804*						p.W804*	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			21	2486	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		804			IQ 3.		Q5T3H8	Nonsense_Mutation	SNP	ENST00000361170.2	37	c.2411G>A	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	40	8.467533	0.98825	.	.	ENSG00000183856	ENST00000361170	.	.	.	5.03	5.03	0.67393	.	0.065441	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-11.4406	17.1052	0.86660	0.0:1.0:0.0:0.0	.	.	.	.	X	804	.	ENSP00000354451:W804X	W	-	2	0	IQGAP3	154780617	0.882000	0.30256	1.000000	0.80357	0.973000	0.67179	1.217000	0.32455	2.630000	0.89119	0.561000	0.74099	TGG		PASS	0.572	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		9	108	9	108	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158614075	158614075	+	Silent	SNP	G	G	T	rs570224404		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:158614075G>T	ENST00000368147.4	-	30	4486	c.4306C>A	c.(4306-4308)Cgg>Agg	p.R1436R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1436					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.R1436R(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)					AAATCGTCCCGTTTCTTCATC	0.398																																						uc001fst.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4306-4308)CGG>AGG		spectrin, alpha, erythrocytic 1							103.0	99.0	100.0					1																	158614075		1909	4114	6023	SO:0001819	synonymous_variant	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.chr1:158614075G>T	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.4306C>A	1.37:g.158614075G>T							p.R1436R	NM_003126	NP_003117	P02549	SPTA1_HUMAN			30	4505	-	all_hematologic(112;0.0378)		1436			Spectrin 14.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.4306C>A	CCDS41423.1																																																																																				PASS	0.398	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		21	50	21	50	---	---	---	---
OR6K6	128371	broad.mit.edu	37	1	158725206	158725206	+	Missense_Mutation	SNP	C	C	A	rs375044145		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:158725206C>A	ENST00000368144.2	+	1	697	c.601C>A	c.(601-603)Cag>Aag	p.Q201K		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q201K(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGGCTCCAACCAGATCCACCA	0.488																																						uc001fsw.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(601-603)CAG>AAG		olfactory receptor, family 6, subfamily K,		C	LYS/GLN	0,4406		0,0,2203	122.0	101.0	108.0		601	0.2	0.0	1		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR6K6	NM_001005184.1	53	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	201/344	158725206	1,13005	2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725206C>A	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.601C>A	1.37:g.158725206C>A	ENSP00000357126:p.Gln201Lys						p.Q201K	NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN			1	601	+	all_hematologic(112;0.0378)		201			Extracellular (Potential).		B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.601C>A	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	C	6.163	0.398346	0.11696	0.0	1.16E-4	ENSG00000180433	ENST00000368144	T	0.00084	8.75	5.48	0.192	0.15134	GPCR, rhodopsin-like superfamily (1);	1.069190	0.07375	N	0.886392	T	0.00039	0.0001	N	0.26130	0.795	0.09310	N	1	B	0.14805	0.011	B	0.17979	0.02	T	0.38650	-0.9651	10	0.05620	T	0.96	0.1304	5.974	0.19369	0.221:0.2374:0.4722:0.0694	.	201	Q8NGW6	OR6K6_HUMAN	K	201	ENSP00000357126:Q201K	ENSP00000357126:Q201K	Q	+	1	0	OR6K6	156991830	0.000000	0.05858	0.005000	0.12908	0.971000	0.66376	-1.259000	0.02861	-0.108000	0.12066	0.655000	0.94253	CAG		PASS	0.488	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		37	52	37	52	---	---	---	---
SELP	6403	broad.mit.edu	37	1	169580755	169580755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:169580755C>T	ENST00000263686.6	-	7	1159	c.1122G>A	c.(1120-1122)tgG>tgA	p.W374*	SELP_ENST00000367794.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Nonsense_Mutation_p.W312*|SELP_ENST00000367786.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367793.2_Nonsense_Mutation_p.W312*|SELP_ENST00000367792.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	374	Sushi 3. {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.W374*(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)	AGGGTGCAGACCAGTGTCCAG	0.527																																						uc001ggi.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1120-1122)TGG>TGA		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						90.0	87.0	88.0					1																	169580755		2203	4300	6503	SO:0001587	stop_gained	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.chr1:169580755C>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.1122G>A	1.37:g.169580755C>T	ENSP00000263686:p.Trp374*					SELP_uc001ggh.2_Nonsense_Mutation_p.W209*|SELP_uc009wvr.2_Nonsense_Mutation_p.W374*	p.W374*	NM_003005	NP_002996	P16109	LYAM3_HUMAN			7	1187	-	all_hematologic(923;0.208)		374			Sushi 3.|Extracellular (Potential).		Q5R344|Q8IVD1	Nonsense_Mutation	SNP	ENST00000263686.6	37	c.1122G>A	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	C	35	5.489906	0.96339	.	.	ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367788	.	.	.	5.11	3.25	0.37280	.	0.243486	0.29956	N	0.010770	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.1827	8.7297	0.34491	0.0:0.8234:0.0:0.1766	.	.	.	.	X	374;373;374;374;312;312	.	ENSP00000263686:W374X	W	-	3	0	SELP	167847379	0.997000	0.39634	0.510000	0.27712	0.557000	0.35523	3.139000	0.50577	0.557000	0.29117	0.655000	0.94253	TGG		PASS	0.527	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		5	59	5	59	---	---	---	---
SERPINC1	462	broad.mit.edu	37	1	173883896	173883896	+	Nonsense_Mutation	SNP	G	G	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:173883896G>C	ENST00000367698.3	-	2	321	c.203C>G	c.(202-204)tCa>tGa	p.S68*	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	68					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S68*(1)		NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	CTTCTGTTCTGAGCCCTCATC	0.572											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gjt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(202-204)TCA>TGA		serpin peptidase inhibitor, clade C, member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						144.0	143.0	143.0					1																	173883896		2203	4300	6503	SO:0001587	stop_gained	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173883896G>C	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.203C>G	1.37:g.173883896G>C	ENSP00000356671:p.Ser68*		OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1911		p.S68*	NM_000488	NP_000479	P01008	ANT3_HUMAN			2	322	-			68					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Nonsense_Mutation	SNP	ENST00000367698.3	37	c.203C>G	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793545	0.90453	.	.	ENSG00000117601	ENST00000367698;ENST00000351522	.	.	.	5.67	1.71	0.24356	.	1.194960	0.05885	N	0.627107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	4.3115	0.10972	0.3733:0.0:0.3948:0.232	.	.	.	.	X	68	.	ENSP00000307953:S68X	S	-	2	0	SERPINC1	172150519	0.005000	0.15991	0.023000	0.16930	0.941000	0.58515	0.659000	0.24994	0.063000	0.16370	0.561000	0.74099	TCA		PASS	0.572	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		5	132	5	132	---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198668783	198668783	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:198668783C>A	ENST00000367376.2	+	5	554	c.383C>A	c.(382-384)tCc>tAc	p.S128Y	PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.S128Y|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.S130Y	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	128					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S128Y(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTCAGCGGCTCCGCCGCCAAT	0.532											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gur.1																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(382-384)TCC>TAC		protein tyrosine phosphatase, receptor type, C							107.0	112.0	110.0					1																	198668783		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198668783C>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.383C>A	1.37:g.198668783C>A	ENSP00000356346:p.Ser128Tyr		OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2100	PTPRC_uc001gus.1_Missense_Mutation_p.S128Y|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Missense_Mutation_p.S64Y|PTPRC_uc009wzf.1_Missense_Mutation_p.S64Y|PTPRC_uc010ppg.1_Missense_Mutation_p.S64Y|PTPRC_uc001guu.1_Missense_Mutation_p.S171Y|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_RNA	p.S128Y	NM_002838	NP_002829	P08575	PTPRC_HUMAN			5	563	+			128			Extracellular (Potential).		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.383C>A		.	.	.	.	.	.	.	.	.	.	C	3.612	-0.079322	0.07141	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000271610;ENST00000530727;ENST00000442510;ENST00000367367	T;T;T;T	0.20332	4.05;2.08;3.96;3.09	5.21	-9.27	0.00659	.	9.017110	0.00166	N	0.000003	T	0.19967	0.0480	L	0.34521	1.04	0.09310	N	1	P;P;P;P;P;P	0.49253	0.911;0.855;0.921;0.574;0.641;0.511	P;B;B;B;B;B	0.47941	0.562;0.359;0.187;0.135;0.133;0.087	T	0.51301	-0.8723	10	0.72032	D	0.01	.	10.3609	0.43994	0.129:0.7054:0.0789:0.0867	.	64;64;64;169;128;128	F5GXZ3;B4DSZ5;Q5T9M4;Q6Q1P2;E9PC28;P08575	.;.;.;.;.;PTPRC_HUMAN	Y	130;64;128;128;169;62;128;62	ENSP00000193532:S128Y;ENSP00000433536:S62Y;ENSP00000411355:S128Y;ENSP00000356337:S62Y	ENSP00000271610:S169Y	S	+	2	0	PTPRC	196935406	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.801000	0.04550	-1.221000	0.02591	-0.263000	0.10527	TCC		PASS	0.532	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				5	108	5	108	---	---	---	---
OR2M7	391196	broad.mit.edu	37	1	248486943	248486943	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:248486943A>G	ENST00000317965.2	-	1	956	c.928T>C	c.(928-930)Tct>Cct	p.S310P		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S310P(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			CAATCTCCAGACTTGCCCTTT	0.373																																						uc010pzk.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(928-930)TCT>CCT		olfactory receptor, family 2, subfamily M,							59.0	61.0	60.0					1																	248486943		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248486943A>G	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.928T>C	1.37:g.248486943A>G	ENSP00000324557:p.Ser310Pro						p.S310P	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	928	-	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)		310			Cytoplasmic (Potential).		B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.928T>C	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	A	6.387	0.439517	0.12104	.	.	ENSG00000177186	ENST00000317965	T	0.09911	2.93	1.8	-1.94	0.07571	.	.	.	.	.	T	0.06188	0.0160	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.38650	-0.9651	9	0.45353	T	0.12	.	2.8109	0.05441	0.5057:0.2488:0.0:0.2455	.	310	Q8NG81	OR2M7_HUMAN	P	310	ENSP00000324557:S310P	ENSP00000324557:S310P	S	-	1	0	OR2M7	246553566	0.000000	0.05858	0.072000	0.20136	0.122000	0.20287	-0.848000	0.04326	-0.057000	0.13199	0.163000	0.16589	TCT		PASS	0.373	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		6	40	6	40	---	---	---	---
OR2T1	26696	broad.mit.edu	37	1	248569754	248569754	+	Silent	SNP	C	C	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr1:248569754C>G	ENST00000366474.1	+	1	459	c.459C>G	c.(457-459)ctC>ctG	p.L153L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L153L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			AACACTTCCTCTACCTTACCC	0.483																																						uc010pzm.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(457-459)CTC>CTG		olfactory receptor, family 2, subfamily T,							165.0	160.0	161.0					1																	248569754		2203	4300	6503	SO:0001819	synonymous_variant	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569754C>G	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.459C>G	1.37:g.248569754C>G							p.L153L	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	459	+	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)		153			Helical; Name=3; (Potential).		Q6IEZ9	Silent	SNP	ENST00000366474.1	37	c.459C>G	CCDS31115.1																																																																																				PASS	0.483	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			55	98	55	98	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1805477	1805477	+	Silent	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:1805477G>A	ENST00000399161.2	-	23	4014	c.3267C>T	c.(3265-3267)ctC>ctT	p.L1089L	MYT1L_ENST00000407844.1_Silent_p.L85L|MYT1L_ENST00000428368.2_Silent_p.L1087L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1089					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|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.L1089L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCTGAGTTCTGAGTTTAATCA	0.378																																						uc002qxe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(3265-3267)CTC>CTT		myelin transcription factor 1-like							223.0	220.0	221.0					2																	1805477		1828	4099	5927	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1805477G>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3267C>T	2.37:g.1805477G>A						MYT1L_uc002qxd.2_Silent_p.L1087L|MYT1L_uc010ewk.2_Silent_p.L85L	p.L1089L	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	23	4094	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	1089			Potential.		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.3267C>T																																																																																					PASS	0.378	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		5	140	5	140	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8940597	8940597	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:8940597C>G	ENST00000256707.3	-	9	1014	c.833G>C	c.(832-834)aGa>aCa	p.R278T	KIDINS220_ENST00000319688.5_Missense_Mutation_p.R279T|KIDINS220_ENST00000427284.1_Missense_Mutation_p.R278T|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R236T|KIDINS220_ENST00000473731.1_Missense_Mutation_p.R278T	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	278					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.R278T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATGACCACCTCTGACAGCGCC	0.373																																						uc002qzc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(832-834)AGA>ACA		kinase D-interacting substrate of 220 kDa							186.0	189.0	188.0					2																	8940597		1908	4121	6029	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8940597C>G	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.833G>C	2.37:g.8940597C>G	ENSP00000256707:p.Arg278Thr					KIDINS220_uc010yiv.1_Missense_Mutation_p.R44T|KIDINS220_uc002qzd.2_Missense_Mutation_p.R236T|KIDINS220_uc010yiw.1_Missense_Mutation_p.R279T	p.R278T	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			9	1015	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		278			Cytoplasmic (Potential).|ANK 9.		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.833G>C	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	32	5.138220	0.94560	.	.	ENSG00000134313	ENST00000496383;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.68	5.68	0.88126	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.71409	0.3336	L	0.28344	0.845	0.80722	D	1	D;D;D;D	0.76494	0.997;0.987;0.995;0.999	D;D;D;D	0.91635	0.994;0.932;0.987;0.999	T	0.74109	-0.3771	10	0.72032	D	0.01	.	19.7964	0.96487	0.0:1.0:0.0:0.0	.	279;279;236;278	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	T	25;278;278;236;278;279;279	ENSP00000420364:R25T;ENSP00000256707:R278T;ENSP00000411849:R278T;ENSP00000414923:R236T;ENSP00000418974:R278T;ENSP00000419964:R279T;ENSP00000319947:R279T	ENSP00000256707:R278T	R	-	2	0	KIDINS220	8858048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.702000	0.92279	0.655000	0.94253	AGA		PASS	0.373	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		4	203	4	203	---	---	---	---
NRBP1	29959	broad.mit.edu	37	2	27657403	27657403	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:27657403G>C	ENST00000233557.3	+	6	1333	c.501G>C	c.(499-501)aaG>aaC	p.K167N	NRBP1_ENST00000379852.3_Missense_Mutation_p.K167N|NRBP1_ENST00000379863.3_Missense_Mutation_p.K167N			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.K167N(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					AGACCAAAAAGAACCACAAGA	0.393																																						uc002rko.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(499-501)AAG>AAC		nuclear receptor binding protein							128.0	133.0	131.0					2																	27657403		2203	4300	6503	SO:0001583	missense	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27657403G>C	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.501G>C	2.37:g.27657403G>C	ENSP00000233557:p.Lys167Asn					NRBP1_uc002rkq.2_Missense_Mutation_p.K167N|NRBP1_uc002rkp.2_Missense_Mutation_p.K167N|NRBP1_uc002rkr.2_5'Flank	p.K167N	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN			6	1333	+	Acute lymphoblastic leukemia(172;0.155)		167			Protein kinase.		B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	c.501G>C	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038491	0.55003	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.16457	2.62;2.62;2.34	5.47	4.6	0.57074	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	M	0.67397	2.05	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.79108	0.986;0.992	T	0.14559	-1.0468	10	0.87932	D	0	-17.9743	10.3476	0.43916	0.1614:0.0:0.8386:0.0	.	167;167	F8W6G1;Q9UHY1	.;NRBP_HUMAN	N	167;147;167;167	ENSP00000233557:K167N;ENSP00000369181:K167N;ENSP00000369192:K167N	ENSP00000233557:K167N	K	+	3	2	NRBP1	27510907	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	1.811000	0.38942	1.304000	0.44892	0.313000	0.20887	AAG		PASS	0.393	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		3	146	3	146	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29294605	29294605	+	Silent	SNP	T	T	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:29294605T>C	ENST00000331664.5	-	1	2522	c.2523A>G	c.(2521-2523)aaA>aaG	p.K841K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	841					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.K841K(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AAGCGAATGATTTGTCCATCA	0.582																																						uc002rmt.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2521-2523)AAA>AAG		hypothetical protein LOC388939							96.0	96.0	96.0					2																	29294605		1920	4147	6067	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29294605T>C		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.2523A>G	2.37:g.29294605T>C							p.K841K	NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN			1	2523	-			841						Silent	SNP	ENST00000331664.5	37	c.2523A>G	CCDS42669.1																																																																																				PASS	0.582	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		5	120	5	120	---	---	---	---
STON1	11037	broad.mit.edu	37	2	48808585	48808585	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:48808585G>T	ENST00000406226.1	+	3	1008	c.813G>T	c.(811-813)caG>caT	p.Q271H	STON1_ENST00000404752.1_Missense_Mutation_p.Q271H|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.Q271H|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.Q271H|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.Q271H|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.Q271H|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.Q271H|STON1_ENST00000309835.3_Missense_Mutation_p.Q271H	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	271					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.Q271H(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCAGGAGTCAGCCAAAATCCG	0.453																																						uc010yol.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)|skin(1)	5						c.(811-813)CAG>CAT		stonin 1							71.0	69.0	70.0					2																	48808585		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48808585G>T	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.813G>T	2.37:g.48808585G>T	ENSP00000384615:p.Gln271His					STON1_uc002rwo.3_Missense_Mutation_p.Q271H|STON1_uc010fbm.2_Missense_Mutation_p.Q271H|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.Q271H|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.Q271H	p.Q271H	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	860	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	271					A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.813G>T	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634421	0.29068	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.12569	2.72;2.72;2.72;2.69;2.67;2.69;2.69;2.87	5.45	5.45	0.79879	.	0.210963	0.51477	D	0.000097	T	0.36496	0.0969	M	0.76328	2.33	0.38507	D	0.948366	D;B;D	0.89917	1.0;0.104;1.0	D;B;D	0.77557	0.99;0.037;0.947	T	0.15549	-1.0433	10	0.87932	D	0	.	12.7446	0.57273	0.0744:0.0:0.9256:0.0	.	271;271;271	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	H	271	ENSP00000385273:Q271H;ENSP00000384615:Q271H;ENSP00000310969:Q271H;ENSP00000385499:Q271H;ENSP00000385701:Q271H;ENSP00000378236:Q271H;ENSP00000311493:Q271H;ENSP00000378234:Q271H	ENSP00000310969:Q271H	Q	+	3	2	STON1-GTF2A1L;STON1	48662089	1.000000	0.71417	0.996000	0.52242	0.070000	0.16714	4.145000	0.58065	2.837000	0.97791	0.591000	0.81541	CAG		PASS	0.453	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		12	52	12	52	---	---	---	---
LHCGR	3973	broad.mit.edu	37	2	48915599	48915599	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:48915599G>T	ENST00000294954.7	-	11	1358	c.1337C>A	c.(1336-1338)aCt>aAt	p.T446N	LHCGR_ENST00000344775.3_Missense_Mutation_p.T384N|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.T419N|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	446					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.T446N(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGCGAATACAGTGAAAAAGCC	0.498																																						uc002rwu.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(1336-1338)ACT>AAT		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						103.0	85.0	91.0					2																	48915599		2203	4300	6503	SO:0001583	missense	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915599G>T		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1337C>A	2.37:g.48915599G>T	ENSP00000294954:p.Thr446Asn					GTF2A1L_uc002rwt.2_Intron	p.T446N	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1407	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	446			Helical; Name=3; (Potential).		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.1337C>A	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341888	0.81911	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	D;D;D	0.83506	-1.73;-1.73;-1.73	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.047132	0.85682	D	0.000000	D	0.94042	0.8091	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94956	0.8104	9	.	.	.	.	19.2938	0.94114	0.0:0.0:1.0:0.0	.	446	P22888	LSHR_HUMAN	N	384;446;419	ENSP00000344301:T384N;ENSP00000294954:T446N;ENSP00000386033:T419N	.	T	-	2	0	LHCGR	48769103	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.789000	0.99068	2.791000	0.96007	0.655000	0.94253	ACT		PASS	0.498	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		4	62	4	62	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49195948	49195948	+	Nonsense_Mutation	SNP	G	G	T	rs267599404		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:49195948G>T	ENST00000406846.2	-	9	862	c.743C>A	c.(742-744)tCg>tAg	p.S248*	FSHR_ENST00000346173.3_Intron|FSHR_ENST00000304421.4_Nonsense_Mutation_p.S222*|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	248					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.S248*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GTTGTAAGTCGACCTGGCCCT	0.443									Gonadal Dysgenesis, 46 XX																													uc002rww.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(742-744)TCG>TAG		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						96.0	91.0	93.0					2																	49195948		2203	4300	6503	SO:0001587	stop_gained	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49195948G>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.743C>A	2.37:g.49195948G>T	ENSP00000384708:p.Ser248*					FSHR_uc002rwx.2_Intron|FSHR_uc010fbn.2_Nonsense_Mutation_p.S222*	p.S248*	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	817	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	248			Extracellular (Potential).|LRR 9.		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Nonsense_Mutation	SNP	ENST00000406846.2	37	c.743C>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756330	0.89843	.	.	ENSG00000170820	ENST00000406846;ENST00000304421	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4504	0.90702	0.0:0.0:1.0:0.0	.	.	.	.	X	248;222	.	.	S	-	2	0	FSHR	49049452	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	4.335000	0.59298	2.836000	0.97738	0.655000	0.94253	TCG		PASS	0.443	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			26	30	26	30	---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74597857	74597857	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:74597857C>T	ENST00000361874.3	-	10	1256	c.939G>A	c.(937-939)atG>atA	p.M313I	DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000394003.3_Missense_Mutation_p.M306I|DCTN1_ENST00000409868.1_Missense_Mutation_p.M296I|DCTN1_ENST00000407639.2_Missense_Mutation_p.M179I|DCTN1_ENST00000409240.1_Missense_Mutation_p.M276I|DCTN1_ENST00000409567.3_Missense_Mutation_p.M293I|DCTN1_ENST00000409438.1_Missense_Mutation_p.M179I	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	313					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)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.M313I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GCTCTTCAGCCATCTCCTTGT	0.562																																						uc002skx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(937-939)ATG>ATA		dynactin 1 isoform 1							131.0	130.0	130.0					2																	74597857		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74597857C>T		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.939G>A	2.37:g.74597857C>T	ENSP00000354791:p.Met313Ile					DCTN1_uc002skv.2_Missense_Mutation_p.M179I|DCTN1_uc002sku.2_Missense_Mutation_p.M179I|DCTN1_uc002skw.1_Missense_Mutation_p.M289I|DCTN1_uc010ffd.2_Missense_Mutation_p.M293I|DCTN1_uc002sky.2_Missense_Mutation_p.M276I	p.M313I	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			10	1250	-			313			Potential.		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.939G>A	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127552	0.94473	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.81163	-1.1;-1.24;-1.16;-1.16;-1.46;-1.28;-1.24	5.66	5.66	0.87406	.	0.000000	0.52532	D	0.000069	D	0.90738	0.7093	M	0.82323	2.585	0.80722	D	1	D;D;P;P;P;P	0.89917	0.999;1.0;0.851;0.773;0.868;0.908	D;D;P;P;P;P	0.85130	0.991;0.997;0.775;0.641;0.712;0.888	D	0.91601	0.5295	10	0.87932	D	0	-12.4368	18.5054	0.90896	0.0:1.0:0.0:0.0	.	293;276;313;306;179;179	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	I	313;306;296;179;179;276;296;293	ENSP00000354791:M313I;ENSP00000377571:M306I;ENSP00000384844:M179I;ENSP00000387270:M179I;ENSP00000386406:M276I;ENSP00000387327:M296I;ENSP00000386843:M293I	ENSP00000354791:M313I	M	-	3	0	DCTN1	74451365	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.750000	0.85110	2.661000	0.90470	0.655000	0.94253	ATG		PASS	0.562	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		14	127	14	127	---	---	---	---
REG3G	130120	broad.mit.edu	37	2	79254172	79254172	+	Nonsense_Mutation	SNP	A	A	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:79254172A>T	ENST00000272324.5	+	4	392	c.208A>T	c.(208-210)Aag>Tag	p.K70*	REG3G_ENST00000409471.1_Intron|REG3G_ENST00000393897.2_Nonsense_Mutation_p.K70*	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	70	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.K70*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGCTTGCCAGAAGCGGCCCTC	0.552																																						uc002snw.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(208-210)AAG>TAG		regenerating islet-derived 3 gamma precursor							129.0	128.0	128.0					2																	79254172		2203	4300	6503	SO:0001587	stop_gained	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79254172A>T	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.208A>T	2.37:g.79254172A>T	ENSP00000272324:p.Lys70*					REG3G_uc002snx.2_Nonsense_Mutation_p.K70*|REG3G_uc010ffu.2_Intron	p.K70*	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			4	293	+			70			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Nonsense_Mutation	SNP	ENST00000272324.5	37	c.208A>T	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.725811	0.48833	.	.	ENSG00000143954	ENST00000393897;ENST00000272324	.	.	.	4.83	2.5	0.30297	.	0.113216	0.39759	N	0.001262	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0482	0.19772	0.8011:0.0:0.1989:0.0	.	.	.	.	X	70	.	ENSP00000272324:K70X	K	+	1	0	REG3G	79107680	0.902000	0.30710	0.988000	0.46212	0.079000	0.17450	1.551000	0.36233	0.974000	0.38366	-0.263000	0.10527	AAG		PASS	0.552	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		41	49	41	49	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103090333	103090333	+	Missense_Mutation	SNP	C	C	A	rs140854922		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:103090333C>A	ENST00000295269.4	+	1	572	c.115C>A	c.(115-117)Cag>Aag	p.Q39K		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	39					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.Q39K(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TTCCACTGCTCAGTATGCATC	0.428																																						uc002tbz.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(115-117)CAG>AAG		solute carrier family 9 (sodium/hydrogen							210.0	188.0	195.0					2																	103090333		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103090333C>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.115C>A	2.37:g.103090333C>A	ENSP00000295269:p.Gln39Lys						p.Q39K	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			1	572	+			39			Cytoplasmic (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.115C>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	6.482	0.457160	0.12283	.	.	ENSG00000180251	ENST00000295269	T	0.41400	1.0	5.7	3.76	0.43208	.	1.903490	0.02016	N	0.047366	T	0.34337	0.0894	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.46414	-0.9193	10	0.05959	T	0.93	.	7.3668	0.26779	0.0:0.7141:0.1424:0.1435	.	39	Q6AI14	SL9A4_HUMAN	K	39	ENSP00000295269:Q39K	ENSP00000295269:Q39K	Q	+	1	0	SLC9A4	102456765	0.006000	0.16342	0.031000	0.17742	0.090000	0.18270	1.873000	0.39558	2.687000	0.91594	0.563000	0.77884	CAG		PASS	0.428	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		74	65	74	65	---	---	---	---
TGFBRAP1	9392	broad.mit.edu	37	2	105896848	105896848	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:105896848T>G	ENST00000393359.2	-	6	1880	c.1454A>C	c.(1453-1455)aAg>aCg	p.K485T	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.K485T			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	485					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.K485T(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTTTTTGTGCTTCTCTAGCCA	0.537																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	uc002tcq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1453-1455)AAG>ACG		transforming growth factor, beta receptor							64.0	49.0	54.0					2																	105896848		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105896848T>G	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1454A>C	2.37:g.105896848T>G	ENSP00000377027:p.Lys485Thr					TGFBRAP1_uc010fjc.2_Missense_Mutation_p.K255T|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.K485T	p.K485T	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN			6	1538	-			485					A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.1454A>C	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.826237	0.71143	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.49139	0.79;0.79	5.41	5.41	0.78517	Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 1 (1);	0.048494	0.85682	D	0.000000	T	0.60379	0.2264	M	0.81341	2.54	0.53005	D	0.999966	P	0.38597	0.639	P	0.46172	0.506	T	0.62210	-0.6902	10	0.39692	T	0.17	-34.0798	15.4494	0.75262	0.0:0.0:0.0:1.0	.	485	Q8WUH2	TGFA1_HUMAN	T	485	ENSP00000377027:K485T;ENSP00000258449:K485T	ENSP00000258449:K485T	K	-	2	0	TGFBRAP1	105263280	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.040000	0.64191	2.041000	0.60428	0.528000	0.53228	AAG		PASS	0.537	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		8	16	8	16	---	---	---	---
FBLN7	129804	broad.mit.edu	37	2	112945056	112945056	+	Silent	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:112945056C>A	ENST00000331203.2	+	8	1564	c.1293C>A	c.(1291-1293)acC>acA	p.T431T	FBLN7_ENST00000409450.3_Silent_p.T385T|FBLN7_ENST00000409667.3_Silent_p.T297T|FBLN7_ENST00000409903.1_Missense_Mutation_p.P347Q	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	431					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.T431T(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCAAGGTCACCATCTTTGTAT	0.592																																						uc002tho.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1291-1293)ACC>ACA		fibulin 7 isoform 1							140.0	130.0	133.0					2																	112945056		2203	4300	6503	SO:0001819	synonymous_variant	129804				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112945056C>A		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.1293C>A	2.37:g.112945056C>A						FBLN7_uc002thn.2_Missense_Mutation_p.P347Q|FBLN7_uc010fki.1_Silent_p.T385T|FBLN7_uc010fkj.1_Silent_p.T297T	p.T431T	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN			8	1564	+			431					A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Silent	SNP	ENST00000331203.2	37	c.1293C>A	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523860	0.27299	.	.	ENSG00000144152	ENST00000409903	T	0.80480	-1.38	5.3	2.26	0.28386	.	.	.	.	.	T	0.62720	0.2451	.	.	.	0.80722	D	1	B	0.18863	0.031	B	0.13407	0.009	T	0.60352	-0.7280	8	0.29301	T	0.29	-37.7964	2.6947	0.05130	0.3144:0.4324:0.1146:0.1386	.	347	B8ZZC1	.	Q	347	ENSP00000386295:P347Q	ENSP00000386295:P347Q	P	+	2	0	FBLN7	112661527	0.569000	0.26643	1.000000	0.80357	0.901000	0.52897	-0.147000	0.10234	2.484000	0.83849	0.561000	0.74099	CCA		PASS	0.592	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214		36	55	36	55	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	137852605	137852605	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:137852605G>T	ENST00000409968.1	+	4	1291	c.1113G>T	c.(1111-1113)atG>atT	p.M371I	THSD7B_ENST00000543459.1_Missense_Mutation_p.M230I|THSD7B_ENST00000272643.3_Missense_Mutation_p.M371I|THSD7B_ENST00000413152.2_Missense_Mutation_p.M340I			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	371	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.M340I(1)|p.M371I(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)		TGAAGCACATGGCTATTGGAG	0.527																																						uc002tva.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1018-1020)ATG>ATT		thrombospondin, type I, domain containing 7B							90.0	98.0	95.0					2																	137852605		1940	4148	6088	SO:0001583	missense	80731							g.chr2:137852605G>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	ENST00000409968.1:c.1113G>T	2.37:g.137852605G>T	ENSP00000387145:p.Met371Ile					THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.M230I	p.M340I	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	3	1020	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1020G>T		.	.	.	.	.	.	.	.	.	.	g	2.100	-0.406346	0.04832	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.84	-0.84	0.10755	.	0.742587	0.13888	N	0.355824	T	0.14313	0.0346	N	0.01417	-0.88	0.18873	N	0.999984	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.17198	-1.0377	10	0.25751	T	0.34	.	2.4179	0.04440	0.1026:0.1892:0.3444:0.3637	.	371;340	Q9C0I4;C9JKN6	THS7B_HUMAN;.	I	371;371;340;230	ENSP00000387145:M371I;ENSP00000272643:M371I;ENSP00000413841:M340I;ENSP00000443370:M230I	ENSP00000272643:M371I	M	+	3	0	THSD7B	137569075	0.985000	0.35326	0.018000	0.16275	0.541000	0.35023	0.230000	0.17852	-0.364000	0.08088	-1.499000	0.00960	ATG		PASS	0.527	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		16	24	16	24	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141260630	141260630	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:141260630C>A	ENST00000389484.3	-	54	9535	c.8564G>T	c.(8563-8565)gGg>gTg	p.G2855V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2855	LDL-receptor class A 19. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G2855V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGACACCGCCCATCAGCACA	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(8563-8565)GGG>GTG		low density lipoprotein-related protein 1B							146.0	136.0	140.0					2																	141260630		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141260630C>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.8564G>T	2.37:g.141260630C>A	ENSP00000374135:p.Gly2855Val	TSP Lung(27;0.18)					p.G2855V	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)	54	9536	-		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)	2855			Extracellular (Potential).|LDL-receptor class A 19.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8564G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	33	5.256652	0.95336	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93189	-3.18	5.91	5.91	0.95273	.	0.000000	0.85682	U	0.000000	D	0.97617	0.9219	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97649	1.0153	10	0.66056	D	0.02	.	20.3132	0.98646	0.0:1.0:0.0:0.0	.	2855	Q9NZR2	LRP1B_HUMAN	V	2855;2793	ENSP00000374135:G2855V	ENSP00000374135:G2855V	G	-	2	0	LRP1B	140977100	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.729000	0.84864	2.817000	0.96982	0.643000	0.83706	GGG		PASS	0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		4	45	4	45	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141819680	141819680	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:141819680G>T	ENST00000389484.3	-	8	2147	c.1176C>A	c.(1174-1176)gaC>gaA	p.D392E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	392					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.D392E(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTCCCACATAGTCCAAGTAAA	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(1174-1176)GAC>GAA		low density lipoprotein-related protein 1B							206.0	187.0	193.0					2																	141819680		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141819680G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1176C>A	2.37:g.141819680G>T	ENSP00000374135:p.Asp392Glu	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.D392E	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)	8	2148	-		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)	392			Extracellular (Potential).|LDL-receptor class B 4.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1176C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325833	0.60743	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91996	-2.95	5.63	1.85	0.25348	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.060632	0.64402	D	0.000005	D	0.91047	0.7183	M	0.87547	2.89	0.35212	D	0.775255	B	0.18013	0.025	B	0.23419	0.046	D	0.86495	0.1800	10	0.41790	T	0.15	.	6.9085	0.24323	0.3231:0.1106:0.5663:0.0	.	392	Q9NZR2	LRP1B_HUMAN	E	392;330	ENSP00000374135:D392E	ENSP00000374135:D392E	D	-	3	2	LRP1B	141536150	0.997000	0.39634	0.971000	0.41717	0.996000	0.88848	0.411000	0.21115	0.127000	0.18452	-0.150000	0.13652	GAC		PASS	0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		4	71	4	71	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166929997	166929997	+	Silent	SNP	G	G	A	rs201985242		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:166929997G>A	ENST00000303395.4	-	1	134	c.135C>T	c.(133-135)gaC>gaT	p.D45D	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.D45D|SCN1A_ENST00000409050.1_Silent_p.D45D|SCN1A_ENST00000423058.2_Silent_p.D45D			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	45					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.D45D(2)		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)	GGCCATTTTCGTCGTCATCTT	0.448																																						uc010zcz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(133-135)GAC>GAT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	G	,,,	1,4405	2.1+/-5.4	0,1,2202	276.0	263.0	267.0		135,135,135,135	-5.1	0.9	2		267	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	45/2010,45/1982,45/2010,45/1999	166929997	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166929997G>A	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.135C>T	2.37:g.166929997G>A							p.D45D	NM_006920	NP_008851	P35498	SCN1A_HUMAN			1	153	-			45					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.135C>T	CCDS54413.1																																																																																				PASS	0.448	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		4	188	4	188	---	---	---	---
PDE11A	50940	broad.mit.edu	37	2	178936383	178936383	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:178936383T>C	ENST00000286063.6	-	1	1099	c.782A>G	c.(781-783)cAt>cGt	p.H261R	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	261	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.H261R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TGTTCCTGCATGCACATCAAA	0.537									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(781-783)CAT>CGT		phosphodiesterase 11A isoform 4							80.0	74.0	76.0					2																	178936383		2203	4300	6503	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178936383T>C	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.782A>G	2.37:g.178936383T>C	ENSP00000286063:p.His261Arg					PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron	p.H261R	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		1	1100	-			261			GAF 1.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.782A>G	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.476649	0.26511	.	.	ENSG00000128655	ENST00000286063	T	0.68331	-0.32	5.63	5.63	0.86233	GAF (2);	0.042919	0.85682	D	0.000000	T	0.64702	0.2622	L	0.31664	0.95	0.80722	D	1	P	0.47762	0.9	P	0.50352	0.638	T	0.64681	-0.6350	10	0.38643	T	0.18	.	15.0228	0.71643	0.0:0.0:0.0:1.0	.	261	Q9HCR9	PDE11_HUMAN	R	261	ENSP00000286063:H261R	ENSP00000286063:H261R	H	-	2	0	PDE11A	178644629	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.622000	0.83099	2.141000	0.66446	0.533000	0.62120	CAT		PASS	0.537	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			32	39	32	39	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179417523	179417523	+	Missense_Mutation	SNP	C	C	T	rs199895320		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:179417523C>T	ENST00000591111.1	-	285	85405	c.85181G>A	c.(85180-85182)cGt>cAt	p.R28394H	TTN_ENST00000460472.2_Missense_Mutation_p.R20970H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R21162H|TTN_ENST00000589042.1_Missense_Mutation_p.R30035H|TTN_ENST00000342992.6_Missense_Mutation_p.R27467H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R21095H|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28394	Fibronectin type-III 107. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.R27465H(1)|p.R27467H(1)|p.R21095H(1)|p.R21162H(1)|p.R20970H(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)			TGAGAGATCACGTATAGGAGC	0.438																																						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.(82399-82401)CGT>CAT		titin isoform N2-A							79.0	72.0	74.0					2																	179417523		1932	4147	6079	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179417523C>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.85181G>A	2.37:g.179417523C>T	ENSP00000465570:p.Arg28394His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R21162H|TTN_uc010zfi.1_Missense_Mutation_p.R21095H|TTN_uc010zfj.1_Missense_Mutation_p.R20970H	p.R27467H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		284	82624	-			28394					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.82400G>A		.	.	.	.	.	.	.	.	.	.	C	15.61	2.883867	0.51908	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.76	5.76	0.90799	Fibronectin, type III (5);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69495	0.3117	L	0.56396	1.775	0.39609	D	0.969858	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	P;P;P;P	0.61533	0.845;0.845;0.845;0.89	T	0.72516	-0.4269	9	0.87932	D	0	.	13.9775	0.64282	0.0:0.9218:0.0:0.0782	.	20970;21095;21162;28394	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	27467;20970;21162;21095;20967	ENSP00000343764:R27467H;ENSP00000434586:R20970H;ENSP00000340554:R21162H;ENSP00000352154:R21095H	ENSP00000340554:R21162H	R	-	2	0	TTN	179125769	1.000000	0.71417	0.943000	0.38184	0.978000	0.69477	4.334000	0.59291	2.882000	0.98803	0.655000	0.94253	CGT		PASS	0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	44	5	44	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179585310	179585310	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:179585310C>A	ENST00000591111.1	-	78	22452	c.22228G>T	c.(22228-22230)Gga>Tga	p.G7410*	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.G7727*|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.G6483*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12970	Ig-like 56.				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.G6483*(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)			GGGGGAGTTCCCGAAATTTCA	0.388																																						uc010zfg.1																			1	Substitution - Nonsense(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.(19447-19449)GGA>TGA		titin isoform N2-A							59.0	53.0	55.0					2																	179585310		1810	4072	5882	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179585310C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22228G>T	2.37:g.179585310C>A	ENSP00000465570:p.Gly7410*					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.G3144*	p.G6483*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		77	19671	-			7410					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.19447G>T		.	.	.	.	.	.	.	.	.	.	C	58	33.882463	0.99981	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2245	0.98337	0.0:1.0:0.0:0.0	.	.	.	.	X	6483	.	ENSP00000343764:G6483X	G	-	1	0	TTN	179293555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.770000	0.95276	0.650000	0.86243	GGA		PASS	0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	22	3	22	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179590103	179590103	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:179590103A>G	ENST00000591111.1	-	69	20101	c.19877T>C	c.(19876-19878)aTg>aCg	p.M6626T	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.M6943T|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M5699T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12226	Ig-like 47.				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.M5699T(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)			ACCTAAGACCATCAGTGTGGC	0.423																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(17095-17097)ATG>ACG		titin isoform N2-A							68.0	61.0	64.0					2																	179590103		1942	4148	6090	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179590103A>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.19877T>C	2.37:g.179590103A>G	ENSP00000465570:p.Met6626Thr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.M2360T	p.M5699T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		68	17320	-			6626					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.17096T>C		.	.	.	.	.	.	.	.	.	.	G	10.22	1.290085	0.23478	.	.	ENSG00000155657	ENST00000342992	T	0.63580	-0.05	5.76	5.76	0.90799	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25680	0.0625	N	0.00056	-2.365	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39440	-0.9614	9	0.87932	D	0	.	15.4325	0.75112	0.0667:0.0:0.9333:0.0	.	6626	Q8WZ42	TITIN_HUMAN	T	5699	ENSP00000343764:M5699T	ENSP00000343764:M5699T	M	-	2	0	TTN	179298348	1.000000	0.71417	0.950000	0.38849	0.578000	0.36192	4.550000	0.60733	1.590000	0.49995	-0.128000	0.14901	ATG		PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	5	4	5	---	---	---	---
DUSP19	142679	broad.mit.edu	37	2	183960325	183960325	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:183960325G>A	ENST00000354221.4	+	4	768	c.593G>A	c.(592-594)cGt>cAt	p.R198H	AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000469344.1_3'UTR|DUSP19_ENST00000342619.6_Missense_Mutation_p.R147H|AC064871.3_ENST00000413954.1_RNA	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	198					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)	p.R198H(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						GAGCAGCTTCGTACATATCAA	0.398																																						uc002upd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(592-594)CGT>CAT		dual specificity phosphatase 19 isoform 1							118.0	114.0	115.0					2																	183960325		2203	4300	6503	SO:0001583	missense	142679				JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity	g.chr2:183960325G>A	AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.593G>A	2.37:g.183960325G>A	ENSP00000346160:p.Arg198His					DUSP19_uc010frp.2_Missense_Mutation_p.R147H|DUSP19_uc010zfr.1_RNA|DUSP19_uc002upe.2_3'UTR	p.R198H	NM_080876	NP_543152	Q8WTR2	DUS19_HUMAN			4	968	+			198					B2RA79|Q547H4|Q8WYN4	Missense_Mutation	SNP	ENST00000354221.4	37	c.593G>A	CCDS2289.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.783214	0.31593	.	.	ENSG00000162999	ENST00000342619;ENST00000354221	D;D	0.85861	-2.04;-2.04	5.57	2.83	0.33086	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.254081	0.47093	D	0.000241	T	0.75162	0.3812	L	0.31294	0.92	0.37069	D	0.898415	B;B	0.13145	0.006;0.007	B;B	0.18561	0.013;0.022	T	0.68070	-0.5506	10	0.38643	T	0.18	.	9.0883	0.36594	0.3693:0.0:0.6307:0.0	.	147;198	Q8WTR2-2;Q8WTR2	.;DUS19_HUMAN	H	147;198	ENSP00000343905:R147H;ENSP00000346160:R198H	ENSP00000343905:R147H	R	+	2	0	DUSP19	183668570	0.492000	0.26027	0.842000	0.33263	0.975000	0.68041	1.399000	0.34566	0.404000	0.25506	-0.216000	0.12614	CGT		PASS	0.398	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255866.1			4	58	4	58	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185802120	185802120	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:185802120C>A	ENST00000302277.6	+	4	2591	c.1997C>A	c.(1996-1998)tCc>tAc	p.S666Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	666							metal ion binding (GO:0046872)	p.S666Y(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAATCCATATCCTTAAGTGAC	0.318																																						uc002uph.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1996-1998)TCC>TAC		zinc finger protein 804A							83.0	88.0	86.0					2																	185802120		2203	4297	6500	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802120C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1997C>A	2.37:g.185802120C>A	ENSP00000303252:p.Ser666Tyr						p.S666Y	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	2591	+			666					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1997C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	0.411	-0.913028	0.02415	.	.	ENSG00000170396	ENST00000302277	T	0.05649	3.41	5.54	0.649	0.17806	.	0.593349	0.15076	N	0.281952	T	0.01222	0.0040	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43261	-0.9402	10	0.02654	T	1	-0.1126	2.1309	0.03750	0.5798:0.152:0.1501:0.1181	.	666	Q7Z570	Z804A_HUMAN	Y	666	ENSP00000303252:S666Y	ENSP00000303252:S666Y	S	+	2	0	ZNF804A	185510365	0.000000	0.05858	0.000000	0.03702	0.195000	0.23768	0.317000	0.19487	-0.109000	0.12044	0.655000	0.94253	TCC		PASS	0.318	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		9	77	9	77	---	---	---	---
GULP1	51454	broad.mit.edu	37	2	189348175	189348175	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:189348175A>G	ENST00000409580.1	+	5	760	c.46A>G	c.(46-48)Aca>Gca	p.T16A	GULP1_ENST00000410051.1_Missense_Mutation_p.T16A|GULP1_ENST00000409805.1_Missense_Mutation_p.T16A|GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000409843.1_Missense_Mutation_p.T16A|GULP1_ENST00000359135.3_Missense_Mutation_p.T16A|GULP1_ENST00000409637.3_Missense_Mutation_p.T16A|GULP1_ENST00000409609.1_Missense_Mutation_p.T16A|GULP1_ENST00000409830.1_Missense_Mutation_p.T16A			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	16					apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)	p.T16A(1)		endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			ATGGATGCATACACCTGAAGC	0.269																																					Pancreas(178;563 2065 20199 42378 52815)	uc010fru.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(46-48)ACA>GCA		GULP, engulfment adaptor PTB domain containing							83.0	90.0	87.0					2																	189348175		2203	4295	6498	SO:0001583	missense	51454				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity	g.chr2:189348175A>G	AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.46A>G	2.37:g.189348175A>G	ENSP00000386289:p.Thr16Ala					GULP1_uc002uqc.3_Missense_Mutation_p.T16A|GULP1_uc002uqd.2_Missense_Mutation_p.T16A|GULP1_uc010zfw.1_Missense_Mutation_p.T16A|GULP1_uc002uqe.2_Missense_Mutation_p.T16A|GULP1_uc002uqf.2_Missense_Mutation_p.T16A|GULP1_uc002uqg.2_Missense_Mutation_p.T16A	p.T16A	NM_016315	NP_057399	Q9UBP9	GULP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)		4	507	+			16					B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	ENST00000409580.1	37	c.46A>G	CCDS2295.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.459652	0.43736	.	.	ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000410051;ENST00000409927;ENST00000409805;ENST00000359135;ENST00000409580;ENST00000409637;ENST00000409609	T;T;T;T;T;T;T;T	0.62364	0.03;0.03;2.58;2.58;0.03;0.03;2.58;0.03	5.84	5.84	0.93424	Pleckstrin homology-type (1);	0.049573	0.85682	D	0.000000	T	0.48259	0.1490	L	0.32530	0.975	0.53005	D	0.999963	B;B;B;B	0.26147	0.105;0.018;0.001;0.143	B;B;B;B	0.28553	0.091;0.006;0.005;0.075	T	0.41395	-0.9511	10	0.07030	T	0.85	-0.0746	12.6008	0.56497	1.0:0.0:0.0:0.0	.	16;16;16;16	E9PB86;Q9UBP9;B8ZZ72;Q9UBP9-2	.;GULP1_HUMAN;.;.	A	16	ENSP00000387144:T16A;ENSP00000386732:T16A;ENSP00000387013:T16A;ENSP00000386809:T16A;ENSP00000352047:T16A;ENSP00000386289:T16A;ENSP00000386402:T16A;ENSP00000386867:T16A	ENSP00000352047:T16A	T	+	1	0	GULP1	189056420	1.000000	0.71417	0.975000	0.42487	0.995000	0.86356	5.193000	0.65120	2.230000	0.72887	0.528000	0.53228	ACA		PASS	0.269	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1	NM_016315		15	16	15	16	---	---	---	---
MSTN	2660	broad.mit.edu	37	2	190922267	190922267	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:190922267C>T	ENST00000260950.4	-	3	977	c.845G>A	c.(844-846)tGt>tAt	p.C282Y	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	282					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.C282Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			AGGGTAACGACAGCATCGTGA	0.418																																						uc002urp.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(844-846)TGT>TAT		myostatin precursor							109.0	95.0	100.0					2																	190922267		2203	4299	6502	SO:0001583	missense	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190922267C>T	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.845G>A	2.37:g.190922267C>T	ENSP00000260950:p.Cys282Tyr						p.C282Y	NM_005259	NP_005250	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		3	978	-			282					A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	37	c.845G>A	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800871	0.70567	.	.	ENSG00000138379	ENST00000260950	T	0.71222	-0.55	5.8	5.8	0.92144	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89708	0.6793	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91990	0.5602	10	0.87932	D	0	-11.4624	20.0503	0.97624	0.0:1.0:0.0:0.0	.	282	O14793	GDF8_HUMAN	Y	282	ENSP00000260950:C282Y	ENSP00000260950:C282Y	C	-	2	0	MSTN	190630512	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.736000	0.93811	0.591000	0.81541	TGT		PASS	0.418	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		24	32	24	32	---	---	---	---
SLC39A10	57181	broad.mit.edu	37	2	196581432	196581432	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:196581432G>C	ENST00000409086.3	+	7	2043	c.1768G>C	c.(1768-1770)Gaa>Caa	p.E590Q	SLC39A10_ENST00000359634.5_Missense_Mutation_p.E590Q|SLC39A10_ENST00000541054.1_Missense_Mutation_p.E140Q	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	590					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.E590Q(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			AGGCCAACAAGAATCCCCTCC	0.373																																						uc002utg.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1768-1770)GAA>CAA		solute carrier family 39 (zinc transporter),							58.0	61.0	60.0					2																	196581432		2203	4300	6503	SO:0001583	missense	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196581432G>C		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1768G>C	2.37:g.196581432G>C	ENSP00000386766:p.Glu590Gln					SLC39A10_uc002uth.3_Missense_Mutation_p.E590Q|SLC39A10_uc010zgp.1_Missense_Mutation_p.E140Q	p.E590Q	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		7	1982	+			590					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	c.1768G>C	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815701	0.50527	.	.	ENSG00000196950	ENST00000409086;ENST00000359634;ENST00000541054	T;T;T	0.51325	0.71;0.71;0.71	5.54	5.54	0.83059	.	0.290400	0.37906	N	0.001889	T	0.33818	0.0876	N	0.17631	0.505	0.36658	D	0.877761	B	0.19445	0.036	B	0.21917	0.037	T	0.23904	-1.0175	10	0.19590	T	0.45	.	15.1907	0.73041	0.0:0.1402:0.8598:0.0	.	590	Q9ULF5	S39AA_HUMAN	Q	590;590;140	ENSP00000386766:E590Q;ENSP00000352655:E590Q;ENSP00000437787:E140Q	ENSP00000352655:E590Q	E	+	1	0	SLC39A10	196289677	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.664000	0.61540	2.890000	0.99128	0.650000	0.86243	GAA		PASS	0.373	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		7	53	7	53	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196741285	196741285	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:196741285G>A	ENST00000312428.6	-	37	6200	c.6100C>T	c.(6100-6102)Cct>Tct	p.P2034S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2034	AAA 3. {ECO:0000250}.				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.P2034S(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						TTGCCCAAAGGAGGACCAAAA	0.423																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(6100-6102)CCT>TCT		dynein, axonemal, heavy chain 7							158.0	141.0	146.0					2																	196741285		1854	4093	5947	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196741285G>A	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.6100C>T	2.37:g.196741285G>A	ENSP00000311273:p.Pro2034Ser						p.P2034S	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			37	6201	-			2034			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6100C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392339	0.62066	.	.	ENSG00000118997	ENST00000312428	T	0.52754	0.65	4.89	4.01	0.46588	ATPase, AAA+ type, core (1);	0.054395	0.85682	N	0.000000	T	0.73426	0.3585	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79818	-0.1643	10	0.62326	D	0.03	.	13.2711	0.60161	0.0777:0.0:0.9223:0.0	.	2034	Q8WXX0	DYH7_HUMAN	S	2034	ENSP00000311273:P2034S	ENSP00000311273:P2034S	P	-	1	0	DNAH7	196449530	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.126000	0.71635	1.428000	0.47296	0.591000	0.81541	CCT		PASS	0.423	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		3	52	3	52	---	---	---	---
SATB2	23314	broad.mit.edu	37	2	200137131	200137131	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:200137131G>A	ENST00000417098.1	-	11	2821	c.2005C>T	c.(2005-2007)Cac>Tac	p.H669Y	SATB2_ENST00000443023.1_Missense_Mutation_p.H610Y|SATB2_ENST00000457245.1_Missense_Mutation_p.H669Y|SATB2_ENST00000260926.5_Missense_Mutation_p.H669Y|SATB2_ENST00000428695.1_Missense_Mutation_p.H551Y	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	669					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.H669Y(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGCTTCACGTGGTACCGCTGG	0.567																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2005-2007)CAC>TAC		SATB homeobox 2							159.0	141.0	147.0					2																	200137131		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200137131G>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.2005C>T	2.37:g.200137131G>A	ENSP00000401112:p.His669Tyr					SATB2_uc010fsq.1_Missense_Mutation_p.H551Y|SATB2_uc002uuz.1_Missense_Mutation_p.H669Y|SATB2_uc002uva.1_Missense_Mutation_p.H669Y	p.H669Y	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			11	2822	-			669			Homeobox.		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.2005C>T	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445916	0.25987	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	D;D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9;-3.9	5.5	5.5	0.81552	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.89605	0.6763	N	0.01874	-0.695	0.58432	D	0.999999	D;P	0.58268	0.982;0.925	P;P	0.51701	0.677;0.53	D	0.87197	0.2238	10	0.02654	T	1	-22.4475	19.762	0.96323	0.0:0.0:1.0:0.0	.	551;669	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	Y	669;610;669;551;669	ENSP00000401112:H669Y;ENSP00000388764:H610Y;ENSP00000260926:H669Y;ENSP00000388581:H551Y;ENSP00000405420:H669Y	ENSP00000260926:H669Y	H	-	1	0	SATB2	199845376	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.875000	0.87205	2.741000	0.93983	0.650000	0.86243	CAC		PASS	0.567	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		6	65	6	65	---	---	---	---
SATB2	23314	broad.mit.edu	37	2	200137256	200137256	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:200137256C>G	ENST00000417098.1	-	11	2696	c.1880G>C	c.(1879-1881)gGg>gCg	p.G627A	SATB2_ENST00000443023.1_Missense_Mutation_p.G568A|SATB2_ENST00000457245.1_Missense_Mutation_p.G627A|SATB2_ENST00000260926.5_Missense_Mutation_p.G627A|SATB2_ENST00000428695.1_Missense_Mutation_p.G509A	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	627					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.G627A(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGGAGGATCCCCAGGGCTTC	0.552																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1879-1881)GGG>GCG		SATB homeobox 2							75.0	76.0	76.0					2																	200137256		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200137256C>G	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1880G>C	2.37:g.200137256C>G	ENSP00000401112:p.Gly627Ala					SATB2_uc010fsq.1_Missense_Mutation_p.G509A|SATB2_uc002uuz.1_Missense_Mutation_p.G627A|SATB2_uc002uva.1_Missense_Mutation_p.G627A	p.G627A	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			11	2697	-			627			Homeobox.		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.1880G>C	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357270	0.41801	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	D;D;D;D;D	0.95853	-3.83;-3.83;-3.83;-3.83;-3.83	5.5	4.57	0.56435	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.057460	0.64402	D	0.000001	D	0.94650	0.8275	N	0.17082	0.46	0.58432	D	0.999999	D;B	0.76494	0.999;0.049	D;B	0.81914	0.995;0.066	D	0.92561	0.6058	10	0.21540	T	0.41	-20.8622	16.1114	0.81266	0.0:0.8663:0.1337:0.0	.	509;627	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	A	627;568;627;509;627	ENSP00000401112:G627A;ENSP00000388764:G568A;ENSP00000260926:G627A;ENSP00000388581:G509A;ENSP00000405420:G627A	ENSP00000260926:G627A	G	-	2	0	SATB2	199845501	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	3.937000	0.56575	2.741000	0.93983	0.650000	0.86243	GGG		PASS	0.552	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		8	40	8	40	---	---	---	---
AOX1	316	broad.mit.edu	37	2	201468035	201468035	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:201468035G>T	ENST00000374700.2	+	7	785	c.544G>T	c.(544-546)Gat>Tat	p.D182Y		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	182					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.D182Y(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTGCTGTTTGGATCAAGGAAT	0.388																																						uc002uvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(544-546)GAT>TAT		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						173.0	171.0	172.0					2																	201468035		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201468035G>T	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.544G>T	2.37:g.201468035G>T	ENSP00000363832:p.Asp182Tyr						p.D182Y	NM_001159	NP_001150	Q06278	ADO_HUMAN			7	645	+			182					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.544G>T	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.691920	0.68271	.	.	ENSG00000138356	ENST00000374700	T	0.54279	0.58	5.09	3.18	0.36537	[2Fe-2S]-binding (2);	0.374112	0.28036	N	0.016854	T	0.51193	0.1660	M	0.76574	2.34	0.38431	D	0.946446	B	0.27416	0.178	B	0.28991	0.097	T	0.53975	-0.8362	10	0.59425	D	0.04	-30.5183	8.7885	0.34837	0.1892:0.0:0.8108:0.0	.	182	Q06278	ADO_HUMAN	Y	182	ENSP00000363832:D182Y	ENSP00000363832:D182Y	D	+	1	0	AOX1	201176280	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.949000	0.49074	0.631000	0.30412	0.455000	0.32223	GAT		PASS	0.388	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		4	41	4	41	---	---	---	---
AOX1	316	broad.mit.edu	37	2	201499549	201499549	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:201499549A>G	ENST00000374700.2	+	21	2498	c.2257A>G	c.(2257-2259)Atg>Gtg	p.M753V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	753					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.M753V(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ACATTTTTATATGGAAACCCA	0.433																																						uc002uvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(2257-2259)ATG>GTG		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						92.0	89.0	90.0					2																	201499549		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201499549A>G	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2257A>G	2.37:g.201499549A>G	ENSP00000363832:p.Met753Val					AOX1_uc010zhf.1_Missense_Mutation_p.M309V|AOX1_uc010fsu.2_Missense_Mutation_p.M119V	p.M753V	NM_001159	NP_001150	Q06278	ADO_HUMAN			21	2358	+			753					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.2257A>G	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.335145	0.60853	.	.	ENSG00000138356	ENST00000374700	T	0.55234	0.53	5.41	5.41	0.78517	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (2);	0.000000	0.85682	D	0.000000	T	0.78349	0.4269	M	0.93808	3.46	0.53005	D	0.999961	P	0.51351	0.944	D	0.62955	0.909	D	0.84343	0.0528	10	0.87932	D	0	-79.4312	15.6048	0.76658	1.0:0.0:0.0:0.0	.	753	Q06278	ADO_HUMAN	V	753	ENSP00000363832:M753V	ENSP00000363832:M753V	M	+	1	0	AOX1	201207794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.471000	0.45127	2.270000	0.75569	0.482000	0.46254	ATG		PASS	0.433	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		10	18	10	18	---	---	---	---
CXCR2	3579	broad.mit.edu	37	2	219000268	219000268	+	Silent	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr2:219000268G>A	ENST00000318507.2	+	3	1171	c.744G>A	c.(742-744)cgG>cgA	p.R248R		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	248					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.R248R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						AGAAGCACCGGGCCATGCGGG	0.587																																						uc002vgz.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)	2						c.(742-744)CGG>CGA		interleukin 8 receptor beta							179.0	173.0	175.0					2																	219000268		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.chr2:219000268G>A	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.744G>A	2.37:g.219000268G>A						CXCR2_uc002vha.1_Silent_p.R248R|CXCR2_uc002vhb.1_Silent_p.R248R	p.R248R	NM_001557	NP_001548	P25025	CXCR2_HUMAN			4	969	+			248			Cytoplasmic (Potential).		Q8IUZ1|Q9P2T6|Q9P2T7	Silent	SNP	ENST00000318507.2	37	c.744G>A	CCDS2408.1																																																																																				PASS	0.587	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		34	96	34	96	---	---	---	---
ZNF385D	79750	broad.mit.edu	37	3	21706457	21706457	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:21706457G>T	ENST00000281523.2	-	2	604	c.86C>A	c.(85-87)cCa>cAa	p.P29Q	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	29						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P29Q(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATCCAGCGATGGTTGCAAAGG	0.522																																						uc003cce.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(2)|ovary(1)	5						c.(85-87)CCA>CAA		zinc finger protein 385D							93.0	87.0	89.0					3																	21706457		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21706457G>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.86C>A	3.37:g.21706457G>T	ENSP00000281523:p.Pro29Gln					ZNF385D_uc010hfb.1_Intron	p.P29Q	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN			2	494	-			29						Missense_Mutation	SNP	ENST00000281523.2	37	c.86C>A	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788238	0.70337	.	.	ENSG00000151789	ENST00000281523	T	0.37411	1.2	5.62	4.75	0.60458	.	0.212707	0.39834	N	0.001247	T	0.32376	0.0827	L	0.49778	1.585	0.26253	N	0.978697	P	0.37015	0.578	B	0.30855	0.121	T	0.24764	-1.0151	10	0.56958	D	0.05	-1.1763	15.0736	0.72059	0.0:0.0:0.8571:0.1429	.	29	Q9H6B1	Z385D_HUMAN	Q	29	ENSP00000281523:P29Q	ENSP00000281523:P29Q	P	-	2	0	ZNF385D	21681461	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.114000	0.77103	1.361000	0.45981	0.591000	0.81541	CCA		PASS	0.522	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		15	19	15	19	---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36898726	36898726	+	Silent	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:36898726G>A	ENST00000429976.2	-	12	2602	c.2355C>T	c.(2353-2355)ttC>ttT	p.F785F	TRANK1_ENST00000301807.6_Silent_p.F235F|TRANK1_ENST00000428977.2_Silent_p.F235F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	785							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.F235F(2)|p.F785F(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						TCATGTTATCGAAGTCCTGGA	0.502																																						uc003cgj.2																			3	Substitution - coding silent(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(703-705)TTC>TTT		lupus brain antigen 1							233.0	226.0	229.0					3																	36898726		2037	4203	6240	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36898726G>A	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.2355C>T	3.37:g.36898726G>A							p.F235F	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	1007	-			785					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.705C>T	CCDS46789.2																																																																																				PASS	0.502	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		29	134	29	134	---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39230454	39230454	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:39230454C>G	ENST00000340369.3	-	2	711	c.483G>C	c.(481-483)gaG>gaC	p.E161D	XIRP1_ENST00000396251.1_Missense_Mutation_p.E161D|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	161					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.E161D(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTGGCTTTGTCTCAAATAGCC	0.607																																						uc003cjk.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(481-483)GAG>GAC		xin actin-binding repeat containing 1							58.0	55.0	56.0					3																	39230454		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39230454C>G	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.483G>C	3.37:g.39230454C>G	ENSP00000343140:p.Glu161Asp					XIRP1_uc003cji.2_Missense_Mutation_p.E161D|XIRP1_uc003cjj.2_Intron	p.E161D	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	704	-			161			Xin 3.		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.483G>C	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.037041	0.54896	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.76186	-1.0;-1.0	4.79	3.01	0.34805	.	0.056585	0.64402	U	0.000002	D	0.83138	0.5189	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.81750	-0.0790	10	0.87932	D	0	.	6.9534	0.24558	0.0:0.7156:0.0:0.2844	.	161;161	Q702N8;Q702N8-2	XIRP1_HUMAN;.	D	161	ENSP00000379550:E161D;ENSP00000343140:E161D	ENSP00000343140:E161D	E	-	3	2	XIRP1	39205458	1.000000	0.71417	0.991000	0.47740	0.849000	0.48306	2.310000	0.43708	0.568000	0.29311	-0.136000	0.14681	GAG		PASS	0.607	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		7	34	7	34	---	---	---	---
CTNNB1	1499	broad.mit.edu	37	3	41278137	41278137	+	Silent	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:41278137G>A	ENST00000349496.5	+	13	2293	c.2013G>A	c.(2011-2013)aaG>aaA	p.K671K	CTNNB1_ENST00000453024.1_Silent_p.K664K|CTNNB1_ENST00000396185.3_Silent_p.K671K|CTNNB1_ENST00000396183.3_Silent_p.K671K|CTNNB1_ENST00000405570.1_Silent_p.K671K	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	671					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|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 cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.E632_S681>SV(1)|p.K671K(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		AAGATTACAAGAAACGGCTTT	0.448		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	uc010hia.1		15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	2	Complex - deletion inframe(1)|Substitution - coding silent(1)	p.E632_S681>SV(1)	lung(1)|kidney(1)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(2011-2013)AAG>AAA		beta-catenin	Lithium(DB01356)						130.0	132.0	131.0					3																	41278137		2203	4300	6503	SO:0001819	synonymous_variant	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41278137G>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.2013G>A	3.37:g.41278137G>A						CTNNB1_uc003ckp.2_Silent_p.K671K|CTNNB1_uc003ckq.2_Silent_p.K671K|CTNNB1_uc003ckr.2_Silent_p.K671K|CTNNB1_uc011azf.1_Silent_p.K664K|CTNNB1_uc011azg.1_Silent_p.K599K|CTNNB1_uc003cks.2_3'UTR|CTNNB1_uc003ckt.1_3'UTR	p.K671K	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	14	2169	+			671					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Silent	SNP	ENST00000349496.5	37	c.2013G>A	CCDS2694.1																																																																																				PASS	0.448	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		4	63	4	63	---	---	---	---
FAM19A1	407738	broad.mit.edu	37	3	68055808	68055808	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:68055808G>C	ENST00000478136.1	+	2	529	c.39G>C	c.(37-39)ttG>ttC	p.L13F	FAM19A1_ENST00000496687.1_Missense_Mutation_p.L13F	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	13						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)		p.L13F(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TCCTGTATTTGTGGATAAGTG	0.522																																						uc003dnd.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(37-39)TTG>TTC		family with sequence similarity 19 (chemokine							242.0	237.0	239.0					3																	68055808		2107	4236	6343	SO:0001583	missense	407738					endoplasmic reticulum|extracellular region		g.chr3:68055808G>C	AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.39G>C	3.37:g.68055808G>C	ENSP00000418575:p.Leu13Phe					FAM19A1_uc003dne.2_Missense_Mutation_p.L13F|FAM19A1_uc003dng.2_Missense_Mutation_p.L13F|FAM19A1_uc003dnf.1_RNA	p.L13F	NM_213609	NP_998774	Q7Z5A9	F19A1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)	2	255	+		Lung NSC(201;0.0117)	13					A8K0V3|Q8TCL8	Missense_Mutation	SNP	ENST00000478136.1	37	c.39G>C	CCDS54606.1	.	.	.	.	.	.	.	.	.	.	.	11.59	1.685334	0.29872	.	.	ENSG00000183662	ENST00000478136;ENST00000496687	.	.	.	6.17	6.17	0.99709	.	0.316217	0.25316	N	0.031541	T	0.32971	0.0847	N	0.12182	0.205	0.36100	D	0.844045	P	0.34699	0.464	B	0.21708	0.036	T	0.35375	-0.9791	9	0.09338	T	0.73	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	13	Q7Z5A9	F19A1_HUMAN	F	13	.	ENSP00000418575:L13F	L	+	3	2	FAM19A1	68138498	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.208000	0.72165	2.941000	0.99782	0.655000	0.94253	TTG		PASS	0.522	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352004.1	NM_213609		3	85	3	85	---	---	---	---
OR5H6	79295	broad.mit.edu	37	3	97983260	97983260	+	Silent	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:97983260C>T	ENST00000383696.2	+	1	173	c.132C>T	c.(130-132)ttC>ttT	p.F44F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F44F(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TACCGCTCTTCCTGGCATTCT	0.413																																						uc003dsi.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(130-132)TTC>TTT		olfactory receptor, family 5, subfamily H,							198.0	207.0	204.0					3																	97983260		2203	4299	6502	SO:0001819	synonymous_variant	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983260C>T	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.132C>T	3.37:g.97983260C>T							p.F44F	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			1	132	+			44			Helical; Name=1; (Potential).		Q6IF88	Silent	SNP	ENST00000383696.2	37	c.132C>T	CCDS33800.1																																																																																				PASS	0.413	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			39	190	39	190	---	---	---	---
CD96	10225	broad.mit.edu	37	3	111325605	111325605	+	Silent	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:111325605C>T	ENST00000283285.5	+	9	1325	c.1194C>T	c.(1192-1194)acC>acT	p.T398T	CD96_ENST00000438817.2_Silent_p.T382T|CD96_ENST00000352690.4_Silent_p.T382T	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	398	Pro/Ser/Thr-rich.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T398T(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CCCTTGACACCCAACCTTCTC	0.373									Opitz Trigonocephaly syndrome																													uc003dxw.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1192-1194)ACC>ACT		CD96 antigen isoform 1 precursor							105.0	98.0	101.0					3																	111325605		2203	4300	6503	SO:0001819	synonymous_variant	10225	Opitz_Trigonocephaly_syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111325605C>T	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1194C>T	3.37:g.111325605C>T						CD96_uc003dxv.2_Silent_p.T382T|CD96_uc003dxx.2_Silent_p.T382T|CD96_uc010hpy.1_Silent_p.T382T	p.T398T	NM_198196	NP_937839	P40200	TACT_HUMAN			9	1364	+			398			Extracellular (Potential).|Pro/Ser/Thr-rich.		Q5JPB3	Silent	SNP	ENST00000283285.5	37	c.1194C>T	CCDS2959.1																																																																																				PASS	0.373	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			10	25	10	25	---	---	---	---
GAP43	2596	broad.mit.edu	37	3	115395178	115395178	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:115395178G>A	ENST00000305124.6	+	2	715	c.349G>A	c.(349-351)Gat>Aat	p.D117N	GAP43_ENST00000393780.3_Missense_Mutation_p.D153N	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	117					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.D153N(1)|p.D117N(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GGGGGAGGGTGATGCTGCCAC	0.602																																						uc003ebq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(349-351)GAT>AAT		growth associated protein 43 isoform 2							29.0	33.0	31.0					3																	115395178		2201	4298	6499	SO:0001583	missense	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115395178G>A		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.349G>A	3.37:g.115395178G>A	ENSP00000305010:p.Asp117Asn					GAP43_uc003ebr.2_Missense_Mutation_p.D153N	p.D117N	NM_002045	NP_002036	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	2	735	+			117					A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	c.349G>A	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862442	0.51482	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.53423	0.62;0.62	4.69	4.69	0.59074	Neuromodulin (GAP-43), C-terminal (1);	0.439740	0.25481	N	0.030369	T	0.49321	0.1550	L	0.50333	1.59	0.30193	N	0.799345	P;B	0.36354	0.549;0.324	B;B	0.43623	0.425;0.112	T	0.47032	-0.9148	10	0.15499	T	0.54	-1.2152	17.7993	0.88581	0.0:0.0:1.0:0.0	.	153;117	A8K0Y4;P17677	.;NEUM_HUMAN	N	117;153	ENSP00000305010:D117N;ENSP00000377372:D153N	ENSP00000305010:D117N	D	+	1	0	GAP43	116877868	0.945000	0.32115	0.045000	0.18777	0.737000	0.42083	3.699000	0.54778	2.425000	0.82216	0.650000	0.86243	GAT		PASS	0.602	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		6	16	6	16	---	---	---	---
GAP43	2596	broad.mit.edu	37	3	115395328	115395328	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:115395328C>A	ENST00000305124.6	+	2	865	c.499C>A	c.(499-501)Caa>Aaa	p.Q167K	GAP43_ENST00000393780.3_Missense_Mutation_p.Q203K	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	167					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.Q167K(1)|p.Q203K(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GGAGCCTAAACAAGCCGATGT	0.607																																						uc003ebq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(499-501)CAA>AAA		growth associated protein 43 isoform 2							31.0	32.0	32.0					3																	115395328		2200	4298	6498	SO:0001583	missense	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115395328C>A		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.499C>A	3.37:g.115395328C>A	ENSP00000305010:p.Gln167Lys					GAP43_uc003ebr.2_Missense_Mutation_p.Q203K	p.Q167K	NM_002045	NP_002036	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	2	885	+			167					A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	c.499C>A	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682253	0.47991	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.36157	1.27;1.27	5.97	5.97	0.96955	Neuromodulin (GAP-43), C-terminal (1);	0.361593	0.31989	N	0.006755	T	0.29190	0.0726	L	0.31420	0.93	0.43924	D	0.996571	B;B	0.29612	0.251;0.136	B;B	0.29862	0.108;0.034	T	0.03933	-1.0991	10	0.30078	T	0.28	-0.3531	15.1877	0.73016	0.1408:0.8592:0.0:0.0	.	203;167	A8K0Y4;P17677	.;NEUM_HUMAN	K	167;203	ENSP00000305010:Q167K;ENSP00000377372:Q203K	ENSP00000305010:Q167K	Q	+	1	0	GAP43	116878018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.480000	0.53172	2.836000	0.97738	0.655000	0.94253	CAA		PASS	0.607	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		4	14	4	14	---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123367818	123367818	+	Splice_Site	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:123367818G>T	ENST00000475616.1	-	23	4414	c.4415C>A	c.(4414-4416)tCt>tAt	p.S1472Y	MYLK_ENST00000346322.5_Splice_Site_p.S1403Y|MYLK_ENST00000359169.1_Splice_Site_p.S1472Y|MYLK_ENST00000360304.3_Splice_Site_p.S1472Y|MYLK_ENST00000360772.3_Splice_Site_p.S1472Y|MYLK_ENST00000354792.5_Splice_Site_p.S272Y			Q15746	MYLK_HUMAN	myosin light chain kinase	1472	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.S1472Y(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)		CTCCACTTACGATCCTAATCT	0.527																																						uc003ego.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|stomach(1)	9						c.(4414-4416)TCT>TAT		myosin light chain kinase isoform 1							190.0	172.0	178.0					3																	123367818		2203	4300	6503	SO:0001630	splice_region_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123367818G>T	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.4415+1C>A	3.37:g.123367818G>T						MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.S272Y|MYLK_uc011bjw.1_Missense_Mutation_p.S1472Y|MYLK_uc003egp.2_Missense_Mutation_p.S1403Y|MYLK_uc003egq.2_Missense_Mutation_p.S1472Y|MYLK_uc003egr.2_Missense_Mutation_p.S1403Y|MYLK_uc003egs.2_Missense_Mutation_p.S1296Y	p.S1472Y	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	26	4697	-		Lung NSC(201;0.0496)	1472			ATP (By similarity).|Protein kinase.		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.4415C>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797617	0.70567	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	4.82	4.82	0.62117	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	0.76535	0.4001	L	0.49699	1.58	0.51767	D	0.999934	D;D;D;D;D	0.69078	0.965;0.997;0.997;0.98;0.972	P;P;D;P;P	0.65323	0.83;0.903;0.934;0.762;0.894	T	0.75608	-0.3259	8	.	.	.	.	18.2408	0.89967	0.0:0.0:1.0:0.0	.	1472;1403;1472;1403;1472	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	Y	1472;1472;1472;1403;272;1472	ENSP00000354004:S1472Y;ENSP00000353452:S1472Y;ENSP00000352088:S1472Y;ENSP00000320622:S1403Y;ENSP00000346846:S272Y;ENSP00000418335:S1472Y	.	S	-	2	0	MYLK	124850508	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.816000	0.62642	2.370000	0.80446	0.650000	0.86243	TCT		PASS	0.527	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	Missense_Mutation	8	49	8	49	---	---	---	---
KCNAB1	7881	broad.mit.edu	37	3	155838411	155838411	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:155838411C>G	ENST00000490337.1	+	1	75	c.11C>G	c.(10-12)gCc>gGc	p.A4G	KCNAB1_ENST00000389636.5_Missense_Mutation_p.A4G	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	4					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.A4G(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATGCTGGCAGCCCGGACAGGG	0.502																																						uc003far.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(10-12)GCC>GGC		potassium voltage-gated channel, shaker-related							111.0	127.0	122.0					3																	155838411		2203	4300	6503	SO:0001583	missense	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:155838411C>G	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.11C>G	3.37:g.155838411C>G	ENSP00000419952:p.Ala4Gly					KCNAB1_uc011bon.1_Missense_Mutation_p.A4G	p.A4G	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		1	75	+			4					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	c.11C>G	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231657	0.79688	.	.	ENSG00000169282	ENST00000490337;ENST00000389636	T;T	0.13196	3.05;2.61	5.33	5.33	0.75918	.	.	.	.	.	T	0.10035	0.0246	N	0.08118	0	0.80722	D	1	B;B	0.26876	0.162;0.162	B;B	0.25884	0.064;0.04	T	0.24225	-1.0166	9	0.87932	D	0	-21.2772	19.0213	0.92916	0.0:1.0:0.0:0.0	.	4;4	B7Z8E5;Q14722	.;KCAB1_HUMAN	G	4	ENSP00000419952:A4G;ENSP00000374287:A4G	ENSP00000374287:A4G	A	+	2	0	KCNAB1	157321105	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.134000	0.64770	2.470000	0.83445	0.557000	0.71058	GCC		PASS	0.502	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		23	226	23	226	---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	157081471	157081471	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:157081471T>C	ENST00000362010.2	-	9	1724	c.1417A>G	c.(1417-1419)Ata>Gta	p.I473V	VEPH1_ENST00000392832.2_Missense_Mutation_p.I473V|VEPH1_ENST00000392833.2_Missense_Mutation_p.I473V|VEPH1_ENST00000543418.1_Missense_Mutation_p.I473V|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	473						plasma membrane (GO:0005886)		p.I473V(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTGGCTGGTATGTCTCCCCTG	0.478																																						uc003fbj.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|lung(1)	5						c.(1417-1419)ATA>GTA		ventricular zone expressed PH domain homolog 1							84.0	87.0	86.0					3																	157081471		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157081471T>C	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1417A>G	3.37:g.157081471T>C	ENSP00000354919:p.Ile473Val					VEPH1_uc003fbk.1_Missense_Mutation_p.I473V|VEPH1_uc010hvu.1_Missense_Mutation_p.I473V	p.I473V	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		9	1734	-			473					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.1417A>G	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	1.452	-0.564826	0.03939	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.07021	3.24;3.23;3.24;3.23	5.37	-3.69	0.04450	.	1.861150	0.02068	N	0.051308	T	0.02688	0.0081	N	0.01874	-0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41610	-0.9499	10	0.02654	T	1	-23.9475	7.2929	0.26376	0.0:0.4146:0.2177:0.3677	.	473;473	Q14D04-2;Q14D04	.;MELT_HUMAN	V	473	ENSP00000376578:I473V;ENSP00000354919:I473V;ENSP00000446258:I473V;ENSP00000376577:I473V	ENSP00000354919:I473V	I	-	1	0	VEPH1	158564165	0.000000	0.05858	0.000000	0.03702	0.161000	0.22273	-0.310000	0.08135	-0.530000	0.06349	-0.263000	0.10527	ATA		PASS	0.478	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		12	98	12	98	---	---	---	---
RSRC1	51319	broad.mit.edu	37	3	158261214	158261214	+	Missense_Mutation	SNP	G	G	A	rs144776555	byFrequency	TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:158261214G>A	ENST00000295930.3	+	9	1012	c.850G>A	c.(850-852)Gat>Aat	p.D284N	RSRC1_ENST00000464171.1_Missense_Mutation_p.D226N|RSRC1_ENST00000312179.6_Missense_Mutation_p.D226N|RSRC1_ENST00000480820.1_Missense_Mutation_p.D284N|RP11-538P18.2_ENST00000475981.1_RNA|RSRC1_ENST00000475278.2_Intron	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	284					mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.D284N(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AAAAGAAATAGATCCTACCAG	0.418													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16355	0.0		0.0	False		,,,				2504	0.0					uc003fbt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(850-852)GAT>AAT		arginine/serine-rich coiled-coil 1		G	ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	157.0	143.0	148.0		850	5.0	1.0	3	dbSNP_134	148	0,8600		0,0,4300	no	missense	RSRC1	NM_016625.2	23	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	284/335	158261214	2,13004	2203	4300	6503	SO:0001583	missense	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:158261214G>A	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.850G>A	3.37:g.158261214G>A	ENSP00000295930:p.Asp284Asn					RSRC1_uc003fbv.2_Missense_Mutation_p.D226N	p.D284N	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		9	961	+			284					A8K2R9|Q96QK2|Q9NZE5	Missense_Mutation	SNP	ENST00000295930.3	37	c.850G>A	CCDS3181.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.92|14.92	2.678073|2.678073	0.47886|0.47886	4.54E-4|4.54E-4	0.0|0.0	ENSG00000174891|ENSG00000174891	ENST00000480820;ENST00000295930;ENST00000464171;ENST00000312179|ENST00000482822	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.294369|.	0.33650|.	N|.	0.004681|.	T|T	0.60625|0.60625	0.2283|0.2283	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	P;P|.	0.51351|.	0.944;0.944|.	P;P|.	0.50659|.	0.467;0.647|.	T|T	0.56872|0.56872	-0.7907|-0.7907	9|5	0.36615|.	T|.	0.2|.	.|.	14.7884|14.7884	0.69821|0.69821	0.0:0.1448:0.8551:0.0|0.0:0.1448:0.8551:0.0	.|.	226;284|.	Q96IZ7-2;Q96IZ7|.	.;RSRC1_HUMAN|.	N|K	284;284;226;226|177	.|.	ENSP00000295930:D284N|.	D|R	+|+	1|2	0|0	RSRC1|RSRC1	159743908|159743908	0.962000|0.962000	0.33011|0.33011	0.983000|0.983000	0.44433|0.44433	0.401000|0.401000	0.30781|0.30781	3.958000|3.958000	0.56737|0.56737	2.495000|2.495000	0.84180|0.84180	0.655000|0.655000	0.94253|0.94253	GAT|AGA		PASS	0.418	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		15	143	15	143	---	---	---	---
RSRC1	51319	broad.mit.edu	37	3	158261220	158261220	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:158261220A>C	ENST00000295930.3	+	9	1018	c.856A>C	c.(856-858)Acc>Ccc	p.T286P	RSRC1_ENST00000464171.1_Missense_Mutation_p.T228P|RSRC1_ENST00000312179.6_Missense_Mutation_p.T228P|RSRC1_ENST00000480820.1_Missense_Mutation_p.T286P|RP11-538P18.2_ENST00000475981.1_RNA|RSRC1_ENST00000475278.2_Intron	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	286					mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.T286P(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AATAGATCCTACCAGCATCCC	0.413																																						uc003fbt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)ACC>CCC		arginine/serine-rich coiled-coil 1							159.0	144.0	149.0					3																	158261220		2203	4300	6503	SO:0001583	missense	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:158261220A>C	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.856A>C	3.37:g.158261220A>C	ENSP00000295930:p.Thr286Pro					RSRC1_uc003fbv.2_Missense_Mutation_p.T228P	p.T286P	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		9	967	+			286					A8K2R9|Q96QK2|Q9NZE5	Missense_Mutation	SNP	ENST00000295930.3	37	c.856A>C	CCDS3181.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.528|7.528	0.658073|0.658073	0.14645|0.14645	.|.	.|.	ENSG00000174891|ENSG00000174891	ENST00000480820;ENST00000295930;ENST00000464171;ENST00000312179|ENST00000482822	.|.	.|.	.|.	5.0|5.0	1.32|1.32	0.21799|0.21799	.|.	0.901796|.	0.09731|.	N|.	0.763119|.	T|T	0.18002|0.18002	0.0432|0.0432	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;P|.	0.49559|.	0.667;0.925|.	B;B|.	0.43478|.	0.209;0.421|.	T|T	0.28839|0.28839	-1.0031|-1.0031	9|5	0.35671|.	T|.	0.21|.	.|.	8.8571|8.8571	0.35234|0.35234	0.5107:0.0:0.4893:0.0|0.5107:0.0:0.4893:0.0	.|.	228;286|.	Q96IZ7-2;Q96IZ7|.	.;RSRC1_HUMAN|.	P|S	286;286;228;228|179	.|.	ENSP00000295930:T286P|.	T|Y	+|+	1|2	0|0	RSRC1|RSRC1	159743914|159743914	0.000000|0.000000	0.05858|0.05858	0.009000|0.009000	0.14445|0.14445	0.337000|0.337000	0.28794|0.28794	-0.164000|-0.164000	0.09983|0.09983	0.052000|0.052000	0.16007|0.16007	0.533000|0.533000	0.62120|0.62120	ACC|TAC		PASS	0.413	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		16	144	16	144	---	---	---	---
KPNA4	3840	broad.mit.edu	37	3	160248717	160248717	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:160248717T>A	ENST00000334256.4	-	7	700	c.395A>T	c.(394-396)cAg>cTg	p.Q132L		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	132					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)	p.Q132L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AGCTTCAAACTGTAAAGAAGG	0.338																																						uc003fdn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(394-396)CAG>CTG		karyopherin alpha 4							53.0	54.0	54.0					3																	160248717		2203	4300	6503	SO:0001583	missense	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160248717T>A	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.395A>T	3.37:g.160248717T>A	ENSP00000334373:p.Gln132Leu						p.Q132L	NM_002268	NP_002259	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		7	701	-			132			ARM 2.		A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	c.395A>T	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.818663	0.90790	.	.	ENSG00000186432	ENST00000334256	T	0.70986	-0.53	5.2	5.2	0.72013	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87900	0.6294	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91106	0.4918	10	0.87932	D	0	-1.0941	15.2366	0.73436	0.0:0.0:0.0:1.0	.	132	O00629	IMA4_HUMAN	L	132	ENSP00000334373:Q132L	ENSP00000334373:Q132L	Q	-	2	0	KPNA4	161731411	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.819000	0.86621	2.183000	0.69458	0.528000	0.53228	CAG		PASS	0.338	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		9	69	9	69	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164907779	164907779	+	Silent	SNP	G	G	A	rs376735384		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:164907779G>A	ENST00000475390.1	-	2	1283	c.840C>T	c.(838-840)ctC>ctT	p.L280L	SLITRK3_ENST00000241274.3_Silent_p.L280L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	280	LRRCT 1.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.L280L(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						ACAAGGGACAGAGTTCTGTCT	0.483										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(838-840)CTC>CTT		slit and trk like 3 protein precursor		G		0,4406		0,0,2203	113.0	117.0	115.0		840	2.7	1.0	3		115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLITRK3	NM_014926.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		280/978	164907779	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164907779G>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.840C>T	3.37:g.164907779G>A		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.L280L	p.L280L	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1284	-			280			LRRCT 1.|Extracellular (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.840C>T	CCDS3197.1																																																																																				PASS	0.483	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		28	94	28	94	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169820624	169820624	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:169820624G>A	ENST00000494943.1	-	13	2599	c.2531C>T	c.(2530-2532)cCt>cTt	p.P844L	PHC3_ENST00000495893.2_Missense_Mutation_p.P856L|PHC3_ENST00000467570.1_Missense_Mutation_p.P803L			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	844					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P856L(1)|p.P825L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TGCCCCATCAGGGCCACTTGG	0.438																																						uc010hws.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2530-2532)CCT>CTT		polyhomeotic like 3							61.0	61.0	61.0					3																	169820624		1904	4115	6019	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169820624G>A		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.2531C>T	3.37:g.169820624G>A	ENSP00000420271:p.Pro844Leu					PHC3_uc003fgl.2_Missense_Mutation_p.P856L|PHC3_uc011bpq.1_Missense_Mutation_p.P803L	p.P844L	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		13	2595	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		844					A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.2531C>T		.	.	.	.	.	.	.	.	.	.	G	13.55	2.271495	0.40194	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570	T;T	0.33438	1.44;1.41	5.47	5.47	0.80525	.	0.253191	0.34555	N	0.003879	T	0.21267	0.0512	L	0.29908	0.895	0.80722	D	1	B;B;P	0.38370	0.187;0.043;0.628	B;B;B	0.28465	0.039;0.01;0.09	T	0.03403	-1.1040	10	0.38643	T	0.18	-16.4778	15.6741	0.77300	0.0:0.1371:0.8629:0.0	.	803;844;856	E7EX82;Q8NDX5;Q8NDX5-7	.;PHC3_HUMAN;.	L	844;856;803	ENSP00000420271:P844L;ENSP00000420294:P856L	ENSP00000419089:P803L	P	-	2	0	PHC3	171303318	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	3.275000	0.51639	2.570000	0.86706	0.650000	0.86243	CCT		PASS	0.438	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		15	91	15	91	---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170824503	170824503	+	Intron	SNP	T	T	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:170824503T>A	ENST00000436636.2	-	21	2751				MIR569_ENST00000385228.1_RNA|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000470834.1_Intron|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000460047.1_Intron|TNIK_ENST00000357327.5_Intron|TNIK_ENST00000284483.8_Intron|TNIK_ENST00000369326.5_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase						actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTGATGTTGCTTCTGATGCTG	0.348																																						hsa-mir-569|MI0003576																			0					0															199.0	178.0	184.0					3																	170824503		1568	3582	5150	SO:0001627	intron_variant	693154							g.chr3:170824503T>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2406+468A>T	3.37:g.170824503T>A						TNIK_uc003fhh.2_Intron|TNIK_uc003fhi.2_Intron|TNIK_uc003fhj.2_Intron|TNIK_uc003fhk.2_Intron|TNIK_uc003fhl.2_Intron|TNIK_uc003fhm.2_Intron|TNIK_uc003fhn.2_Intron|TNIK_uc003fho.2_Intron										-								A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	RNA	SNP	ENST00000436636.2	37	c.46T>A	CCDS46956.1																																																																																				PASS	0.348	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		6	187	6	187	---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	172016525	172016525	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:172016525G>A	ENST00000336824.4	+	9	1108	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	FNDC3B_ENST00000415807.2_Missense_Mutation_p.E337K|FNDC3B_ENST00000416957.1_Missense_Mutation_p.E337K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	337	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.E337K(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CAGTGGAGAAGAATTAGAATG	0.368																																						uc003fhy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1009-1011)GAA>AAA		fibronectin type III domain containing 3B							122.0	126.0	125.0					3																	172016525		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172016525G>A	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1009G>A	3.37:g.172016525G>A	ENSP00000338523:p.Glu337Lys					FNDC3B_uc003fhz.3_Missense_Mutation_p.E337K|FNDC3B_uc003fia.2_Missense_Mutation_p.E268K	p.E337K	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	9	1181	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		337			Fibronectin type-III 1.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.1009G>A	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726230	0.89298	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.58797	0.31;0.31;0.31	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.044055	0.85682	D	0.000000	T	0.66509	0.2796	L	0.53249	1.67	0.80722	D	1	P;B	0.37015	0.578;0.446	B;P	0.47376	0.423;0.545	T	0.61633	-0.7023	10	0.39692	T	0.17	-26.8343	19.8936	0.96942	0.0:0.0:1.0:0.0	.	337;337	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	K	337	ENSP00000411242:E337K;ENSP00000338523:E337K;ENSP00000389094:E337K	ENSP00000338523:E337K	E	+	1	0	FNDC3B	173499219	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.928000	0.75846	2.793000	0.96121	0.655000	0.94253	GAA		PASS	0.368	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		5	231	5	231	---	---	---	---
NAALADL2	254827	broad.mit.edu	37	3	175165048	175165048	+	Silent	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:175165048C>T	ENST00000454872.1	+	6	1250	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	374						integral component of membrane (GO:0016021)		p.L374L(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GATCAAACCTCACCTCTCTAT	0.388																																						uc003fit.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1120-1122)CTC>CTT		N-acetylated alpha-linked acidic dipeptidase 2							77.0	72.0	73.0					3																	175165048		1869	4108	5977	SO:0001819	synonymous_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175165048C>T		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1122C>T	3.37:g.175165048C>T						NAALADL2_uc003fiu.1_Silent_p.L367L|NAALADL2_uc010hwy.1_Intron|NAALADL2_uc010hwz.1_5'UTR	p.L374L	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	6	1209	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	374			Extracellular (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	ENST00000454872.1	37	c.1122C>T	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282774	0.23392	.	.	ENSG00000177694	ENST00000316366	.	.	.	5.71	3.93	0.45458	.	.	.	.	.	T	0.55878	0.1948	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47674	-0.9099	5	0.25106	T	0.35	-7.8277	10.0559	0.42244	0.0:0.7949:0.0:0.2051	.	.	.	.	L	131	.	ENSP00000314951:S131L	S	+	2	0	NAALADL2	176647742	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	0.690000	0.25451	0.778000	0.33520	0.557000	0.71058	TCA		PASS	0.388	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		4	41	4	41	---	---	---	---
AP2M1	1173	broad.mit.edu	37	3	183900585	183900585	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:183900585G>T	ENST00000292807.5	+	11	1250	c.1102G>T	c.(1102-1104)Gca>Tca	p.A368S	EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Missense_Mutation_p.A366S|AP2M1_ENST00000439647.1_Missense_Mutation_p.A366S|AP2M1_ENST00000411763.2_Missense_Mutation_p.A393S|AP2M1_ENST00000461733.1_3'UTR	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	368	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.A368S(1)		endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGATCAGCGCAGAGATTGA	0.547																																						uc011bqx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1102-1104)GCA>TCA		adaptor-related protein complex 2, mu 1 subunit							63.0	64.0	63.0					3																	183900585		2002	4177	6179	SO:0001583	missense	1173				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity	g.chr3:183900585G>T	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.1102G>T	3.37:g.183900585G>T	ENSP00000292807:p.Ala368Ser					AP2M1_uc003fmw.2_Missense_Mutation_p.A366S|AP2M1_uc003fmx.2_Missense_Mutation_p.A296S|AP2M1_uc003fmy.2_Missense_Mutation_p.A366S|AP2M1_uc011bqy.1_Missense_Mutation_p.A238S|AP2M1_uc011bqz.1_Missense_Mutation_p.A184S	p.A368S	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		11	1259	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		368			MHD.		A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP	ENST00000292807.5	37	c.1102G>T	CCDS43177.1	.	.	.	.	.	.	.	.	.	.	G	35	5.498129	0.96355	.	.	ENSG00000161203	ENST00000382456;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000439647;ENST00000442686	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.93	5.93	0.95920	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	M	0.85373	2.75	0.80722	D	1	D;D;P;P;P	0.64830	0.994;0.962;0.93;0.739;0.914	D;D;P;P;P	0.72625	0.978;0.94;0.869;0.807;0.793	T	0.57283	-0.7838	10	0.72032	D	0.01	.	20.3507	0.98813	0.0:0.0:1.0:0.0	.	258;238;368;393;366	B7Z4N2;B4DTI4;Q96CW1;E9PFW3;Q96CW1-2	.;.;AP2M1_HUMAN;.;.	S	366;393;368;308;353;366;58	ENSP00000371894:A366S;ENSP00000403362:A393S;ENSP00000292807:A368S;ENSP00000409081:A366S;ENSP00000416688:A58S	ENSP00000292807:A368S	A	+	1	0	AP2M1	185383279	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.464000	0.97655	2.808000	0.96608	0.655000	0.94253	GCA		PASS	0.547	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	NM_004068		3	71	3	71	---	---	---	---
NRROS	375387	broad.mit.edu	37	3	196388330	196388330	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr3:196388330G>T	ENST00000328557.4	+	3	2019	c.1816G>T	c.(1816-1818)Gcc>Tcc	p.A606S		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	606					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A606S(1)									TGGCTGGGGGGCCCTGCAGCA	0.632																																						uc003fwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1816-1818)GCC>TCC		leucine rich repeat containing 33 precursor							61.0	68.0	66.0					3																	196388330		2203	4300	6503	SO:0001583	missense	375387					integral to membrane		g.chr3:196388330G>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1816G>T	3.37:g.196388330G>T	ENSP00000328625:p.Ala606Ser						p.A606S	NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	3	1920	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		606			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000328557.4	37	c.1816G>T	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	G	5.027	0.190756	0.09547	.	.	ENSG00000174004	ENST00000328557	T	0.47869	0.83	5.56	-0.00653	0.14013	.	0.597438	0.18408	N	0.142157	T	0.27063	0.0663	L	0.34521	1.04	0.09310	N	0.999991	B	0.10296	0.003	B	0.08055	0.003	T	0.08932	-1.0698	10	0.31617	T	0.26	.	1.082	0.01644	0.2765:0.1401:0.3808:0.2026	.	606	Q86YC3	LRC33_HUMAN	S	606	ENSP00000328625:A606S	ENSP00000328625:A606S	A	+	1	0	LRRC33	197872727	0.000000	0.05858	0.676000	0.29932	0.742000	0.42306	-0.957000	0.03861	0.108000	0.17862	0.655000	0.94253	GCC		PASS	0.632	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		5	164	5	164	---	---	---	---
LAP3	51056	broad.mit.edu	37	4	17585116	17585116	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr4:17585116G>T	ENST00000226299.4	+	5	664	c.390G>T	c.(388-390)agG>agT	p.R130S	LAP3_ENST00000606142.1_Missense_Mutation_p.R99S	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	130					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)	p.R130S(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						CGGGGTGCAGGCAGATTCAAG	0.532																																						uc003gph.1																			1	Substitution - Missense(1)		lung(1)		0						c.(388-390)AGG>AGT		leucine aminopeptidase 3							115.0	122.0	120.0					4																	17585116		2203	4300	6503	SO:0001583	missense	51056				proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	g.chr4:17585116G>T	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.390G>T	4.37:g.17585116G>T	ENSP00000226299:p.Arg130Ser					LAP3_uc010ieg.2_Missense_Mutation_p.G95V	p.R130S	NM_015907	NP_056991	P28838	AMPL_HUMAN			5	552	+			130					B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	ENST00000226299.4	37	c.390G>T	CCDS3422.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820729	0.71028	.	.	ENSG00000002549	ENST00000226299	T	0.47177	0.85	5.43	1.26	0.21427	Peptidase M17, leucyl aminopeptidase, N-terminal (1);	0.042071	0.85682	D	0.000000	T	0.71187	0.3310	M	0.92459	3.31	0.58432	D	0.999995	D	0.76494	0.999	D	0.70935	0.971	T	0.74708	-0.3574	10	0.56958	D	0.05	-33.9414	11.3511	0.49587	0.3582:0.0:0.6418:0.0	.	130	P28838	AMPL_HUMAN	S	130	ENSP00000226299:R130S	ENSP00000226299:R130S	R	+	3	2	LAP3	17194214	1.000000	0.71417	0.996000	0.52242	0.947000	0.59692	0.954000	0.29175	0.233000	0.21120	0.655000	0.94253	AGG		PASS	0.532	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			26	74	26	74	---	---	---	---
PPARGC1A	10891	broad.mit.edu	37	4	23803907	23803907	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr4:23803907C>A	ENST00000264867.2	-	11	2200	c.2081G>T	c.(2080-2082)aGg>aTg	p.R694M	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	694	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.R694M(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AAAACGGTCCCTCAGTTCTGT	0.458																																					Esophageal Squamous(29;694 744 13796 34866 44181)	uc003gqs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|kidney(2)|skin(2)	8						c.(2080-2082)AGG>ATG		peroxisome proliferator-activated receptor							128.0	120.0	123.0					4																	23803907		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23803907C>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.2081G>T	4.37:g.23803907C>A	ENSP00000264867:p.Arg694Met					PPARGC1A_uc003gqt.2_RNA	p.R694M	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN			11	2201	-		Breast(46;0.0503)	694			RRM.		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.2081G>T	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	c	15.99	2.994574	0.54041	.	.	ENSG00000109819	ENST00000264867	T	0.19669	2.13	5.16	5.16	0.70880	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.043727	0.85682	D	0.000000	T	0.49115	0.1538	M	0.83312	2.635	0.80722	D	1	D	0.65815	0.995	P	0.60789	0.879	T	0.55915	-0.8065	10	0.87932	D	0	-6.8888	19.0215	0.92917	0.0:1.0:0.0:0.0	.	694	Q9UBK2	PRGC1_HUMAN	M	694	ENSP00000264867:R694M	ENSP00000264867:R694M	R	-	2	0	PPARGC1A	23413005	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.266000	0.58871	2.582000	0.87167	0.457000	0.33378	AGG		PASS	0.458	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		17	39	17	39	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46053442	46053442	+	Splice_Site	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr4:46053442G>T	ENST00000295452.4	-	8	1297	c.1130C>A	c.(1129-1131)tCg>tAg	p.S377*		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	377					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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)	p.S377*(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	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)	TTAACATACCGAGGCTTTATT	0.318																																						uc003gxb.2																			2	Substitution - Nonsense(2)		large_intestine(1)|lung(1)	ovary(2)	2						c.(1129-1131)TCG>TAG		gamma-aminobutyric acid A receptor, gamma 1							43.0	41.0	41.0					4																	46053442		2201	4297	6498	SO:0001630	splice_region_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46053442G>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1131+1C>A	4.37:g.46053442G>T							p.S377*	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	8	1282	-			377			Cytoplasmic (Probable).		Q5H9T8	Nonsense_Mutation	SNP	ENST00000295452.4	37	c.1130C>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552629	0.86127	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	.	.	.	5.63	3.83	0.44106	.	0.782790	0.11568	N	0.551119	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	12.6897	0.56968	0.0:0.1312:0.7472:0.1217	.	.	.	.	X	377	.	ENSP00000295452:S377X	S	-	2	0	GABRG1	45748199	0.997000	0.39634	0.999000	0.59377	0.389000	0.30415	2.376000	0.44292	2.659000	0.90383	0.650000	0.86243	TCG		PASS	0.318	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	Nonsense_Mutation	5	12	5	12	---	---	---	---
EXOC1	55763	broad.mit.edu	37	4	56734579	56734579	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr4:56734579G>T	ENST00000381295.2	+	5	841	c.493G>T	c.(493-495)Gca>Tca	p.A165S	EXOC1_ENST00000346134.7_Missense_Mutation_p.A165S|EXOC1_ENST00000349598.6_Missense_Mutation_p.A165S	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	165					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.A165S(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)					AGAGTTAAATGCAAGAGAAGA	0.393																																						uc003hbe.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6						c.(493-495)GCA>TCA		exocyst complex component 1 isoform 1							135.0	130.0	132.0					4																	56734579		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56734579G>T	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.493G>T	4.37:g.56734579G>T	ENSP00000370695:p.Ala165Ser					EXOC1_uc003hbf.1_Missense_Mutation_p.A165S|EXOC1_uc003hbg.1_Missense_Mutation_p.A165S	p.A165S	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN			5	651	+	Glioma(25;0.08)|all_neural(26;0.101)		165			Potential.		Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.493G>T	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228712	0.58777	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.68	5.68	0.88126	.	0.101106	0.64402	D	0.000002	T	0.59582	0.2204	L	0.50333	1.59	0.52501	D	0.999953	B;B	0.22683	0.073;0.042	B;B	0.26614	0.059;0.071	T	0.54377	-0.8303	9	0.16420	T	0.52	.	19.7815	0.96417	0.0:0.0:1.0:0.0	.	165;165	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	S	165	.	ENSP00000326514:A165S	A	+	1	0	EXOC1	56429336	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.327000	0.59247	2.674000	0.91012	0.555000	0.69702	GCA		PASS	0.393	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		9	18	9	18	---	---	---	---
UTP3	57050	broad.mit.edu	37	4	71555719	71555719	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr4:71555719G>A	ENST00000254803.2	+	1	1524	c.1325G>A	c.(1324-1326)aGa>aAa	p.R442K		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	442					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R442K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			AAGTTCAGAAGAGCCAAAATT	0.408																																						uc003hfo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1324-1326)AGA>AAA		UTP3, small subunit processome component							123.0	130.0	128.0					4																	71555719		2203	4300	6503	SO:0001583	missense	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71555719G>A	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.1325G>A	4.37:g.71555719G>A	ENSP00000254803:p.Arg442Lys						p.R442K	NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	1524	+			442					Q6FI82	Missense_Mutation	SNP	ENST00000254803.2	37	c.1325G>A	CCDS3546.1	.	.	.	.	.	.	.	.	.	.	G	9.851	1.193768	0.22037	.	.	ENSG00000132467	ENST00000254803	T	0.18810	2.19	5.46	2.79	0.32731	Something about silencing protein 10 (Sas10), C-terminal (1);	0.050794	0.85682	N	0.000000	T	0.05410	0.0143	N	0.00783	-1.19	0.46521	D	0.999083	B	0.09022	0.002	B	0.15870	0.014	T	0.37888	-0.9686	10	0.02654	T	1	-4.9392	11.051	0.47889	0.2069:0.0:0.7931:0.0	.	442	Q9NQZ2	SAS10_HUMAN	K	442	ENSP00000254803:R442K	ENSP00000254803:R442K	R	+	2	0	UTP3	71774583	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.469000	0.45110	0.353000	0.24079	0.655000	0.94253	AGA		PASS	0.408	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		17	58	17	58	---	---	---	---
SLC4A4	8671	broad.mit.edu	37	4	72263358	72263358	+	Silent	SNP	G	G	C	rs532086588		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr4:72263358G>C	ENST00000264485.5	+	7	912	c.795G>C	c.(793-795)ccG>ccC	p.P265P	SLC4A4_ENST00000351898.6_Silent_p.P265P|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Silent_p.P221P|SLC4A4_ENST00000512686.1_Silent_p.P221P|SLC4A4_ENST00000425175.1_Silent_p.P265P	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	265					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.P265P(1)|p.P221P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CTGATAAACCGGAGAAGGACC	0.393																																						uc003hfy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|kidney(1)|skin(1)	5						c.(793-795)CCG>CCC		solute carrier family 4, sodium bicarbonate							90.0	87.0	88.0					4																	72263358		2203	4300	6503	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72263358G>C	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.795G>C	4.37:g.72263358G>C						SLC4A4_uc010iic.2_Silent_p.P265P|SLC4A4_uc010iib.2_Silent_p.P265P|SLC4A4_uc003hfz.2_Silent_p.P265P|SLC4A4_uc003hgc.3_Silent_p.P221P|SLC4A4_uc003hga.2_Silent_p.P143P|SLC4A4_uc003hgb.3_Silent_p.P221P	p.P265P	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		7	912	+			265			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.795G>C	CCDS43236.1																																																																																				PASS	0.393	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		8	38	8	38	---	---	---	---
ADH1B	125	broad.mit.edu	37	4	100235165	100235165	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr4:100235165G>T	ENST00000305046.8	-	6	708	c.641C>A	c.(640-642)gCa>gAa	p.A214E	ADH1B_ENST00000394887.3_Missense_Mutation_p.A174E			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	214					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.A214E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	TGCTCCAGCTGCTTTACAGCC	0.502																																						uc003hus.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(640-642)GCA>GAA		class I alcohol dehydrogenase, beta subunit	Fomepizole(DB01213)|NADH(DB00157)						271.0	269.0	270.0					4																	100235165		2203	4300	6503	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100235165G>T	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.641C>A	4.37:g.100235165G>T	ENSP00000306606:p.Ala214Glu					ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.A174E|ADH1B_uc011ceh.1_Missense_Mutation_p.A59E|ADH1B_uc011cei.1_Missense_Mutation_p.A174E	p.A214E	NM_000668	NP_000659	P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	6	725	-			214					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.641C>A	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.907029	0.33628	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.07908	3.15;3.15	3.81	3.81	0.43845	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.526973	0.19955	N	0.102333	T	0.27559	0.0677	M	0.90019	3.08	0.40832	D	0.983595	B;P;P	0.44281	0.452;0.831;0.742	P;P;P	0.58331	0.705;0.566;0.837	T	0.03025	-1.1081	10	0.31617	T	0.26	-3.3657	8.2604	0.31781	0.1906:0.0:0.8094:0.0	.	201;174;214	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	E	214;174;201	ENSP00000306606:A214E;ENSP00000378351:A174E	ENSP00000306606:A214E	A	-	2	0	ADH1B	100454188	0.511000	0.26179	0.996000	0.52242	0.231000	0.25187	1.851000	0.39338	1.641000	0.50575	0.561000	0.74099	GCA		PASS	0.502	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		38	195	38	195	---	---	---	---
TBCK	93627	broad.mit.edu	37	4	107230062	107230062	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr4:107230062A>C	ENST00000273980.5	-	3	503	c.56T>G	c.(55-57)cTg>cGg	p.L19R	TBCK_ENST00000361687.4_Missense_Mutation_p.L19R|TBCK_ENST00000432496.2_Missense_Mutation_p.L19R|TBCK_ENST00000394706.3_Missense_Mutation_p.L19R|TBCK_ENST00000394708.2_Missense_Mutation_p.L19R					TBC1 domain containing kinase									p.L19R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						ATCATGTGGCAGAGCCGAGGC	0.443																																						uc010ilv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						c.(55-57)CTG>CGG		TBC domain-containing protein kinase-like							111.0	111.0	111.0					4																	107230062		2203	4300	6503	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107230062A>C		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.56T>G	4.37:g.107230062A>C	ENSP00000273980:p.Leu19Arg					TBCK_uc003hye.2_Missense_Mutation_p.L19R|TBCK_uc003hyc.2_Missense_Mutation_p.L19R|TBCK_uc003hyd.2_5'UTR|TBCK_uc003hyf.2_Missense_Mutation_p.L19R	p.L19R	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN			2	421	-			19			Protein kinase.			Missense_Mutation	SNP	ENST00000273980.5	37	c.56T>G	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.178065	0.57692	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708;ENST00000509532;ENST00000509862;ENST00000507696	T;T;T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73	5.25	5.25	0.73442	Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.22936	0.0554	L	0.32530	0.975	0.58432	D	0.999998	P;D;D	0.65815	0.67;0.989;0.995	B;P;D	0.65233	0.299;0.843;0.933	T	0.04191	-1.0970	10	0.15066	T	0.55	.	15.1388	0.72595	1.0:0.0:0.0:0.0	.	19;19;19	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	R	19	ENSP00000273980:L19R;ENSP00000405847:L19R;ENSP00000355338:L19R;ENSP00000378196:L19R;ENSP00000378198:L19R;ENSP00000420985:L19R;ENSP00000425197:L19R;ENSP00000423637:L19R	ENSP00000273980:L19R	L	-	2	0	TBCK	107449511	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	1.997000	0.58415	0.482000	0.46254	CTG		PASS	0.443	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		5	35	5	35	---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123305122	123305122	+	Splice_Site	SNP	G	G	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr4:123305122G>C	ENST00000296513.2	+	5	714		c.e5+1		ADAD1_ENST00000388725.2_Splice_Site|ADAD1_ENST00000492454.1_Splice_Site|ADAD1_ENST00000388724.2_Splice_Site	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)						multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GAAACATCAGGTAAATACTCT	0.333																																						uc003ieo.2																			1	Unknown(1)		lung(1)		0						c.e5+1		adenosine deaminase domain containing 1							50.0	50.0	50.0					4																	123305122		2203	4300	6503	SO:0001630	splice_region_variant	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123305122G>C	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.529+1G>C	4.37:g.123305122G>C						ADAD1_uc003iep.2_Splice_Site_p.G177_splice|ADAD1_uc003ieq.2_Splice_Site_p.G159_splice	p.G177_splice	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN			5	761	+								A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Splice_Site	SNP	ENST00000296513.2	37	c.529_splice	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.847908	0.71603	.	.	ENSG00000164113	ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6142	0.91296	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAD1	123524572	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	5.978000	0.70501	2.768000	0.95171	0.579000	0.79373	.		PASS	0.333	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243	Intron	8	22	8	22	---	---	---	---
GUCY1A3	2982	broad.mit.edu	37	4	156629398	156629398	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr4:156629398G>A	ENST00000296518.7	+	5	537	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.E110K|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.E110K|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.E110K|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.E110K|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.E110K			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	110					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.E110K(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAAATCTTTGGAAAGAGAAGA	0.279																																						uc003iov.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(328-330)GAA>AAA		guanylate cyclase 1, soluble, alpha 3 isoform A							38.0	44.0	42.0					4																	156629398		2202	4294	6496	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156629398G>A		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.328G>A	4.37:g.156629398G>A	ENSP00000296518:p.Glu110Lys					GUCY1A3_uc003iou.2_Missense_Mutation_p.E110K|GUCY1A3_uc010iqc.2_Missense_Mutation_p.E110K|GUCY1A3_uc003iow.2_Missense_Mutation_p.E110K|GUCY1A3_uc010iqd.2_Missense_Mutation_p.E110K|GUCY1A3_uc003iox.2_Missense_Mutation_p.E110K|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.E110K|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.E110K	p.E110K	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	6	864	+	all_hematologic(180;0.24)	Renal(120;0.0854)	110					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.328G>A	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489754	0.64074	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.9	5.9	0.94986	Heme-NO binding (1);	0.090468	0.47852	D	0.000208	T	0.30885	0.0779	N	0.25890	0.77	0.41254	D	0.986737	B;B;B	0.12630	0.001;0.001;0.006	B;B;B	0.16722	0.016;0.016;0.009	T	0.13495	-1.0507	10	0.06891	T	0.86	.	18.1128	0.89541	0.0:0.0:1.0:0.0	.	110;110;110	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	K	110	ENSP00000424361:E110K;ENSP00000421493:E110K;ENSP00000426968:E110K;ENSP00000412201:E110K;ENSP00000296518:E110K;ENSP00000426040:E110K	ENSP00000296518:E110K	E	+	1	0	GUCY1A3	156848848	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	6.058000	0.71126	2.817000	0.96982	0.552000	0.68991	GAA		PASS	0.279	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			5	39	5	39	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177071097	177071097	+	Silent	SNP	T	T	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr4:177071097T>A	ENST00000280190.4	+	15	2265	c.2109T>A	c.(2107-2109)atT>atA	p.I703I	WDR17_ENST00000508596.1_Silent_p.I679I|WDR17_ENST00000393643.2_Silent_p.I679I|WDR17_ENST00000507824.2_Silent_p.I686I			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	703								p.I703I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AAGAAATTATTGGGAACACTG	0.353																																						uc003iuj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(2107-2109)ATT>ATA		WD repeat domain 17 isoform 1							97.0	101.0	100.0					4																	177071097		2203	4300	6503	SO:0001819	synonymous_variant	116966							g.chr4:177071097T>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2109T>A	4.37:g.177071097T>A						WDR17_uc003iuk.2_Silent_p.I679I|WDR17_uc003ium.3_Silent_p.I679I|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_5'Flank	p.I703I	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	15	2265	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	703					E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	c.2109T>A	CCDS3825.1																																																																																				PASS	0.353	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			28	69	28	69	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177098642	177098642	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr4:177098642A>C	ENST00000280190.4	+	30	3842	c.3686A>C	c.(3685-3687)tAt>tCt	p.Y1229S	WDR17_ENST00000508596.1_Missense_Mutation_p.Y1190S|WDR17_ENST00000393643.2_Missense_Mutation_p.Y1205S|WDR17_ENST00000507824.2_Missense_Mutation_p.Y1204S			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1229								p.Y1229S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GACTCTCCGTATACACCCCCT	0.308																																						uc003iuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(3685-3687)TAT>TCT		WD repeat domain 17 isoform 1							74.0	84.0	80.0					4																	177098642		2202	4298	6500	SO:0001583	missense	116966							g.chr4:177098642A>C	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3686A>C	4.37:g.177098642A>C	ENSP00000280190:p.Tyr1229Ser					WDR17_uc003iuk.2_Missense_Mutation_p.Y1205S|WDR17_uc003ium.3_Missense_Mutation_p.Y1190S|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.Y440S	p.Y1229S	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	30	3842	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	1229					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.3686A>C	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	A	9.971	1.225507	0.22457	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.42900	0.96;0.96;0.96	5.6	0.339	0.15979	.	0.939980	0.09009	N	0.861879	T	0.35008	0.0917	L	0.57536	1.79	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.30621	-0.9972	10	0.23891	T	0.37	-3.1805	6.475	0.22031	0.5878:0.1299:0.2824:0.0	.	1205;1190;1229	E7EP77;E7EQX0;Q8IZU2	.;.;WDR17_HUMAN	S	1190;1205;1229;1205	ENSP00000422763:Y1190S;ENSP00000377258:Y1205S;ENSP00000280190:Y1229S	ENSP00000280190:Y1229S	Y	+	2	0	WDR17	177335636	0.329000	0.24696	0.045000	0.18777	0.875000	0.50365	0.710000	0.25748	-0.046000	0.13446	0.524000	0.50904	TAT		PASS	0.308	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			9	69	9	69	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186544316	186544316	+	Missense_Mutation	SNP	G	G	T	rs144923775	byFrequency	TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr4:186544316G>T	ENST00000284776.7	-	13	2764	c.2255C>A	c.(2254-2256)cCg>cAg	p.P752Q	SORBS2_ENST00000431808.1_Missense_Mutation_p.P752Q|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656Q|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852Q|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752					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.P752Q(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)		GCTGTTGTCCGGCAAGCTCCC	0.527																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2254-2256)CCG>CAG		sorbin and SH3 domain containing 2 isoform 2							141.0	160.0	154.0					4																	186544316		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.chr4:186544316G>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.2255C>A	4.37:g.186544316G>T	ENSP00000284776:p.Pro752Gln					SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.P852Q|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.P656Q|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.P866Q|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	p.P752Q	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)	13	3113	-		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)	752					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2255C>A	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193992	0.58017	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.45668	0.99;0.99;0.89;0.94	5.77	5.77	0.91146	.	0.051313	0.85682	D	0.000000	T	0.64080	0.2566	L	0.56769	1.78	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	T	0.63274	-0.6674	10	0.62326	D	0.03	-14.2624	19.982	0.97329	0.0:0.0:1.0:0.0	.	656;852;752	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	Q	752;752;656;852	ENSP00000284776:P752Q;ENSP00000411764:P752Q;ENSP00000397482:P656Q;ENSP00000347852:P852Q	ENSP00000284776:P752Q	P	-	2	0	SORBS2	186781310	1.000000	0.71417	0.991000	0.47740	0.203000	0.24098	9.869000	0.99810	2.737000	0.93849	0.561000	0.74099	CCG		PASS	0.527	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		32	169	32	169	---	---	---	---
F11	2160	broad.mit.edu	37	4	187192828	187192828	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr4:187192828C>T	ENST00000403665.2	+	3	473	c.121C>T	c.(121-123)Cca>Tca	p.P41S	F11_ENST00000492972.2_Missense_Mutation_p.P41S|F11_ENST00000264692.4_Missense_Mutation_p.P41S	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	41	Apple 1. {ECO:0000255|PROSITE- ProRule:PRU00315}.				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.P41S(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)	GGTCTTCACACCAAGCGCCAA	0.488																																						uc003iza.1																			1	Substitution - Missense(1)		lung(1)		0						c.(121-123)CCA>TCA		coagulation factor XI precursor	Coagulation Factor IX(DB00100)						205.0	159.0	175.0					4																	187192828		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.chr4:187192828C>T	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.121C>T	4.37:g.187192828C>T	ENSP00000384957:p.Pro41Ser					F11_uc003iyz.2_Missense_Mutation_p.P41S	p.P41S	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)	3	454	+		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)	41			Apple 1.		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	c.121C>T	CCDS3847.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271671	0.59649	.	.	ENSG00000088926	ENST00000403665;ENST00000264692;ENST00000492972	D;D;D	0.88431	-2.38;-2.38;-2.38	6.17	6.17	0.99709	Apple domain (2);PAN-1 domain (1);Apple-like (1);	0.000000	0.85682	D	0.000000	D	0.95271	0.8466	M	0.82823	2.61	0.51767	D	0.999939	D	0.89917	1.0	D	0.97110	1.0	D	0.94853	0.8015	10	0.87932	D	0	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	41	P03951	FA11_HUMAN	S	41	ENSP00000384957:P41S;ENSP00000264692:P41S;ENSP00000424479:P41S	ENSP00000264692:P41S	P	+	1	0	F11	187429822	0.995000	0.38212	0.370000	0.25965	0.006000	0.05464	5.242000	0.65389	2.941000	0.99782	0.655000	0.94253	CCA		PASS	0.488	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			33	46	33	46	---	---	---	---
ZFP42	132625	broad.mit.edu	37	4	188924097	188924097	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr4:188924097G>T	ENST00000326866.4	+	4	544	c.136G>T	c.(136-138)Gtg>Ttg	p.V46L	ZFP42_ENST00000509524.1_Missense_Mutation_p.V46L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	46					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V46L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGTCAGCGCGGTGTGGGCCTT	0.567																																						uc003izg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(136-138)GTG>TTG		zinc finger protein 42							114.0	98.0	103.0					4																	188924097		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924097G>T	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.136G>T	4.37:g.188924097G>T	ENSP00000317686:p.Val46Leu					ZFP42_uc003izh.1_Missense_Mutation_p.V46L|ZFP42_uc003izi.1_Missense_Mutation_p.V46L	p.V46L	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	381	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	46					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.136G>T	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396557	0.25205	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.62788	-0.0;-0.0	4.68	-3.71	0.04424	.	0.752485	0.11178	U	0.591226	T	0.40862	0.1134	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27297	-1.0078	10	0.72032	D	0.01	.	5.6256	0.17480	0.4476:0.2508:0.3016:0.0	.	46	Q96MM3	ZFP42_HUMAN	L	46	ENSP00000317686:V46L;ENSP00000424662:V46L	ENSP00000317686:V46L	V	+	1	0	ZFP42	189161091	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.317000	0.08060	-0.650000	0.05423	-0.150000	0.13652	GTG		PASS	0.567	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		17	35	17	35	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5186183	5186183	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr5:5186183A>G	ENST00000274181.7	+	5	920	c.782A>G	c.(781-783)aAg>aGg	p.K261R	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.K261R	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	261					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K261R(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						CAGCCTCCCAAGGAAGACCTC	0.488																																						uc003jdl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(781-783)AAG>AGG		ADAM metallopeptidase with thrombospondin type 1							176.0	173.0	174.0					5																	5186183		1944	4152	6096	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5186183A>G	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.782A>G	5.37:g.5186183A>G	ENSP00000274181:p.Lys261Arg					ADAMTS16_uc003jdk.1_Missense_Mutation_p.K261R|ADAMTS16_uc003jdj.1_Missense_Mutation_p.K261R	p.K261R	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			5	920	+			261					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.782A>G	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	1.018	-0.685834	0.03328	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.61980	0.14;0.06	5.37	-5.43	0.02632	.	0.786562	0.11557	N	0.552120	T	0.36880	0.0983	N	0.20685	0.6	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.001;0.005;0.002	T	0.29088	-1.0023	10	0.15066	T	0.55	.	8.0932	0.30813	0.534:0.2783:0.1877:0.0	.	261;261;261	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	R	261	ENSP00000274181:K261R;ENSP00000421631:K261R	ENSP00000274181:K261R	K	+	2	0	ADAMTS16	5239183	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-2.297000	0.01141	-0.979000	0.03529	-0.242000	0.12053	AAG		PASS	0.488	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		28	133	28	133	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11117570	11117570	+	Missense_Mutation	SNP	C	C	G	rs141186137		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr5:11117570C>G	ENST00000304623.8	-	13	2458	c.2269G>C	c.(2269-2271)Gat>Cat	p.D757H	CTNND2_ENST00000511377.1_Missense_Mutation_p.D666H|CTNND2_ENST00000458100.2_Missense_Mutation_p.D324H|CTNND2_ENST00000359640.2_Missense_Mutation_p.D757H|CTNND2_ENST00000503622.1_Missense_Mutation_p.D420H|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	757					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D757H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACCTTGCTATCGATCTCACTG	0.522																																						uc003jfa.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2269-2271)GAT>CAT		catenin (cadherin-associated protein), delta 2							183.0	164.0	170.0					5																	11117570		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11117570C>G	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2269G>C	5.37:g.11117570C>G	ENSP00000307134:p.Asp757His					CTNND2_uc010itt.2_Missense_Mutation_p.D666H|CTNND2_uc011cmy.1_Missense_Mutation_p.D420H|CTNND2_uc011cmz.1_Missense_Mutation_p.D324H|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.D324H	p.D757H	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			13	2414	-			757			ARM 6.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2269G>C	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861947	0.91433	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94450	0.8214	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.94777	0.7950	10	0.87932	D	0	-16.1043	19.6126	0.95616	0.0:1.0:0.0:0.0	.	420;324;757	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	H	757;757;666;324;420	ENSP00000307134:D757H;ENSP00000352661:D757H;ENSP00000426510:D666H;ENSP00000391155:D324H;ENSP00000426887:D420H	ENSP00000307134:D757H	D	-	1	0	CTNND2	11170570	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.407000	0.80029	2.647000	0.89833	0.650000	0.86243	GAT		PASS	0.522	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		33	54	33	54	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14389424	14389424	+	Silent	SNP	C	C	A	rs145624600		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr5:14389424C>A	ENST00000344204.4	+	25	3999	c.3975C>A	c.(3973-3975)ggC>ggA	p.G1325G	TRIO_ENST00000509967.2_Silent_p.G1276G|TRIO_ENST00000537187.1_Silent_p.G1325G	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1325	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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 GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G1325G(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGACCAGTGGCGTGGAAGAGA	0.403																																						uc003jff.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(3973-3975)GGC>GGA		triple functional domain (PTPRF interacting)							93.0	92.0	92.0					5																	14389424		2203	4300	6503	SO:0001819	synonymous_variant	7204				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|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14389424C>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3975C>A	5.37:g.14389424C>A						TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.G1276G|TRIO_uc003jfh.1_Silent_p.G974G	p.G1325G	NM_007118	NP_009049	O75962	TRIO_HUMAN			25	3981	+	Lung NSC(4;0.000742)		1325			DH 1.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.3975C>A	CCDS3883.1																																																																																				PASS	0.403	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		4	18	4	18	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23527031	23527031	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr5:23527031G>A	ENST00000296682.3	+	11	2016	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	612					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.E612K(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						TGTCTGCAGGGAGTGTGGGCG	0.622										HNSCC(3;0.000094)																												uc003jgo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1834-1836)GAG>AAG		PR domain containing 9							28.0	31.0	30.0					5																	23527031		1926	3967	5893	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.chr5:23527031G>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.1834G>A	5.37:g.23527031G>A	ENSP00000296682:p.Glu612Lys	HNSCC(3;0.000094)					p.E612K	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2016	+			612			C2H2-type 5.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1834G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673646	0.29693	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.35605	1.3	1.89	1.89	0.25635	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.208219	0.23991	N	0.042572	T	0.24624	0.0597	N	0.21583	0.68	0.21473	N	0.999678	B	0.31640	0.333	B	0.35770	0.21	T	0.20042	-1.0287	10	0.41790	T	0.15	-12.5953	9.7731	0.40603	0.0:0.0:1.0:0.0	.	612	Q9NQV7	PRDM9_HUMAN	K	612;378	ENSP00000296682:E612K	ENSP00000253473:E378K	E	+	1	0	PRDM9	23562788	0.000000	0.05858	0.995000	0.50966	0.286000	0.27126	0.057000	0.14279	1.338000	0.45544	0.455000	0.32223	GAG		PASS	0.622	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		15	48	15	48	---	---	---	---
C7	730	broad.mit.edu	37	5	40937697	40937697	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr5:40937697A>T	ENST00000313164.9	+	6	831	c.472A>T	c.(472-474)Acc>Tcc	p.T158S		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	158	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.T158S(1)					Ovarian(839;0.0112)				AGTCATCAATACCAAAAGTTT	0.403																																						uc003jmh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(472-474)ACC>TCC		complement component 7 precursor							134.0	126.0	129.0					5																	40937697		1855	4097	5952	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40937697A>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.472A>T	5.37:g.40937697A>T	ENSP00000322061:p.Thr158Ser					C7_uc011cpn.1_Intron	p.T158S	NM_000587	NP_000578	P10643	CO7_HUMAN			6	586	+		Ovarian(839;0.0112)	158			MACPF.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.472A>T	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.813927	0.90790	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	T	0.62639	0.01	6.17	6.17	0.99709	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.80248	0.4588	M	0.82517	2.595	0.54753	D	0.999982	D	0.76494	0.999	D	0.80764	0.994	T	0.80410	-0.1394	10	0.39692	T	0.17	-21.24	15.3933	0.74767	1.0:0.0:0.0:0.0	.	158	P10643	CO7_HUMAN	S	158	ENSP00000322061:T158S	ENSP00000322061:T158S	T	+	1	0	C7	40973454	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.267000	0.78462	2.371000	0.80710	0.533000	0.62120	ACC		PASS	0.403	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			7	20	7	20	---	---	---	---
SERINC5	256987	broad.mit.edu	37	5	79442032	79442032	+	Silent	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr5:79442032C>T	ENST00000507668.2	-	11	1269	c.1119G>A	c.(1117-1119)aaG>aaA	p.K373K	CTC-458I2.2_ENST00000511484.1_RNA|SERINC5_ENST00000512972.2_Silent_p.K373K|SERINC5_ENST00000509193.1_Silent_p.K371K|SERINC5_ENST00000512721.1_Silent_p.K373K	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	373					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)	p.K372K(1)|p.K373K(1)		endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GTGGTCCCTCCTTCCCCGGCT	0.507																																						uc003kgj.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1117-1119)AAG>AAA		developmentally regulated protein TPO1							223.0	216.0	218.0					5																	79442032		1968	4155	6123	SO:0001819	synonymous_variant	256987				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane		g.chr5:79442032C>T	AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"""chromosome 5 open reading frame 12"""	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.1119G>A	5.37:g.79442032C>T						SERINC5_uc003kgk.2_Silent_p.K371K|SERINC5_uc003kgl.2_RNA|SERINC5_uc003kgm.2_Silent_p.K373K|SERINC5_uc011ctj.1_Silent_p.K373K	p.K373K	NM_178276	NP_840060	Q86VE9	SERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)	11	1248	-		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)	373			Extracellular (Potential).		B4DMH7|Q495A4|Q495A6	Silent	SNP	ENST00000507668.2	37	c.1119G>A	CCDS54873.1																																																																																				PASS	0.507	SERINC5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_178276		4	114	4	114	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82816665	82816665	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr5:82816665C>A	ENST00000265077.3	+	7	3105	c.2540C>A	c.(2539-2541)aCt>aAt	p.T847N	VCAN_ENST00000342785.4_Missense_Mutation_p.T847N|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.T799N	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	847	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.T847N(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CCAAGTTTCACTGAAGATGGA	0.423																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(2539-2541)ACT>AAT		versican isoform 1 precursor							105.0	105.0	105.0					5																	82816665		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816665C>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2540C>A	5.37:g.82816665C>A	ENSP00000265077:p.Thr847Asn					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.T847N|VCAN_uc003kik.3_Intron	p.T847N	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2896	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	847			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2540C>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633962	0.29068	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.32272	1.46;1.46;1.46	6.06	2.16	0.27623	.	0.315399	0.27739	N	0.018046	T	0.43144	0.1234	M	0.65975	2.015	0.20926	N	0.999826	P;D	0.69078	0.867;0.997	P;P	0.60789	0.463;0.879	T	0.14420	-1.0473	10	0.59425	D	0.04	.	6.2446	0.20810	0.1329:0.6451:0.0:0.2221	.	847;847	P13611-3;P13611	.;CSPG2_HUMAN	N	847;847;799	ENSP00000265077:T847N;ENSP00000342768:T847N;ENSP00000425959:T799N	ENSP00000265077:T847N	T	+	2	0	VCAN	82852421	0.804000	0.28969	0.888000	0.34837	0.118000	0.20060	1.432000	0.34936	0.898000	0.36418	0.650000	0.86243	ACT		PASS	0.423	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		12	33	12	33	---	---	---	---
CAST	831	broad.mit.edu	37	5	96075820	96075820	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr5:96075820G>T	ENST00000341926.3	+	10	790	c.628G>T	c.(628-630)Gct>Tct	p.A210S	CAST_ENST00000511782.1_Missense_Mutation_p.A196S|CAST_ENST00000504465.1_Missense_Mutation_p.A138S|CAST_ENST00000325674.7_Missense_Mutation_p.A271S|CAST_ENST00000508830.1_Missense_Mutation_p.A293S|CTC-506B8.1_ENST00000502568.1_RNA|CAST_ENST00000395812.2_Missense_Mutation_p.A252S|CAST_ENST00000359176.4_Missense_Mutation_p.A274S|CAST_ENST00000509903.1_Missense_Mutation_p.A188S|CAST_ENST00000395813.1_Missense_Mutation_p.A293S|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000309190.5_Missense_Mutation_p.A188S|CAST_ENST00000510756.1_Missense_Mutation_p.A271S|CAST_ENST00000508608.1_Missense_Mutation_p.A256S|CAST_ENST00000511049.1_Missense_Mutation_p.A196S|CAST_ENST00000508579.1_5'Flank|CAST_ENST00000338252.3_Missense_Mutation_p.A210S			P20810	ICAL_HUMAN	calpastatin	210					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)	p.A188S(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GGAACTATTGGCTGTAAGTTA	0.294																																						uc003klz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)|kidney(1)	5						c.(628-630)GCT>TCT		calpastatin isoform i							37.0	38.0	38.0					5																	96075820		2202	4295	6497	SO:0001583	missense	831						calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding	g.chr5:96075820G>T	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.628G>T	5.37:g.96075820G>T	ENSP00000339914:p.Ala210Ser					CAST_uc003klt.2_Missense_Mutation_p.A210S|CAST_uc003klu.2_Missense_Mutation_p.A293S|CAST_uc003klv.2_Missense_Mutation_p.A271S|CAST_uc003klw.2_Missense_Mutation_p.A274S|CAST_uc003klx.2_Missense_Mutation_p.A252S|CAST_uc003kly.2_Missense_Mutation_p.A271S|CAST_uc011cuo.1_Missense_Mutation_p.A256S|CAST_uc011cup.1_Missense_Mutation_p.A161S|CAST_uc011cuq.1_Missense_Mutation_p.A58S|CAST_uc011cur.1_Missense_Mutation_p.A196S|CAST_uc011cus.1_Missense_Mutation_p.A210S|CAST_uc003kma.1_Missense_Mutation_p.A169S|CAST_uc011cut.1_Missense_Mutation_p.A138S|CAST_uc003kmb.2_Missense_Mutation_p.A169S|CAST_uc003kmc.2_Missense_Mutation_p.A210S|CAST_uc003kmd.2_Missense_Mutation_p.A188S|CAST_uc003kme.2_Missense_Mutation_p.A169S|CAST_uc003kmf.2_Missense_Mutation_p.A188S|CAST_uc003kmh.2_5'Flank|CAST_uc010jbj.2_5'Flank|CAST_uc010jbk.2_5'Flank	p.A210S	NM_001042443	NP_001035908	P20810	ICAL_HUMAN		all cancers(79;6.85e-15)	10	790	+		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)	210			Inhibitory domain 1.		B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	ENST00000341926.3	37	c.628G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.60|14.60	2.582890|2.582890	0.46006|0.46006	.|.	.|.	ENSG00000153113|ENSG00000153113	ENST00000505143;ENST00000338252;ENST00000508830;ENST00000511097;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000421689;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000510156;ENST00000504465;ENST00000509903;ENST00000511782|ENST00000512620	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.55588|.	0.51;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33|.	6.06|6.06	4.25|4.25	0.50352|0.50352	.|.	0.976137|.	0.08485|.	N|.	0.938831|.	T|T	0.38585|0.38585	0.1046|0.1046	L|L	0.40543|0.40543	1.245|1.245	0.22779|0.22779	N|N	0.998748|0.998748	B;B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.32302|.	0.363;0.277;0.309;0.029;0.118;0.128;0.063;0.118;0.063;0.164;0.128;0.023;0.097;0.076|.	B;B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.37731|.	0.183;0.257;0.197;0.011;0.078;0.047;0.031;0.114;0.031;0.069;0.067;0.01;0.099;0.047|.	T|T	0.21143|0.21143	-1.0254|-1.0254	10|5	0.19147|.	T|.	0.46|.	0.0573|0.0573	9.3664|9.3664	0.38228|0.38228	0.1696:0.0:0.8304:0.0|0.1696:0.0:0.8304:0.0	.|.	138;58;188;256;188;188;169;210;271;252;274;271;293;210|.	E9PDE4;B7Z8S8;B7Z5T6;B7Z468;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2|.	.;.;.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.|.	S|C	288;210;293;271;293;274;271;252;274;271;256;210;196;188;210;138;188;196|226	ENSP00000422957:A288S;ENSP00000343421:A210S;ENSP00000425721:A293S;ENSP00000422951:A271S;ENSP00000379158:A293S;ENSP00000352098:A274S;ENSP00000320319:A271S;ENSP00000379157:A252S;ENSP00000396558:A274S;ENSP00000422176:A271S;ENSP00000422677:A256S;ENSP00000339914:A210S;ENSP00000421130:A196S;ENSP00000312523:A188S;ENSP00000422325:A210S;ENSP00000425670:A138S;ENSP00000426946:A188S;ENSP00000423638:A196S|.	ENSP00000312523:A188S|.	A|W	+|+	1|3	0|0	CAST|CAST	96101576|96101576	0.986000|0.986000	0.35501|0.35501	0.705000|0.705000	0.30386|0.30386	0.984000|0.984000	0.73092|0.73092	1.053000|1.053000	0.30442|0.30442	0.856000|0.856000	0.35383|0.35383	0.655000|0.655000	0.94253|0.94253	GCT|TGG		PASS	0.294	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062		3	9	3	9	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113831627	113831627	+	Silent	SNP	A	A	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr5:113831627A>G	ENST00000512097.3	+	9	2506	c.1488A>G	c.(1486-1488)ttA>ttG	p.L496L	KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000503706.1_Silent_p.L148L|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000264773.3_Silent_p.L496L			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	496					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.L148L(1)|p.L496L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	TTTCTGACTTAAACGAAAGGA	0.428																																						uc003kqo.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1486-1488)TTA>TTG		small conductance calcium-activated potassium							107.0	113.0	111.0					5																	113831627		2202	4300	6502	SO:0001819	synonymous_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113831627A>G	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1488A>G	5.37:g.113831627A>G						KCNN2_uc003kqp.2_Silent_p.L148L|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	p.L496L	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	8	1945	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	496					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	c.1488A>G	CCDS4114.1																																																																																				PASS	0.428	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		18	77	18	77	---	---	---	---
PCDHB2	56133	broad.mit.edu	37	5	140475273	140475273	+	Nonsense_Mutation	SNP	C	C	A	rs560781528		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr5:140475273C>A	ENST00000194155.4	+	1	1047	c.899C>A	c.(898-900)tCg>tAg	p.S300*		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	300	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S300*(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTGCAAAATCGGGAGAACTG	0.413																																						uc003lil.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(898-900)TCG>TAG		protocadherin beta 2 precursor							82.0	85.0	84.0					5																	140475273		2203	4300	6503	SO:0001587	stop_gained	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475273C>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.899C>A	5.37:g.140475273C>A	ENSP00000194155:p.Ser300*					PCDHB2_uc003lim.1_5'UTR	p.S300*	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1037	+			300			Extracellular (Potential).|Cadherin 3.		Q4KMU1	Nonsense_Mutation	SNP	ENST00000194155.4	37	c.899C>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399916	0.62177	.	.	ENSG00000112852	ENST00000194155	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	15.1291	0.72507	0.142:0.858:0.0:0.0	.	.	.	.	X	300	.	ENSP00000194155:S300X	S	+	2	0	PCDHB2	140455457	0.002000	0.14202	0.748000	0.31131	0.180000	0.23129	1.358000	0.34102	2.695000	0.91970	0.655000	0.94253	TCG		PASS	0.413	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		4	46	4	46	---	---	---	---
PCDHB4	56131	broad.mit.edu	37	5	140502076	140502076	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr5:140502076C>G	ENST00000194152.1	+	1	496	c.496C>G	c.(496-498)Ctt>Gtt	p.L166V	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	166	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L166V(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCAATGGTCTTCAAAAATA	0.433																																						uc003lip.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(496-498)CTT>GTT		protocadherin beta 4 precursor							55.0	57.0	56.0					5																	140502076		2203	4300	6503	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502076C>G	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.496C>G	5.37:g.140502076C>G	ENSP00000194152:p.Leu166Val						p.L166V	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	496	+			166			Cadherin 2.|Extracellular (Potential).		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.496C>G	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.809444	0.00606	.	.	ENSG00000081818	ENST00000194152	T	0.50813	0.73	4.56	2.7	0.31948	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.26955	0.0660	N	0.17278	0.47	0.23227	N	0.998085	B	0.10296	0.003	B	0.20184	0.028	T	0.20009	-1.0288	9	0.25106	T	0.35	.	3.1435	0.06463	0.3537:0.3144:0.2517:0.0802	.	166	Q9Y5E5	PCDB4_HUMAN	V	166	ENSP00000194152:L166V	ENSP00000194152:L166V	L	+	1	0	PCDHB4	140482260	0.000000	0.05858	0.994000	0.49952	0.238000	0.25445	-0.783000	0.04638	0.592000	0.29728	0.655000	0.94253	CTT		PASS	0.433	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		8	24	8	24	---	---	---	---
SH3RF2	153769	broad.mit.edu	37	5	145439472	145439472	+	Silent	SNP	C	C	T	rs148067714	byFrequency	TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr5:145439472C>T	ENST00000511217.1	+	8	1651	c.1599C>T	c.(1597-1599)ctC>ctT	p.L533L	SH3RF2_ENST00000359120.4_Silent_p.L533L|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	533					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)	p.L533L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCCACTCTCGTGGTAGGCT	0.627													C|||	4	0.000798722	0.0	0.0014	5008	,	,		15544	0.0		0.003	False		,,,				2504	0.0					uc003lnt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1597-1599)CTC>CTT		SH3 domain containing ring finger 2		C		7,4399	12.9+/-30.5	0,7,2196	49.0	47.0	48.0		1599	-9.8	0.4	5	dbSNP_134	48	41,8559	27.4+/-76.7	0,41,4259	no	coding-synonymous	SH3RF2	NM_152550.3		0,48,6455	TT,TC,CC		0.4767,0.1589,0.3691		533/730	145439472	48,12958	2203	4300	6503	SO:0001819	synonymous_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145439472C>T	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1599C>T	5.37:g.145439472C>T						SH3RF2_uc011dbl.1_Silent_p.L533L|SH3RF2_uc011dbm.1_Silent_p.L18L|SH3RF2_uc003lnu.2_Silent_p.L24L|SH3RF2_uc011dbn.1_Silent_p.L24L|SH3RF2_uc011dbo.1_5'UTR	p.L533L	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1837	+			533					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	c.1599C>T	CCDS4280.1																																																																																				PASS	0.627	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		3	36	3	36	---	---	---	---
SGCD	6444	broad.mit.edu	37	5	156021964	156021964	+	Silent	SNP	T	T	C	rs569852808		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr5:156021964T>C	ENST00000435422.3	+	5	889	c.402T>C	c.(400-402)taT>taC	p.Y134Y	SGCD_ENST00000447401.1_Silent_p.Y135Y|SGCD_ENST00000337851.4_Silent_p.Y135Y|SGCD_ENST00000517913.1_Silent_p.Y135Y	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	134					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.Y135Y(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAGAAGCTTATGGTAAAAAAT	0.393													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18435	0.0		0.0	False		,,,				2504	0.0					uc003lwd.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(400-402)TAT>TAC		delta-sarcoglycan isoform 3							60.0	56.0	57.0					5																	156021964		1808	4073	5881	SO:0001819	synonymous_variant	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:156021964T>C	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.402T>C	5.37:g.156021964T>C						SGCD_uc003lwa.1_Silent_p.Y135Y|SGCD_uc003lwb.2_Silent_p.Y135Y|SGCD_uc003lwc.3_Silent_p.Y135Y	p.Y134Y	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		5	878	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	134			Extracellular (Potential).		A8K9S9|Q53XA5|Q99644	Silent	SNP	ENST00000435422.3	37	c.402T>C	CCDS47327.1																																																																																				PASS	0.393	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			4	17	4	17	---	---	---	---
GABRA1	2554	broad.mit.edu	37	5	161322698	161322698	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr5:161322698A>T	ENST00000428797.2	+	10	1238	c.883A>T	c.(883-885)Aca>Tca	p.T295S	GABRA1_ENST00000023897.6_Missense_Mutation_p.T295S|GABRA1_ENST00000444819.1_Missense_Mutation_p.T295S|GABRA1_ENST00000437025.2_Missense_Mutation_p.T295S|GABRA1_ENST00000393943.4_Missense_Mutation_p.T295S|GABRA1_ENST00000420560.1_Missense_Mutation_p.T295S	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	295					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.T295S(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)	CACCATGACAACATTGAGCAT	0.423																																						uc010jiw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(883-885)ACA>TCA		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)						181.0	143.0	156.0					5																	161322698		2203	4300	6503	SO:0001583	missense	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.chr5:161322698A>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.883A>T	5.37:g.161322698A>T	ENSP00000393097:p.Thr295Ser					GABRA1_uc010jix.2_Missense_Mutation_p.T295S|GABRA1_uc010jiy.2_Missense_Mutation_p.T295S|GABRA1_uc003lyx.3_Missense_Mutation_p.T295S|GABRA1_uc010jiz.2_Missense_Mutation_p.T295S|GABRA1_uc010jja.2_Missense_Mutation_p.T295S|GABRA1_uc010jjb.2_Missense_Mutation_p.T295S	p.T295S	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)	10	1351	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	295			Helical; (Probable).		D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.883A>T	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193426	0.78902	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.8	5.8	0.92144	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.91805	0.7407	M	0.72576	2.205	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.92635	0.6119	10	0.87932	D	0	.	16.1435	0.81544	1.0:0.0:0.0:0.0	.	295	P14867	GBRA1_HUMAN	S	295	ENSP00000023897:T295S;ENSP00000393097:T295S;ENSP00000377517:T295S;ENSP00000415441:T295S;ENSP00000408041:T295S;ENSP00000414232:T295S	ENSP00000023897:T295S	T	+	1	0	GABRA1	161255276	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	9.228000	0.95250	2.212000	0.71576	0.528000	0.53228	ACA		PASS	0.423	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		6	28	6	28	---	---	---	---
HIST1H2BI	8346	broad.mit.edu	37	6	26273498	26273498	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:26273498G>C	ENST00000377733.2	+	1	355	c.295G>C	c.(295-297)Gtg>Ctg	p.V99L	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	99					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V99L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CCAAACGGCTGTGCGCCTGCT	0.592																																						uc003nhk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(295-297)GTG>CTG		histone cluster 1, H2bi							59.0	62.0	61.0					6																	26273498		2203	4300	6503	SO:0001583	missense	8346				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26273498G>C	Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"""Histones / Replication-dependent"""	4756	protein-coding gene	gene with protein product		602807	"""H2B histone family, member K"", ""histone 1, H2bi"""	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.295G>C	6.37:g.26273498G>C	ENSP00000366962:p.Val99Leu					HIST1H3G_uc003nhi.2_5'Flank	p.V99L	NM_003525	NP_003516	P62807	H2B1C_HUMAN			1	295	+			99					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000377733.2	37	c.295G>C	CCDS4603.1	.	.	.	.	.	.	.	.	.	.	.	15.69	2.908911	0.52439	.	.	ENSG00000168242	ENST00000377733	T	0.41065	1.01	4.36	4.36	0.52297	.	0.000000	0.36854	U	0.002369	T	0.60676	0.2287	H	0.94264	3.515	0.27903	N	0.938893	.	.	.	.	.	.	T	0.62737	-0.6791	8	0.46703	T	0.11	.	15.4863	0.75571	0.0:0.0:1.0:0.0	.	.	.	.	L	99	ENSP00000366962:V99L	ENSP00000366962:V99L	V	+	1	0	HIST1H2BI	26381477	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	6.474000	0.73578	1.975000	0.57531	0.563000	0.77884	GTG		PASS	0.592	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040111.1	NM_003525		15	62	15	62	---	---	---	---
HIST1H2BO	8348	broad.mit.edu	37	6	27861243	27861243	+	Start_Codon_SNP	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:27861243G>T	ENST00000303806.4	+	1	41	c.3G>T	c.(1-3)atG>atT	p.M1I	HIST1H2AM_ENST00000359611.2_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	1					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M1I(1)									CCTCCGCCATGCCCGACCCGG	0.502																																						uc003nkc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ATT		histone cluster 1, H2bo							43.0	47.0	46.0					6																	27861243		2203	4300	6503	SO:0001582	initiator_codon_variant	8348				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27861243G>T	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"""Histones / Replication-dependent"""	4758	protein-coding gene	gene with protein product		602808	"""H2B histone family, member N"", ""histone 1, H2bo"""	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.3G>T	6.37:g.27861243G>T	ENSP00000303408:p.Met1Ile					HIST1H3J_uc003nka.2_5'Flank|HIST1H2AM_uc003nkb.1_5'Flank	p.M1I	NM_003527	NP_003518	P23527	H2B1O_HUMAN			1	41	+			1					Q3KPI7|Q8TCV6	Missense_Mutation	SNP	ENST00000303806.4	37	c.3G>T	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161332	0.57368	.	.	ENSG00000196331	ENST00000303806	T	0.17213	2.29	3.7	1.89	0.25635	.	.	.	.	.	T	0.05777	0.0151	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10200	-1.0640	8	0.87932	D	0	.	7.6294	0.28230	0.0918:0.0:0.7451:0.1631	.	1	P23527	H2B1O_HUMAN	I	1	ENSP00000303408:M1I	ENSP00000303408:M1I	M	+	3	0	HIST1H2BO	27969222	1.000000	0.71417	0.741000	0.31004	0.129000	0.20672	5.049000	0.64244	0.526000	0.28541	0.561000	0.74099	ATG		PASS	0.502	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527	Missense_Mutation	4	32	4	32	---	---	---	---
HIST1H2BO	8348	broad.mit.edu	37	6	27861400	27861400	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:27861400G>T	ENST00000303806.4	+	1	198	c.160G>T	c.(160-162)Ggc>Tgc	p.G54C	HIST1H2AM_ENST00000359611.2_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	54					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G54C(1)									CCCCGACACCGGCATCTCATC	0.557																																						uc003nkc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(160-162)GGC>TGC		histone cluster 1, H2bo							161.0	145.0	150.0					6																	27861400		2203	4300	6503	SO:0001583	missense	8348				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27861400G>T	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"""Histones / Replication-dependent"""	4758	protein-coding gene	gene with protein product		602808	"""H2B histone family, member N"", ""histone 1, H2bo"""	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.160G>T	6.37:g.27861400G>T	ENSP00000303408:p.Gly54Cys					HIST1H3J_uc003nka.2_5'Flank|HIST1H2AM_uc003nkb.1_5'Flank	p.G54C	NM_003527	NP_003518	P23527	H2B1O_HUMAN			1	198	+			54					Q3KPI7|Q8TCV6	Missense_Mutation	SNP	ENST00000303806.4	37	c.160G>T	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949712	0.73787	.	.	ENSG00000196331	ENST00000303806	T	0.69806	-0.43	3.55	3.55	0.40652	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.84853	0.5564	H	0.95850	3.73	0.53005	D	0.99996	D	0.89917	1.0	D	0.81914	0.995	D	0.89504	0.3766	9	0.87932	D	0	.	14.9186	0.70818	0.0:0.0:1.0:0.0	.	54	P23527	H2B1O_HUMAN	C	54	ENSP00000303408:G54C	ENSP00000303408:G54C	G	+	1	0	HIST1H2BO	27969379	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	7.035000	0.76517	2.275000	0.75901	0.561000	0.74099	GGC		PASS	0.557	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		14	90	14	90	---	---	---	---
ZKSCAN4	387032	broad.mit.edu	37	6	28214766	28214766	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:28214766A>T	ENST00000377294.2	-	4	1002	c.759T>A	c.(757-759)caT>caA	p.H253Q	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.H98Q	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	253	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.H253Q(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CCAGGCTGCTATGGTTCTCCT	0.463																																						uc003nks.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(757-759)CAT>CAA		zinc finger with KRAB and SCAN domains 4							150.0	138.0	142.0					6																	28214766		2203	4300	6503	SO:0001583	missense	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28214766A>T	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.759T>A	6.37:g.28214766A>T	ENSP00000366509:p.His253Gln					ZKSCAN4_uc011dlb.1_Missense_Mutation_p.H98Q	p.H253Q	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN			4	1003	-			253			KRAB.		B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	c.759T>A	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.397057	0.25205	.	.	ENSG00000187626	ENST00000377294;ENST00000423974	T;T	0.01725	4.67;4.67	4.11	-3.27	0.05048	Krueppel-associated box (4);	.	.	.	.	T	0.00468	0.0015	L	0.40543	1.245	0.09310	N	1	P	0.35821	0.523	B	0.33392	0.163	T	0.44605	-0.9317	9	0.30078	T	0.28	.	2.1226	0.03730	0.2369:0.391:0.2448:0.1273	.	253	Q969J2	ZKSC4_HUMAN	Q	253;98	ENSP00000366509:H253Q;ENSP00000401978:H98Q	ENSP00000366509:H253Q	H	-	3	2	ZKSCAN4	28322745	0.000000	0.05858	0.000000	0.03702	0.463000	0.32649	-0.689000	0.05144	-0.571000	0.06014	0.533000	0.62120	CAT		PASS	0.463	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		23	36	23	36	---	---	---	---
OR2B3	442184	broad.mit.edu	37	6	29054686	29054686	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:29054686G>A	ENST00000377173.2	-	1	404	c.340C>T	c.(340-342)Ctt>Ttt	p.L114F		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L114F(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						ACAGCCAGAAGGAGACACTCT	0.468																																						uc003nlx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(340-342)CTT>TTT		olfactory receptor, family 2, subfamily B,							105.0	102.0	103.0					6																	29054686		2203	4300	6503	SO:0001583	missense	442184							g.chr6:29054686G>A		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.340C>T	6.37:g.29054686G>A	ENSP00000366378:p.Leu114Phe						p.L114F	NM_001005226	NP_001005226					1	405	-								B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	37	c.340C>T	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399284	0.42512	.	.	ENSG00000204703	ENST00000377173	T	0.02737	4.18	3.9	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31747	U	0.007136	T	0.08670	0.0215	M	0.89904	3.07	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03287	-1.1052	10	0.72032	D	0.01	.	8.3128	0.32082	0.1069:0.0:0.7344:0.1587	.	114	O76000	OR2B3_HUMAN	F	114	ENSP00000366378:L114F	ENSP00000366378:L114F	L	-	1	0	OR2B3	29162665	0.009000	0.17119	0.948000	0.38648	0.941000	0.58515	0.017000	0.13399	1.696000	0.51158	0.579000	0.79373	CTT		PASS	0.468	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			6	28	6	28	---	---	---	---
OR12D2	26529	broad.mit.edu	37	6	29364805	29364805	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:29364805C>G	ENST00000383555.2	+	1	390	c.329C>G	c.(328-330)tCc>tGc	p.S110C	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S110C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						AGCACGGAGTCCATGTTGTTC	0.498																																						uc003nmf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(328-330)TCC>TGC		olfactory receptor, family 12, subfamily D,							86.0	88.0	87.0					6																	29364805		1509	2708	4217	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29364805C>G		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.329C>G	6.37:g.29364805C>G	ENSP00000373047:p.Ser110Cys						p.S110C	NM_013936	NP_039224	P58182	O12D2_HUMAN			1	390	+			110			Helical; Name=3; (Potential).		B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.329C>G	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.554585	0.00918	.	.	ENSG00000168787	ENST00000383555	T	0.01068	5.38	3.94	-0.109	0.13584	GPCR, rhodopsin-like superfamily (1);	0.320112	0.26627	N	0.023340	T	0.00109	0.0003	N	0.00633	-1.31	0.09310	N	1	P	0.35944	0.529	B	0.38755	0.281	T	0.11717	-1.0576	10	0.02654	T	1	.	1.4909	0.02456	0.2466:0.2272:0.3551:0.1711	.	110	P58182	O12D2_HUMAN	C	110	ENSP00000373047:S110C	ENSP00000373047:S110C	S	+	2	0	OR12D2	29472784	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.281000	0.01157	-0.272000	0.09259	0.205000	0.17691	TCC		PASS	0.498	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			22	33	22	33	---	---	---	---
ABCF1	23	broad.mit.edu	37	6	30553957	30553957	+	Missense_Mutation	SNP	G	G	T	rs369065380		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:30553957G>T	ENST00000326195.8	+	18	1872	c.1760G>T	c.(1759-1761)cGa>cTa	p.R587L	ABCF1_ENST00000376545.3_Missense_Mutation_p.R549L|MIR877_ENST00000401282.1_RNA|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	587					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)	p.R587L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CAGAAATGCCGACGGAAAAAC	0.547																																						uc003nql.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1759-1761)CGA>CTA		ATP-binding cassette, sub-family F, member 1							59.0	63.0	62.0					6																	30553957		2203	4300	6503	SO:0001583	missense	23				inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30553957G>T	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1760G>T	6.37:g.30553957G>T	ENSP00000313603:p.Arg587Leu					ABCF1_uc003nqm.2_Missense_Mutation_p.R549L|ABCF1_uc010jsb.2_Intron	p.R587L	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN			18	1855	+			587					A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	c.1760G>T	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721763	0.68959	.	.	ENSG00000204574	ENST00000326195;ENST00000376545	T;T	0.50001	1.59;0.76	4.8	4.8	0.61643	.	0.271360	0.35096	N	0.003458	T	0.38585	0.1046	L	0.56769	1.78	0.80722	D	1	P;P	0.40398	0.716;0.716	P;P	0.45232	0.474;0.474	T	0.45527	-0.9255	10	0.87932	D	0	-12.5788	10.3956	0.44198	0.091:0.0:0.909:0.0	.	549;587	Q2L6I2;Q8NE71	.;ABCF1_HUMAN	L	587;549	ENSP00000313603:R587L;ENSP00000365728:R549L	ENSP00000313603:R587L	R	+	2	0	ABCF1	30661936	0.998000	0.40836	0.946000	0.38457	0.983000	0.72400	3.983000	0.56916	2.499000	0.84300	0.555000	0.69702	CGA		PASS	0.547	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			4	29	4	29	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31691568	31691568	+	5'Flank	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:31691568C>T	ENST00000375819.2	-	0	0				C6orf25_ENST00000375810.4_Missense_Mutation_p.P72S|C6orf25_ENST00000375805.2_Missense_Mutation_p.P72S|LY6G6C_ENST00000495859.1_5'Flank|C6orf25_ENST00000375809.3_Missense_Mutation_p.P72S|C6orf25_ENST00000480039.1_Missense_Mutation_p.P72S	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.P72S(2)		NS(1)|large_intestine(1)|lung(1)|skin(1)	4						GAGCGGGACCCCCACCGTGCC	0.697																																						uc011doc.1																			2	Substitution - Missense(2)		lung(2)		0						c.(214-216)CCC>TCC		G6B protein isoform G6b-B precursor							47.0	56.0	53.0					6																	31691568		2202	4298	6500	SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31691568C>T		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31691568C>T	Exception_encountered					LY6G6C_uc003nwh.2_5'Flank|LY6G6C_uc010jtd.2_5'Flank|C6orf25_uc003nwk.2_Missense_Mutation_p.P72S|C6orf25_uc011dod.1_Missense_Mutation_p.P72S|C6orf25_uc011doe.1_Missense_Mutation_p.P72S|C6orf25_uc003nwo.2_Missense_Mutation_p.P72S|C6orf25_uc003nwn.2_Missense_Mutation_p.P72S	p.P72S	NM_138272	NP_612116	O95866	G6B_HUMAN			2	214	+			72			Extracellular (Potential).		Q5SRS8|Q8IY94	Missense_Mutation	SNP	ENST00000375819.2	37	c.214C>T	CCDS4714.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728093	0.48833	.	.	ENSG00000204420	ENST00000480039;ENST00000375810;ENST00000375805;ENST00000375809;ENST00000375804;ENST00000375814;ENST00000375806	T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15	4.79	3.01	0.34805	Immunoglobulin subtype (1);	0.134165	0.34628	N	0.003810	T	0.50514	0.1620	L	0.36672	1.1	0.36216	D	0.851702	D;B;B;P;P;P	0.67145	0.996;0.336;0.336;0.748;0.595;0.595	D;B;B;B;B;B	0.78314	0.991;0.201;0.201;0.319;0.201;0.201	T	0.57382	-0.7821	10	0.87932	D	0	-16.8905	7.0245	0.24932	0.0:0.7953:0.0:0.2047	.	72;72;72;72;72;72	O95866-3;O95866-5;O95866;O95866-4;O95866-7;B0V023	.;.;G6B_HUMAN;.;.;.	S	72	ENSP00000419306:P72S;ENSP00000364968:P72S;ENSP00000364963:P72S;ENSP00000364967:P72S;ENSP00000364962:P72S;ENSP00000364972:P72S;ENSP00000364964:P72S	ENSP00000364962:P72S	P	+	1	0	C6orf25	31799547	0.642000	0.27260	0.287000	0.24848	0.354000	0.29330	2.684000	0.46951	0.634000	0.30469	0.491000	0.48974	CCC		PASS	0.697	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			11	37	11	37	---	---	---	---
KIFC1	3833	broad.mit.edu	37	6	33373395	33373395	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:33373395C>T	ENST00000428849.2	+	7	1973	c.1523C>T	c.(1522-1524)tCc>tTc	p.S508F		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	508	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)	p.S508F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GTCCCTGTCTCCTGTGAGAAA	0.587																																						uc003oef.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1522-1524)TCC>TTC		kinesin family member C1							20.0	21.0	21.0					6																	33373395		2198	4293	6491	SO:0001583	missense	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33373395C>T	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1523C>T	6.37:g.33373395C>T	ENSP00000393963:p.Ser508Phe					KIFC1_uc011drf.1_Missense_Mutation_p.S500F	p.S508F	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN			7	1973	+			508			Kinesin-motor.		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.1523C>T	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121987	0.56613	.	.	ENSG00000237649	ENST00000428849	T	0.75938	-0.98	5.06	5.06	0.68205	Kinesin, motor domain (4);	0.442331	0.25138	N	0.032846	T	0.67878	0.2940	L	0.49778	1.585	0.43540	D	0.995835	P;P	0.44281	0.831;0.831	P;P	0.47299	0.543;0.543	T	0.68093	-0.5500	10	0.38643	T	0.18	-11.6287	15.9578	0.79898	0.0:1.0:0.0:0.0	.	500;508	B4E063;Q9BW19	.;KIFC1_HUMAN	F	508	ENSP00000393963:S508F	ENSP00000393963:S508F	S	+	2	0	KIFC1	33481373	0.895000	0.30542	1.000000	0.80357	0.996000	0.88848	1.536000	0.36072	2.638000	0.89438	0.655000	0.94253	TCC		PASS	0.587	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		5	10	5	10	---	---	---	---
GNMT	27232	broad.mit.edu	37	6	42930890	42930890	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:42930890C>T	ENST00000372808.3	+	4	542	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C		NM_018960.4	NP_061833.1	Q14749	GNMT_HUMAN	glycine N-methyltransferase	178					cellular protein modification process (GO:0006464)|glycogen metabolic process (GO:0005977)|methionine metabolic process (GO:0006555)|one-carbon metabolic process (GO:0006730)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|S-adenosylmethionine metabolic process (GO:0046500)	cytoplasm (GO:0005737)	folic acid binding (GO:0005542)|glycine binding (GO:0016594)|glycine N-methyltransferase activity (GO:0017174)	p.R178C(1)		kidney(2)|large_intestine(1)|lung(1)	4	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	CATTGATCATCGCAACTACGA	0.627																																						uc003otd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(532-534)CGC>TGC		glycine N-methyltransferase	Glycine(DB00145)|S-Adenosylmethionine(DB00118)						41.0	39.0	40.0					6																	42930890		2203	4300	6503	SO:0001583	missense	27232				protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process		folic acid binding|glycine binding|glycine N-methyltransferase activity	g.chr6:42930890C>T	AF101475	CCDS4876.1	6p12	2008-02-05			ENSG00000124713	ENSG00000124713			4415	protein-coding gene	gene with protein product		606628				10843803, 9495250	Standard	NM_018960		Approved		uc003otd.3	Q14749	OTTHUMG00000014712	ENST00000372808.3:c.532C>T	6.37:g.42930890C>T	ENSP00000361894:p.Arg178Cys					uc003ote.1_5'Flank	p.R178C	NM_018960	NP_061833	Q14749	GNMT_HUMAN	all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		4	538	+	Colorectal(47;0.196)		178				Substrate (By similarity).	Q5T8W2|Q9NNZ1|Q9NS24	Missense_Mutation	SNP	ENST00000372808.3	37	c.532C>T	CCDS4876.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231510	0.79688	.	.	ENSG00000124713	ENST00000372808	T	0.68331	-0.32	5.74	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.78748	0.4332	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80094	-0.1526	10	0.56958	D	0.05	-6.3785	13.1533	0.59503	0.2777:0.7223:0.0:0.0	.	178	Q14749	GNMT_HUMAN	C	178	ENSP00000361894:R178C	ENSP00000361894:R178C	R	+	1	0	GNMT	43038868	0.998000	0.40836	0.972000	0.41901	0.887000	0.51463	2.030000	0.41108	2.720000	0.93068	0.561000	0.74099	CGC		PASS	0.627	GNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040568.1	NM_018960		5	26	5	26	---	---	---	---
RHAG	6005	broad.mit.edu	37	6	49582417	49582417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:49582417G>A	ENST00000371175.4	-	5	816	c.790C>T	c.(790-792)Cga>Tga	p.R264*	RHAG_ENST00000229810.7_Nonsense_Mutation_p.R264*	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	264					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.R264*(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AGCTTGCCTCGGTGCTCCACT	0.498																																					Ovarian(176;476 2003 7720 43408 44749)	uc003ozk.3																			1	Substitution - Nonsense(1)		lung(1)	breast(1)|skin(1)	2						c.(790-792)CGA>TGA		Rh-associated glycoprotein							189.0	160.0	170.0					6																	49582417		2203	4300	6503	SO:0001587	stop_gained	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49582417G>A		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.790C>T	6.37:g.49582417G>A	ENSP00000360217:p.Arg264*					RHAG_uc010jzl.2_Nonsense_Mutation_p.R264*|RHAG_uc010jzm.2_Nonsense_Mutation_p.R264*	p.R264*	NM_000324	NP_000315	Q02094	RHAG_HUMAN			5	852	-	Lung NSC(77;0.0255)		264			Cytoplasmic (Potential).		B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Nonsense_Mutation	SNP	ENST00000371175.4	37	c.790C>T	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893552	0.52121	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	.	.	.	5.35	-6.35	0.01975	.	0.338853	0.33959	N	0.004397	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	2.3064	7.1245	0.25463	0.0569:0.3044:0.1315:0.5072	.	.	.	.	X	264	.	ENSP00000229810:R264X	R	-	1	2	RHAG	49690376	0.009000	0.17119	0.000000	0.03702	0.015000	0.08874	0.365000	0.20348	-2.068000	0.00884	-0.834000	0.03071	CGA		PASS	0.498	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			3	67	3	67	---	---	---	---
KHDRBS2	202559	broad.mit.edu	37	6	62604627	62604627	+	Silent	SNP	A	A	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:62604627A>G	ENST00000281156.4	-	6	1001	c.723T>C	c.(721-723)ggT>ggC	p.G241G		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	241	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.G241G(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GGGTAGGGACACCTCTTGCTA	0.592																																						uc003peg.2																			1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(3)|liver(1)	11						c.(721-723)GGT>GGC		KH domain-containing, RNA-binding, signal							55.0	56.0	55.0					6																	62604627		2203	4300	6503	SO:0001819	synonymous_variant	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62604627A>G	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.723T>C	6.37:g.62604627A>G							p.G241G	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	6	970	-			241			Pro-rich.		A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	ENST00000281156.4	37	c.723T>C	CCDS4963.1																																																																																				PASS	0.592	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		9	44	9	44	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75865550	75865550	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:75865550T>C	ENST00000322507.8	-	16	3580	c.3271A>G	c.(3271-3273)Aga>Gga	p.R1091G	COL12A1_ENST00000416123.2_Missense_Mutation_p.R1091G|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.R1091G	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1091	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.R1091G(1)		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						TTGAGGTTTCTAGGAGACTTA	0.413																																						uc003phs.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(3271-3273)AGA>GGA		collagen, type XII, alpha 1 long isoform							85.0	87.0	87.0					6																	75865550		1817	4074	5891	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.chr6:75865550T>C	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.3271A>G	6.37:g.75865550T>C	ENSP00000325146:p.Arg1091Gly					COL12A1_uc003pht.2_Intron	p.R1091G	NM_004370	NP_004361	Q99715	COCA1_HUMAN			16	3437	-			1091			Fibronectin type-III 8.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.3271A>G	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.588232	0.66105	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.57436	0.4;0.4;0.4	5.66	4.43	0.53597	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.274256	0.38959	N	0.001507	T	0.61924	0.2386	M	0.71296	2.17	0.47214	D	0.999356	D	0.89917	1.0	D	0.80764	0.994	T	0.62680	-0.6803	10	0.42905	T	0.14	.	12.6644	0.56833	0.0:0.0:0.2446:0.7554	.	1091	Q99715	COCA1_HUMAN	G	1091	ENSP00000325146:R1091G;ENSP00000412864:R1091G;ENSP00000421216:R1091G	ENSP00000325146:R1091G	R	-	1	2	COL12A1	75922270	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.388000	0.44398	2.284000	0.76573	0.528000	0.53228	AGA		PASS	0.413	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		37	51	37	51	---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85472425	85472425	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:85472425C>T	ENST00000369663.5	-	2	671	c.334G>A	c.(334-336)Gcg>Acg	p.A112T	TBX18_ENST00000606784.1_5'UTR|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	112					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.A112T(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CCCGGTGACGCCAGAGGGGAA	0.711																																						uc003pkl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|lung(1)	5						c.(334-336)GCG>ACG		T-box 18																																				SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85472425C>T	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.334G>A	6.37:g.85472425C>T	ENSP00000358677:p.Ala112Thr					TBX18_uc010kbq.1_5'UTR	p.A112T	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	2	334	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	112					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.334G>A	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	C	7.585	0.669578	0.14776	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	D	0.87103	-2.21	5.74	3.96	0.45880	.	1.202690	0.05430	N	0.545688	T	0.56963	0.2021	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.50285	-0.8846	10	0.16896	T	0.51	.	10.4658	0.44607	0.0:0.5574:0.3741:0.0684	.	112	O95935	TBX18_HUMAN	T	27;112	ENSP00000358677:A112T	ENSP00000358677:A112T	A	-	1	0	TBX18	85529144	0.019000	0.18553	0.318000	0.25279	0.011000	0.07611	2.324000	0.43831	0.782000	0.33613	-0.304000	0.09214	GCG		PASS	0.711	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		10	14	10	14	---	---	---	---
MMS22L	253714	broad.mit.edu	37	6	97613216	97613216	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:97613216C>A	ENST00000275053.4	-	21	3392	c.3127G>T	c.(3127-3129)Gat>Tat	p.D1043Y	MMS22L_ENST00000369251.2_Missense_Mutation_p.D1003Y	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1043					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.D1043Y(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTCCAAGATCTGAAACATAT	0.383																																						uc003ppb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3127-3129)GAT>TAT		hypothetical protein LOC253714							130.0	123.0	126.0					6																	97613216		2203	4300	6503	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97613216C>A		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3127G>T	6.37:g.97613216C>A	ENSP00000275053:p.Asp1043Tyr					C6orf167_uc011eaf.1_Missense_Mutation_p.D1003Y	p.D1043Y	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	21	3393	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	1043					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.3127G>T	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389850	0.25118	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.34667	3.59;1.35	5.79	3.09	0.35607	.	0.822846	0.11686	N	0.539336	T	0.08268	0.0206	N	0.22421	0.69	0.09310	N	1	P;P	0.48016	0.904;0.904	B;B	0.34301	0.179;0.179	T	0.08868	-1.0701	10	0.59425	D	0.04	-19.1451	7.4802	0.27400	0.0:0.6816:0.12:0.1984	.	1003;1043	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	Y	1043;1003	ENSP00000275053:D1043Y;ENSP00000358254:D1003Y	ENSP00000275053:D1043Y	D	-	1	0	MMS22L	97719937	0.000000	0.05858	0.000000	0.03702	0.747000	0.42532	1.111000	0.31159	0.381000	0.24851	0.655000	0.94253	GAT		PASS	0.383	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		11	50	11	50	---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100838775	100838775	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:100838775G>A	ENST00000369208.3	-	12	2545	c.1763C>T	c.(1762-1764)cCc>cTc	p.P588L	SIM1_ENST00000262901.4_Missense_Mutation_p.P588L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	588	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.P588L(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTGGTCTGAGGGGGCTTTCCT	0.463																																						uc003pqj.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1762-1764)CCC>CTC		single-minded homolog 1							79.0	78.0	79.0					6																	100838775		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838775G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1763C>T	6.37:g.100838775G>A	ENSP00000358210:p.Pro588Leu					SIM1_uc010kcu.2_Missense_Mutation_p.P588L	p.P588L	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	1970	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	588			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1763C>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521533	0.27211	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.33654	1.4;1.4	5.82	5.82	0.92795	Single-minded, C-terminal (2);	0.267686	0.43579	D	0.000554	T	0.14527	0.0351	N	0.19112	0.55	0.44227	D	0.997069	B	0.23442	0.085	B	0.24974	0.057	T	0.04522	-1.0945	10	0.29301	T	0.29	.	15.5823	0.76455	0.0:0.137:0.863:0.0	.	588	P81133	SIM1_HUMAN	L	588	ENSP00000358210:P588L;ENSP00000262901:P588L	ENSP00000262901:P588L	P	-	2	0	SIM1	100945496	1.000000	0.71417	0.384000	0.26145	0.936000	0.57629	2.619000	0.46401	2.759000	0.94783	0.557000	0.71058	CCC		PASS	0.463	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		9	43	9	43	---	---	---	---
GRIK2	2898	broad.mit.edu	37	6	102124644	102124644	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:102124644T>G	ENST00000421544.1	+	4	1178	c.688T>G	c.(688-690)Tgt>Ggt	p.C230G	GRIK2_ENST00000369138.1_Missense_Mutation_p.C230G|GRIK2_ENST00000318991.6_Missense_Mutation_p.C230G|GRIK2_ENST00000369134.4_Missense_Mutation_p.C181G|GRIK2_ENST00000413795.1_Missense_Mutation_p.C230G|GRIK2_ENST00000369137.3_Missense_Mutation_p.C230G|GRIK2_ENST00000358361.3_Missense_Mutation_p.C230G	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	230					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|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 cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.C230G(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AATCTTTGATTGTAGCCATGA	0.338																																						uc003pqp.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(688-690)TGT>GGT		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						76.0	78.0	77.0					6																	102124644		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102124644T>G		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.688T>G	6.37:g.102124644T>G	ENSP00000397026:p.Cys230Gly					GRIK2_uc003pqn.2_Missense_Mutation_p.C230G|GRIK2_uc003pqo.3_Missense_Mutation_p.C230G|GRIK2_uc010kcw.2_Missense_Mutation_p.C230G	p.C230G	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	4	937	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	230			Extracellular (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.688T>G	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.193580	0.78902	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610	D;D;D;D;D;D;D;T	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;2.19	5.77	5.77	0.91146	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89681	0.6785	M	0.79258	2.445	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.91190	0.4983	10	0.87932	D	0	.	16.0977	0.81139	0.0:0.0:0.0:1.0	.	230;230;230	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	G	230;230;230;230;230;230;230;181;192;1	ENSP00000397026:C230G;ENSP00000405596:C230G;ENSP00000358134:C230G;ENSP00000351128:C230G;ENSP00000358133:C230G;ENSP00000313276:C230G;ENSP00000358130:C181G;ENSP00000391988:C1G	ENSP00000313276:C230G	C	+	1	0	GRIK2	102231337	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.039000	0.88947	2.216000	0.71823	0.528000	0.53228	TGT		PASS	0.338	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			16	37	16	37	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117662333	117662333	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:117662333C>A	ENST00000368508.3	-	30	5242	c.5044G>T	c.(5044-5046)Gtt>Ttt	p.V1682F	ROS1_ENST00000368507.3_Missense_Mutation_p.V1676F|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1682	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.V1682F(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)		ATGAGGTTAACATTCAATGGA	0.358			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.(5044-5046)GTT>TTT		proto-oncogene c-ros-1 protein precursor							105.0	103.0	104.0					6																	117662333		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.chr6:117662333C>A	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.5044G>T	6.37:g.117662333C>A	ENSP00000357494:p.Val1682Phe					ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron	p.V1682F	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)	30	5243	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1682			Fibronectin type-III 8.|Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.5044G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678550	0.47886	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.57907	0.37;0.37	5.1	4.22	0.49857	.	0.642413	0.14427	N	0.320248	T	0.30510	0.0767	L	0.27053	0.805	0.36046	D	0.840403	P	0.40731	0.728	B	0.43623	0.425	T	0.25328	-1.0135	10	0.62326	D	0.03	.	9.8782	0.41216	0.0:0.9017:0.0:0.0983	.	1682	P08922	ROS1_HUMAN	F	1682;1676	ENSP00000357494:V1682F;ENSP00000357493:V1676F	ENSP00000357493:V1676F	V	-	1	0	ROS1	117769026	0.036000	0.19791	0.945000	0.38365	0.622000	0.37654	0.937000	0.28951	2.385000	0.81259	0.650000	0.86243	GTT		PASS	0.358	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			3	46	3	46	---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123545265	123545265	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:123545265C>G	ENST00000398178.3	-	39	2008	c.1987G>C	c.(1987-1989)Gat>Cat	p.D663H	TRDN_ENST00000334268.4_Missense_Mutation_p.D655H	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	663					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.D663H(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)		GCTGGTACATCTTCAACATCT	0.328																																						uc003pzj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1987-1989)GAT>CAT		triadin							88.0	84.0	85.0					6																	123545265		1818	4082	5900	SO:0001583	missense	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123545265C>G	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.1987G>C	6.37:g.123545265C>G	ENSP00000381240:p.Asp663His					TRDN_uc010kem.1_Missense_Mutation_p.D164H	p.D663H	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	39	2009	-			663			Lumenal.		A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	c.1987G>C	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005188	0.35415	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.23552	1.96;1.9	4.38	4.38	0.52667	.	0.569009	0.15506	N	0.258783	T	0.09335	0.0230	N	0.19112	0.55	0.58432	D	0.999999	P	0.44309	0.832	B	0.39738	0.308	T	0.08046	-1.0741	10	0.39692	T	0.17	-0.6965	12.6813	0.56924	0.0:1.0:0.0:0.0	.	663	Q13061	TRDN_HUMAN	H	663;665;655	ENSP00000381240:D663H;ENSP00000333984:D655H	ENSP00000333984:D655H	D	-	1	0	TRDN	123586964	0.900000	0.30661	0.263000	0.24496	0.191000	0.23601	2.133000	0.42093	2.412000	0.81896	0.644000	0.83932	GAT		PASS	0.328	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				7	19	7	19	---	---	---	---
ENPP3	5169	broad.mit.edu	37	6	132004193	132004193	+	Splice_Site	SNP	G	G	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:132004193G>C	ENST00000414305.1	+	13	1339		c.e13-1		ENPP3_ENST00000427148.2_Splice_Site|ENPP3_ENST00000357639.3_Splice_Site|ENPP3_ENST00000358229.5_Splice_Site			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3						immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.?(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TTATTTTTCAGGTAATTAAAG	0.363																																						uc003qcu.3																			1	Unknown(1)		lung(1)	ovary(3)|skin(1)	4						c.e13-1		ectonucleotide pyrophosphatase/phosphodiesterase							141.0	137.0	139.0					6																	132004193		2203	4300	6503	SO:0001630	splice_region_variant	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132004193G>C	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1012-1G>C	6.37:g.132004193G>C						ENPP3_uc010kfo.1_Splice_Site|ENPP3_uc010kfp.1_Splice_Site|ENPP3_uc010kfq.2_Splice_Site|ENPP3_uc003qcv.2_Splice_Site_p.V338_splice	p.V338_splice	NM_005021	NP_005012	O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	13	1359	+	Breast(56;0.0753)							Q5JTL3	Splice_Site	SNP	ENST00000414305.1	37	c.1012_splice	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152972	0.78001	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8811	0.88841	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ENPP3	132045886	1.000000	0.71417	0.995000	0.50966	0.964000	0.63967	7.706000	0.84615	2.599000	0.87857	0.650000	0.86243	.		PASS	0.363	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2		Intron	12	36	12	36	---	---	---	---
EYA4	2070	broad.mit.edu	37	6	133703559	133703559	+	Silent	SNP	T	T	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:133703559T>A	ENST00000367895.5	+	3	527	c.63T>A	c.(61-63)gtT>gtA	p.V21V	EYA4_ENST00000430974.2_Silent_p.V21V|EYA4_ENST00000452339.2_Silent_p.V21V|EYA4_ENST00000355167.3_Silent_p.V21V|EYA4_ENST00000355286.6_Silent_p.V21V|EYA4_ENST00000525849.1_Silent_p.V21V|EYA4_ENST00000531901.1_Silent_p.V21V|EYA4_ENST00000431403.2_Silent_p.V21V	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	21					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.V21V(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AATCAGATGTTTCACAATCTC	0.373																																					Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)	2						c.(61-63)GTT>GTA		eyes absent 4 isoform a							155.0	169.0	165.0					6																	133703559		2203	4300	6503	SO:0001819	synonymous_variant	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133703559T>A	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.63T>A	6.37:g.133703559T>A						EYA4_uc011ecq.1_Silent_p.V21V|EYA4_uc011ecr.1_Silent_p.V21V|EYA4_uc003qed.3_Silent_p.V21V|EYA4_uc003qee.3_Silent_p.V21V|EYA4_uc011ecs.1_Silent_p.V21V	p.V21V	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	3	521	+	Colorectal(23;0.221)		21					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	ENST00000367895.5	37	c.63T>A	CCDS5165.1																																																																																				PASS	0.373	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		32	88	32	88	---	---	---	---
SGK1	6446	broad.mit.edu	37	6	134495154	134495154	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:134495154G>A	ENST00000237305.7	-	3	305	c.217C>T	c.(217-219)Cct>Tct	p.P73S	SGK1_ENST00000367857.5_Missense_Mutation_p.P63S|SGK1_ENST00000367858.5_Missense_Mutation_p.P168S|SGK1_ENST00000528577.1_Missense_Mutation_p.P101S|SGK1_ENST00000475719.2_Missense_Mutation_p.P73S|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000413996.3_Missense_Mutation_p.P87S	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	73					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.P73S(2)|p.P168S(2)|p.P63S(1)|p.P101S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GGAGGAGAAGGGTTGGCATTC	0.438																																						uc003qen.3																			6	Substitution - Missense(6)		lung(4)|haematopoietic_and_lymphoid_tissue(2)	skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6						c.(217-219)CCT>TCT		serum/glucocorticoid regulated kinase 1 isoform							150.0	145.0	147.0					6																	134495154		2203	4300	6503	SO:0001583	missense	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134495154G>A	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.217C>T	6.37:g.134495154G>A	ENSP00000237305:p.Pro73Ser					SGK1_uc003qeo.3_Missense_Mutation_p.P168S|SGK1_uc011ect.1_Missense_Mutation_p.P63S|SGK1_uc011ecu.1_Missense_Mutation_p.P73S|SGK1_uc011ecv.1_Missense_Mutation_p.P87S|SGK1_uc011ecw.1_Missense_Mutation_p.P101S	p.P73S	NM_005627	NP_005618	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	3	306	-	Colorectal(23;0.221)		73					B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	c.217C>T	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799278	0.50208	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719;ENST00000461976	T;T;T;T;T;T	0.73258	-0.73;-0.7;-0.68;-0.65;-0.7;-0.66	5.99	5.99	0.97316	Protein kinase-like domain (1);	0.047776	0.85682	D	0.000000	T	0.35566	0.0936	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B	0.11329	0.002;0.001;0.001;0.002;0.006;0.0	T	0.28170	-1.0052	10	0.11485	T	0.65	.	13.6422	0.62257	0.0702:0.0:0.9298:0.0	.	101;87;73;63;168;73	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	S	168;87;73;63;101;73;137	ENSP00000356832:P168S;ENSP00000396242:P87S;ENSP00000237305:P73S;ENSP00000356831:P63S;ENSP00000434450:P101S;ENSP00000434302:P73S	ENSP00000237305:P73S	P	-	1	0	SGK1	134536847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.350000	0.73017	2.840000	0.97914	0.655000	0.94253	CCT		PASS	0.438	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			16	48	16	48	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144768371	144768371	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:144768371G>T	ENST00000367545.3	+	14	1639	c.1639G>T	c.(1639-1641)Gaa>Taa	p.E547*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	547	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.E547K(2)|p.E547*(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)		TTGGTTAACCGAAAAAGAAGA	0.358																																						uc003qkt.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		large_intestine(1)|lung(1)|endometrium(1)	ovary(4)|pancreas(1)	5						c.(1639-1641)GAA>TAA		utrophin							94.0	87.0	89.0					6																	144768371		2203	4300	6503	SO:0001587	stop_gained	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.chr6:144768371G>T	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.1639G>T	6.37:g.144768371G>T	ENSP00000356515:p.Glu547*					UTRN_uc010khq.1_Nonsense_Mutation_p.E547*	p.E547*	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)	14	1731	+		Ovarian(120;0.218)	547			Interaction with SYNM.|Spectrin 4.		Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	ENST00000367545.3	37	c.1639G>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	40	8.099432	0.98654	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	.	.	.	5.71	5.71	0.89125	.	0.000000	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.855	0.96755	0.0:0.0:1.0:0.0	.	.	.	.	X	547	.	ENSP00000356499:E547X	E	+	1	0	UTRN	144810064	1.000000	0.71417	0.990000	0.47175	0.920000	0.55202	7.932000	0.87634	2.691000	0.91804	0.561000	0.74099	GAA		PASS	0.358	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			4	17	4	17	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152673328	152673328	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:152673328C>A	ENST00000367255.5	-	70	12015	c.11414G>T	c.(11413-11415)cGg>cTg	p.R3805L	SYNE1_ENST00000448038.1_Missense_Mutation_p.R3790L|SYNE1_ENST00000341594.5_Missense_Mutation_p.R3776L|SYNE1_ENST00000265368.4_Missense_Mutation_p.R3805L|SYNE1_ENST00000423061.1_Missense_Mutation_p.R3790L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3805					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.R3805L(2)|p.R3790L(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)		GTGTTCTTTCCGGACAGTGCT	0.443										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.(11413-11415)CGG>CTG		spectrin repeat containing, nuclear envelope 1							246.0	226.0	233.0					6																	152673328		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.chr6:152673328C>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.11414G>T	6.37:g.152673328C>A	ENSP00000356224:p.Arg3805Leu	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.R3790L|SYNE1_uc003qou.3_Missense_Mutation_p.R3805L|SYNE1_uc010kja.1_Missense_Mutation_p.R510L	p.R3805L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	70	12016	-		Ovarian(120;0.0955)	3805			Cytoplasmic (Potential).|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.11414G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119922	0.77323	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34275	1.38;1.38;1.38;1.38;1.37	6.04	6.04	0.98038	.	0.000000	0.51477	D	0.000096	T	0.54191	0.1843	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.39014	-0.9634	10	0.37606	T	0.19	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	3805;3805;3805;3790	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	L	3805;3790;3805;3790;3776	ENSP00000356224:R3805L;ENSP00000396024:R3790L;ENSP00000265368:R3805L;ENSP00000390975:R3790L;ENSP00000341887:R3776L	ENSP00000265368:R3805L	R	-	2	0	SYNE1	152715021	1.000000	0.71417	0.937000	0.37676	0.778000	0.44026	7.487000	0.81328	2.873000	0.98535	0.563000	0.77884	CGG		PASS	0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		30	107	30	107	---	---	---	---
TIAM2	26230	broad.mit.edu	37	6	155485735	155485735	+	Splice_Site	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr6:155485735G>T	ENST00000461783.3	+	10	3487		c.e10+1		TIAM2_ENST00000360366.4_Splice_Site|TIAM2_ENST00000456144.1_Splice_Site|TIAM2_ENST00000318981.5_Splice_Site|TIAM2_ENST00000528391.2_Splice_Site|TIAM2_ENST00000367174.2_Splice_Site|TIAM2_ENST00000529824.2_Splice_Site|TIAM2_ENST00000456877.2_Splice_Site			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2						apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|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)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCATGCTCTGGTAAGTTCCTG	0.597																																						uc003qqb.2																			1	Unknown(1)		lung(1)	ovary(3)|breast(1)	4						c.e10+1		T-cell lymphoma invasion and metastasis 2							82.0	94.0	90.0					6																	155485735		2203	4300	6503	SO:0001630	splice_region_variant	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155485735G>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2214+1G>T	6.37:g.155485735G>T						TIAM2_uc003qqe.2_Splice_Site_p.L738_splice|TIAM2_uc010kjj.2_Splice_Site_p.L271_splice|TIAM2_uc003qqf.2_Splice_Site_p.L90_splice|TIAM2_uc011efl.1_Splice_Site_p.L50_splice|TIAM2_uc003qqg.2_Splice_Site_p.L50_splice	p.L738_splice	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	10	3487	+		Ovarian(120;0.196)						B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Splice_Site	SNP	ENST00000461783.3	37	c.2214_splice	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586608	0.86851	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6918	0.91586	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TIAM2	155527427	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.790000	0.99075	2.393000	0.81446	0.650000	0.86243	.		PASS	0.597	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	Intron	25	85	25	85	---	---	---	---
RADIL	55698	broad.mit.edu	37	7	4917519	4917519	+	Silent	SNP	G	G	A	rs373825015		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr7:4917519G>A	ENST00000399583.3	-	2	439	c.252C>T	c.(250-252)acC>acT	p.T84T	RADIL_ENST00000536091.1_Silent_p.T84T	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	84	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.T84T(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TGGAGGTGCCGGTGGCCAGGA	0.682																																						uc003snj.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7						c.(250-252)ACC>ACT		Rap GTPase interactor		A		0,3968		0,0,1984	21.0	26.0	25.0		252	-11.7	0.0	7		25	3,8265		0,3,4131	no	coding-synonymous	RADIL	NM_018059.4		0,3,6115	AA,AG,GG		0.0363,0.0,0.0245		84/1076	4917519	3,12233	1984	4134	6118	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917519G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.252C>T	7.37:g.4917519G>A						RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA	p.T84T	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	425	-		Ovarian(82;0.0175)	84			Ras-associating.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.252C>T	CCDS43544.1																																																																																				PASS	0.682	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		3	45	3	45	---	---	---	---
NEUROD6	63974	broad.mit.edu	37	7	31378224	31378224	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr7:31378224G>A	ENST00000297142.3	-	2	981	c.659C>T	c.(658-660)cCa>cTa	p.P220L		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	220					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P220L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CCCATGCCCTGGGGGAGTGGT	0.527																																						uc003tch.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(658-660)CCA>CTA		neurogenic differentiation 6							112.0	92.0	99.0					7																	31378224		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378224G>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.659C>T	7.37:g.31378224G>A	ENSP00000297142:p.Pro220Leu						p.P220L	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	1012	-			220					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.659C>T	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.651300	0.67472	.	.	ENSG00000164600	ENST00000297142	T	0.65364	-0.15	5.32	5.32	0.75619	Neurogenic differentiation factor, domain of unknown function (1);	0.105403	0.64402	D	0.000003	T	0.67468	0.2896	M	0.74467	2.265	0.80722	D	1	P	0.34892	0.474	B	0.37267	0.245	T	0.70817	-0.4769	10	0.56958	D	0.05	-13.5137	19.0046	0.92844	0.0:0.0:1.0:0.0	.	220	Q96NK8	NDF6_HUMAN	L	220	ENSP00000297142:P220L	ENSP00000297142:P220L	P	-	2	0	NEUROD6	31344749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.167000	0.94773	2.481000	0.83766	0.650000	0.86243	CCA		PASS	0.527	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		18	53	18	53	---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42007296	42007296	+	Missense_Mutation	SNP	G	G	C	rs201321024		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr7:42007296G>C	ENST00000395925.3	-	14	2413	c.2329C>G	c.(2329-2331)Cac>Gac	p.H777D	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	777					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H777D(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGTTTTACGTGCTCCATCCAT	0.502									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1																			1	Substitution - Missense(1)		lung(1)	lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(2329-2331)CAC>GAC		GLI-Kruppel family member GLI3							253.0	239.0	244.0					7																	42007296		2203	4300	6503	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42007296G>C		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2329C>G	7.37:g.42007296G>C	ENSP00000379258:p.His777Asp					GLI3_uc011kbg.1_Missense_Mutation_p.H718D	p.H777D	NM_000168	NP_000159	P10071	GLI3_HUMAN			14	2420	-			777					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.2329C>G	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894282	0.52121	.	.	ENSG00000106571	ENST00000395925	T	0.13778	2.56	5.58	4.68	0.58851	.	0.140097	0.64402	D	0.000003	T	0.16428	0.0395	M	0.64997	1.995	0.80722	D	1	P	0.37233	0.588	B	0.32677	0.15	T	0.01966	-1.1238	10	0.42905	T	0.14	.	15.6735	0.77297	0.0:0.0:0.862:0.138	.	777	P10071	GLI3_HUMAN	D	777	ENSP00000379258:H777D	ENSP00000379258:H777D	H	-	1	0	GLI3	41973821	1.000000	0.71417	0.984000	0.44739	0.977000	0.68977	6.283000	0.72646	1.315000	0.45114	0.655000	0.94253	CAC		PASS	0.502	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		27	75	27	75	---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42018290	42018290	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr7:42018290C>A	ENST00000395925.3	-	11	1639	c.1555G>T	c.(1555-1557)Gac>Tac	p.D519Y	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	519					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D519Y(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTTGAGCAGTCCAGCCACCTG	0.448									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1																			1	Substitution - Missense(1)		lung(1)	lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(1555-1557)GAC>TAC		GLI-Kruppel family member GLI3							107.0	100.0	102.0					7																	42018290		2203	4300	6503	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42018290C>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1555G>T	7.37:g.42018290C>A	ENSP00000379258:p.Asp519Tyr					GLI3_uc011kbg.1_Missense_Mutation_p.D460Y	p.D519Y	NM_000168	NP_000159	P10071	GLI3_HUMAN			11	1646	-			519			C2H2-type 2.		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1555G>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146690	0.94603	.	.	ENSG00000106571	ENST00000395925	D	0.91521	-2.86	5.84	5.84	0.93424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.090549	0.85682	D	0.000000	D	0.94479	0.8223	M	0.87547	2.89	0.80722	D	1	D	0.62365	0.991	P	0.51229	0.663	D	0.94838	0.8002	10	0.72032	D	0.01	.	20.1381	0.98040	0.0:1.0:0.0:0.0	.	519	P10071	GLI3_HUMAN	Y	519	ENSP00000379258:D519Y	ENSP00000379258:D519Y	D	-	1	0	GLI3	41984815	1.000000	0.71417	0.922000	0.36590	0.997000	0.91878	7.770000	0.85390	2.763000	0.94921	0.650000	0.86243	GAC		PASS	0.448	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		12	40	12	40	---	---	---	---
MDH2	4191	broad.mit.edu	37	7	75692906	75692906	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr7:75692906C>G	ENST00000315758.5	+	6	723	c.629C>G	c.(628-630)tCt>tGt	p.S210C	MDH2_ENST00000432020.2_Missense_Mutation_p.S168C|MDH2_ENST00000443006.1_Missense_Mutation_p.S103C	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	210					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)	p.S210C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						CCCCTGATCTCTCAGGTACAC	0.562																																						uc003ueo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(628-630)TCT>TGT		mitochondrial malate dehydrogenase precursor	NADH(DB00157)						163.0	124.0	137.0					7																	75692906		2203	4300	6503	SO:0001583	missense	4191				gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity	g.chr7:75692906C>G		CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.629C>G	7.37:g.75692906C>G	ENSP00000327070:p.Ser210Cys					MDH2_uc003uep.2_Missense_Mutation_p.S103C|MDH2_uc011kgh.1_Missense_Mutation_p.S168C	p.S210C	NM_005918	NP_005909	P40926	MDHM_HUMAN			6	715	+			210					A8K414|B2RE78|B4DE44|E9PDB2|O43682	Missense_Mutation	SNP	ENST00000315758.5	37	c.629C>G	CCDS5581.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738080	0.89573	.	.	ENSG00000146701	ENST00000315758;ENST00000443006;ENST00000432020	T;T;T	0.70631	-0.5;-0.5;-0.5	5.55	5.55	0.83447	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.89574	0.6754	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.983	D	0.92561	0.6058	10	0.87932	D	0	-11.6046	18.4943	0.90858	0.0:1.0:0.0:0.0	.	168;210	E9PDB2;P40926	.;MDHM_HUMAN	C	210;103;168	ENSP00000327070:S210C;ENSP00000416929:S103C;ENSP00000408649:S168C	ENSP00000327070:S210C	S	+	2	0	MDH2	75530842	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.309000	0.78937	2.622000	0.88805	0.561000	0.74099	TCT		PASS	0.562	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252851.1			3	62	3	62	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82538240	82538240	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr7:82538240G>A	ENST00000333891.9	-	8	13727	c.13390C>T	c.(13390-13392)Ccg>Tcg	p.P4464S	PCLO_ENST00000423517.2_Missense_Mutation_p.P4464S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.P4464S(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						AATCTTTCCGGCAGTTTTCGG	0.423																																						uc003uhx.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(13390-13392)CCG>TCG		piccolo isoform 1							121.0	113.0	116.0					7																	82538240		1887	4122	6009	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.chr7:82538240G>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.13390C>T	7.37:g.82538240G>A	ENSP00000334319:p.Pro4464Ser					PCLO_uc003uhv.2_Missense_Mutation_p.P4464S	p.P4464S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			8	13679	-			4395						Missense_Mutation	SNP	ENST00000333891.9	37	c.13390C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.097104	0.37048	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.17054	2.3;2.3	5.04	5.04	0.67666	.	.	.	.	.	T	0.36524	0.0970	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.975;0.988	T	0.10042	-1.0647	9	0.87932	D	0	.	18.7409	0.91773	0.0:0.0:1.0:0.0	.	4464;4464	Q9Y6V0-5;Q9Y6V0-6	.;.	S	4464	ENSP00000334319:P4464S;ENSP00000388393:P4464S	ENSP00000334319:P4464S	P	-	1	0	PCLO	82376176	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.710000	0.74670	2.512000	0.84698	0.491000	0.48974	CCG		PASS	0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		27	37	27	37	---	---	---	---
CCDC132	55610	broad.mit.edu	37	7	92983068	92983068	+	Silent	SNP	A	A	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr7:92983068A>G	ENST00000305866.5	+	26	2708	c.2580A>G	c.(2578-2580)gtA>gtG	p.V860V	CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Silent_p.V830V|CCDC132_ENST00000535481.1_Silent_p.V580V|CCDC132_ENST00000541136.1_3'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	860						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.V860V(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GAACTATTGTAGAAGGGTAAG	0.328																																						uc003umo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2578-2580)GTA>GTG		coiled-coil domain containing 132 isoform a							123.0	118.0	120.0					7																	92983068		1826	4075	5901	SO:0001819	synonymous_variant	55610							g.chr7:92983068A>G	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2580A>G	7.37:g.92983068A>G						CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Silent_p.V830V|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Silent_p.V580V	p.V860V	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		26	2708	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		860					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Silent	SNP	ENST00000305866.5	37	c.2580A>G	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	A	9.112	1.006858	0.19199	.	.	ENSG00000004766	ENST00000443443	.	.	.	5.52	3.71	0.42584	.	.	.	.	.	T	0.61702	0.2368	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57985	-0.7716	4	.	.	.	-4.1178	10.9392	0.47264	0.2135:0.0:0.7865:0.0	.	.	.	.	G	85	.	.	R	+	1	2	CCDC132	92821004	0.987000	0.35691	1.000000	0.80357	0.943000	0.58893	0.125000	0.15749	0.800000	0.34041	-0.248000	0.11899	AGA		PASS	0.328	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		17	101	17	101	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94047860	94047860	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr7:94047860C>A	ENST00000297268.6	+	33	2492	c.2021C>A	c.(2020-2022)gCt>gAt	p.A674D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	674					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|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)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.A674D(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AGAGATGGTGCTCGTGTGAGT	0.348										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(2020-2022)GCT>GAT		alpha 2 type I collagen precursor	Collagenase(DB00048)						190.0	182.0	185.0					7																	94047860		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94047860C>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2021C>A	7.37:g.94047860C>A	ENSP00000297268:p.Ala674Asp	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_RNA	p.A674D	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		33	2492	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		674					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2021C>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537404	0.65085	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93426	-3.22	5.85	5.85	0.93711	.	0.053764	0.85682	D	0.000000	D	0.89955	0.6865	N	0.20685	0.6	0.80722	D	1	P	0.44429	0.835	B	0.43413	0.419	D	0.88474	0.3064	10	0.32370	T	0.25	.	20.5471	0.99284	0.0:1.0:0.0:0.0	.	674	P08123	CO1A2_HUMAN	D	674;675	ENSP00000297268:A674D	ENSP00000297268:A674D	A	+	2	0	COL1A2	93885796	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.022000	0.57203	2.941000	0.99782	0.655000	0.94253	GCT		PASS	0.348	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		13	49	13	49	---	---	---	---
ZNF3	7551	broad.mit.edu	37	7	99669489	99669489	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr7:99669489G>C	ENST00000424697.1	-	6	924	c.618C>G	c.(616-618)agC>agG	p.S206R	ZNF3_ENST00000299667.4_Missense_Mutation_p.S206R|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Missense_Mutation_p.S206R	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	206					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.S206R(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TAAAGCTCTTGCTACATTCAT	0.438																																						uc003usq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(616-618)AGC>AGG		zinc finger protein 3 isoform 2							82.0	89.0	87.0					7																	99669489		2176	4289	6465	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669489G>C	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.618C>G	7.37:g.99669489G>C	ENSP00000415358:p.Ser206Arg					ZNF3_uc003usp.2_Intron|ZNF3_uc003usr.2_Missense_Mutation_p.S206R|ZNF3_uc010lgj.2_Missense_Mutation_p.S170R|ZNF3_uc003uss.2_Missense_Mutation_p.S213R|ZNF3_uc003ust.3_Missense_Mutation_p.S206R	p.S206R	NM_032924	NP_116313	P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		6	925	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	206			C2H2-type 1.		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.618C>G	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685884	0.47991	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.07800	3.16;3.16;3.16	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.188636	0.38548	N	0.001656	T	0.11793	0.0287	N	0.21373	0.66	0.35460	D	0.796411	P;P	0.49696	0.927;0.881	P;P	0.54965	0.602;0.765	T	0.06770	-1.0808	10	0.62326	D	0.03	-12.3792	11.0623	0.47955	0.0:0.1881:0.8119:0.0	.	189;206	B3KRP4;P17036	.;ZNF3_HUMAN	R	206	ENSP00000415358:S206R;ENSP00000306372:S206R;ENSP00000299667:S206R	ENSP00000299667:S206R	S	-	3	2	ZNF3	99507425	0.625000	0.27111	1.000000	0.80357	0.996000	0.88848	-0.043000	0.12043	2.568000	0.86640	0.655000	0.94253	AGC		PASS	0.438	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		10	152	10	152	---	---	---	---
ZNF3	7551	broad.mit.edu	37	7	99669784	99669784	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr7:99669784G>T	ENST00000424697.1	-	6	629	c.323C>A	c.(322-324)tCa>tAa	p.S108*	ZNF3_ENST00000299667.4_Nonsense_Mutation_p.S108*|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Nonsense_Mutation_p.S108*	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	108	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.S108*(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			GACCCCATGTGATCTTGTGTC	0.413																																						uc003usq.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(322-324)TCA>TAA		zinc finger protein 3 isoform 2							112.0	100.0	104.0					7																	99669784		1839	4089	5928	SO:0001587	stop_gained	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669784G>T	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.323C>A	7.37:g.99669784G>T	ENSP00000415358:p.Ser108*					ZNF3_uc003usp.2_Intron|ZNF3_uc003usr.2_Nonsense_Mutation_p.S108*|ZNF3_uc010lgj.2_Nonsense_Mutation_p.S72*|ZNF3_uc003uss.2_Nonsense_Mutation_p.S115*|ZNF3_uc003ust.3_Nonsense_Mutation_p.S108*	p.S108*	NM_032924	NP_116313	P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		6	630	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	108			KRAB.		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Nonsense_Mutation	SNP	ENST00000424697.1	37	c.323C>A	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690341	0.88735	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667;ENST00000412947;ENST00000449785;ENST00000428683;ENST00000441298	.	.	.	5.01	4.13	0.48395	.	0.162882	0.29059	N	0.013274	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5951	11.0036	0.47620	0.0903:0.0:0.9097:0.0	.	.	.	.	X	108;108;108;72;108;108;72	.	ENSP00000299667:S108X	S	-	2	0	ZNF3	99507720	0.005000	0.15991	0.735000	0.30896	0.849000	0.48306	1.193000	0.32162	1.352000	0.45808	0.491000	0.48974	TCA		PASS	0.413	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		10	192	10	192	---	---	---	---
PUS7	54517	broad.mit.edu	37	7	105098242	105098242	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr7:105098242G>A	ENST00000356362.2	-	16	2195	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C	PUS7_ENST00000469408.1_Missense_Mutation_p.R661C	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	661					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.R661C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						ACTGCTCAGCGAAGCCAGGTT	0.448																																					Colon(138;2387 3051 17860)	uc003vcx.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1981-1983)CGC>TGC		pseudouridylate synthase 7 homolog							251.0	228.0	236.0					7																	105098242		2203	4300	6503	SO:0001583	missense	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105098242G>A	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1981C>T	7.37:g.105098242G>A	ENSP00000348722:p.Arg661Cys					PUS7_uc010lji.2_Missense_Mutation_p.R667C|PUS7_uc003vcy.2_Missense_Mutation_p.R661C|PUS7_uc003vcz.1_Missense_Mutation_p.R661C	p.R661C	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN			16	2200	-			661					Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	c.1981C>T	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463168	0.84425	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.52057	0.68;0.68	5.86	5.86	0.93980	.	0.155733	0.64402	D	0.000016	T	0.59390	0.2190	N	0.25647	0.755	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.61043	-0.7142	10	0.87932	D	0	.	19.5509	0.95319	0.0:0.0:1.0:0.0	.	661;661	B3KY42;Q96PZ0	.;PUS7_HUMAN	C	661	ENSP00000348722:R661C;ENSP00000417402:R661C	ENSP00000348722:R661C	R	-	1	0	PUS7	104885478	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.845000	0.69437	2.937000	0.99478	0.650000	0.86243	CGC		PASS	0.448	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		9	149	9	149	---	---	---	---
CPED1	79974	broad.mit.edu	37	7	120737851	120737851	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr7:120737851G>A	ENST00000310396.5	+	6	1182	c.715G>A	c.(715-717)Gtg>Atg	p.V239M	CPED1_ENST00000423795.1_Missense_Mutation_p.V19M|CPED1_ENST00000450913.2_Missense_Mutation_p.V239M	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	239						endoplasmic reticulum (GO:0005783)		p.V239M(1)									GAAGCCACGTGTGTGGAAACC	0.443																																						uc003vjq.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(715-717)GTG>ATG		hypothetical protein LOC79974 isoform 1							110.0	107.0	108.0					7																	120737851		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120737851G>A		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.715G>A	7.37:g.120737851G>A	ENSP00000309772:p.Val239Met					C7orf58_uc003vjr.1_Missense_Mutation_p.V239M|C7orf58_uc003vjs.3_Missense_Mutation_p.V239M|C7orf58_uc003vjt.3_Missense_Mutation_p.V19M|C7orf58_uc010lkk.1_Missense_Mutation_p.V19M	p.V239M	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			6	1162	+	all_neural(327;0.117)		239					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.715G>A	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	0.412	-0.912739	0.02415	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.45668	2.22;0.89;1.89;1.89;1.47	5.75	-1.05	0.10036	.	1.361560	0.04247	N	0.337921	T	0.16385	0.0394	N	0.01109	-1.01	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.17992	-1.0351	10	0.22706	T	0.39	-14.9121	9.2275	0.37416	0.4731:0.0:0.5269:0.0	.	19;239;239	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	M	239;239;239;19;19	ENSP00000309772:V239M;ENSP00000398082:V239M;ENSP00000406122:V239M;ENSP00000415573:V19M;ENSP00000391952:V19M	ENSP00000309772:V239M	V	+	1	0	C7orf58	120525087	0.000000	0.05858	0.000000	0.03702	0.139000	0.21198	-0.869000	0.04232	-0.130000	0.11599	-0.416000	0.06073	GTG		PASS	0.443	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		12	93	12	93	---	---	---	---
SLC13A1	6561	broad.mit.edu	37	7	122769455	122769455	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr7:122769455T>C	ENST00000194130.2	-	9	1052	c.1013A>G	c.(1012-1014)cAa>cGa	p.Q338R	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	338					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.Q338R(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)	CCCAAGCTTTTGGTATTCTTG	0.403																																						uc003vkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1012-1014)CAA>CGA		solute carrier family 13 (sodium/sulfate	Succinic acid(DB00139)						263.0	210.0	228.0					7																	122769455		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122769455T>C		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.1013A>G	7.37:g.122769455T>C	ENSP00000194130:p.Gln338Arg					SLC13A1_uc010lks.2_Missense_Mutation_p.Q214R	p.Q338R	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN			9	1038	-			338					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.1013A>G	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	T	1.623	-0.520893	0.04171	.	.	ENSG00000081800	ENST00000194130	T	0.02656	4.21	5.69	3.11	0.35812	.	0.693622	0.14970	N	0.287850	T	0.01661	0.0053	N	0.10707	0.03	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.48768	-0.9006	10	0.11182	T	0.66	-12.0128	8.8916	0.35437	0.0:0.1636:0.0:0.8364	.	338;338	A4D0X1;Q9BZW2	.;S13A1_HUMAN	R	338	ENSP00000194130:Q338R	ENSP00000194130:Q338R	Q	-	2	0	SLC13A1	122556691	0.988000	0.35896	0.879000	0.34478	0.780000	0.44128	1.373000	0.34272	0.866000	0.35629	0.379000	0.24179	CAA		PASS	0.403	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		15	46	15	46	---	---	---	---
SPAM1	6677	broad.mit.edu	37	7	123594320	123594320	+	Silent	SNP	C	C	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr7:123594320C>G	ENST00000439500.1	+	4	1309	c.696C>G	c.(694-696)ccC>ccG	p.P232P	SPAM1_ENST00000340011.5_Silent_p.P232P|SPAM1_ENST00000460182.1_Silent_p.P232P|SPAM1_ENST00000402183.2_Silent_p.P232P|SPAM1_ENST00000223028.7_Silent_p.P232P	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	232					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.P232P(4)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATAAGAAACCCGGTTACAATG	0.368																																						uc003vld.2																			4	Substitution - coding silent(4)		lung(4)	ovary(3)|kidney(1)	4						c.(694-696)CCC>CCG		sperm adhesion molecule 1 isoform 2	Hyaluronidase(DB00070)						89.0	92.0	91.0					7																	123594320		2203	4300	6503	SO:0001819	synonymous_variant	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594320C>G	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.696C>G	7.37:g.123594320C>G						SPAM1_uc003vle.2_Silent_p.P232P|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Silent_p.P232P|SPAM1_uc010lku.2_Silent_p.P232P	p.P232P	NM_153189	NP_694859	P38567	HYALP_HUMAN			4	1098	+			232					Q8TC30	Silent	SNP	ENST00000439500.1	37	c.696C>G	CCDS5791.1																																																																																				PASS	0.368	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			4	109	4	109	---	---	---	---
ZNF800	168850	broad.mit.edu	37	7	127014786	127014786	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr7:127014786C>A	ENST00000393313.1	-	5	1195	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	ZNF800_ENST00000265827.3_Nonsense_Mutation_p.E202*|ZNF800_ENST00000393312.1_Nonsense_Mutation_p.E202*|ZNF800_ENST00000485577.1_5'Flank			Q2TB10	ZN800_HUMAN	zinc finger protein 800	202					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.E202*(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GGTGCAACTTCATCTGTAACA	0.438																																						uc003vlx.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(604-606)GAA>TAA		zinc finger protein 800							121.0	119.0	120.0					7																	127014786		2203	4300	6503	SO:0001587	stop_gained	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127014786C>A	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.604G>T	7.37:g.127014786C>A	ENSP00000376989:p.Glu202*					ZNF800_uc003vlw.1_Nonsense_Mutation_p.E105*|ZNF800_uc003vly.1_Nonsense_Mutation_p.E202*|ZNF800_uc010lla.2_Nonsense_Mutation_p.E202*	p.E202*	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN			5	867	-			202					Q9HBN0	Nonsense_Mutation	SNP	ENST00000393313.1	37	c.604G>T	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482588	0.63962	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312;ENST00000434602	.	.	.	5.68	5.68	0.88126	.	0.328555	0.36134	N	0.002771	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-0.0133	8.3263	0.32158	0.0:0.8338:0.0:0.1662	.	.	.	.	X	202	.	ENSP00000265827:E202X	E	-	1	0	ZNF800	126802022	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.438000	0.44837	2.685000	0.91497	0.650000	0.86243	GAA		PASS	0.438	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		17	120	17	120	---	---	---	---
OR9A2	135924	broad.mit.edu	37	7	142723348	142723348	+	Missense_Mutation	SNP	T	T	A	rs574290249		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr7:142723348T>A	ENST00000350513.2	-	1	934	c.872A>T	c.(871-873)gAc>gTc	p.D291V		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D291V(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TTTGACTTTGTCATTCCGAAG	0.458																																						uc003wcc.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(871-873)GAC>GTC		olfactory receptor, family 9, subfamily A,							87.0	93.0	91.0					7																	142723348		2203	4300	6503	SO:0001583	missense	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142723348T>A		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.872A>T	7.37:g.142723348T>A	ENSP00000316518:p.Asp291Val						p.D291V	NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN			1	872	-	Melanoma(164;0.059)		291			Cytoplasmic (Potential).		B9EH51|Q6IF71|Q8NGD9	Missense_Mutation	SNP	ENST00000350513.2	37	c.872A>T	CCDS34767.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701540	0.48307	.	.	ENSG00000179468	ENST00000350513	T	0.37584	1.19	4.59	4.59	0.56863	.	0.000000	0.41823	U	0.000811	T	0.41419	0.1158	N	0.24115	0.695	0.51767	D	0.999936	D	0.65815	0.995	P	0.61800	0.894	T	0.40553	-0.9557	10	0.87932	D	0	-14.6695	12.2123	0.54386	0.0:0.0:0.0:1.0	.	291	Q8NGT5	OR9A2_HUMAN	V	291	ENSP00000316518:D291V	ENSP00000316518:D291V	D	-	2	0	OR9A2	142433470	0.952000	0.32445	1.000000	0.80357	0.368000	0.29767	2.454000	0.44979	2.045000	0.60652	0.459000	0.35465	GAC		PASS	0.458	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			21	55	21	55	---	---	---	---
SGCZ	137868	broad.mit.edu	37	8	14095170	14095170	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr8:14095170G>T	ENST00000382080.1	-	4	1070	c.355C>A	c.(355-357)Cag>Aag	p.Q119K	SGCZ_ENST00000421524.2_Missense_Mutation_p.Q72K	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	106					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.Q119K(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CTGTCAGACTGTAAGACCAGC	0.373																																						uc003wwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(355-357)CAG>AAG		sarcoglycan zeta							285.0	271.0	276.0					8																	14095170		2203	4300	6503	SO:0001583	missense	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:14095170G>T	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.355C>A	8.37:g.14095170G>T	ENSP00000371512:p.Gln119Lys					SGCZ_uc010lss.2_Missense_Mutation_p.Q72K	p.Q119K	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	4	1015	-			106			Extracellular (Potential).		Q6REU0	Missense_Mutation	SNP	ENST00000382080.1	37	c.355C>A	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	g	15.83	2.950086	0.53186	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	D;D	0.94497	-3.44;-3.44	5.39	5.39	0.77823	.	0.176668	0.50627	D	0.000106	D	0.93854	0.8034	M	0.68952	2.095	0.47407	D	0.999413	B;B	0.23735	0.09;0.073	B;B	0.31442	0.13;0.055	D	0.90858	0.4736	10	0.22109	T	0.4	.	18.5837	0.91181	0.0:0.0:1.0:0.0	.	72;119	Q08AT0;Q96LD1-2	.;.	K	119;72	ENSP00000371512:Q119K;ENSP00000405224:Q72K	ENSP00000371512:Q119K	Q	-	1	0	SGCZ	14139541	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.746000	0.91604	2.708000	0.92522	0.585000	0.79938	CAG		PASS	0.373	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		42	118	42	118	---	---	---	---
SPIDR	23514	broad.mit.edu	37	8	48309125	48309125	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr8:48309125C>G	ENST00000297423.4	+	6	1099	c.715C>G	c.(715-717)Cag>Gag	p.Q239E	SPIDR_ENST00000518074.1_Missense_Mutation_p.Q179E|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.Q169E	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	239	Necessary for interaction with RAD51.				cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)		p.Q239E(1)									GCATACACCTCAGAAACCCAC	0.368																																						uc003xqd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(715-717)CAG>GAG		hypothetical protein LOC23514							153.0	151.0	152.0					8																	48309125		1843	4099	5942	SO:0001583	missense	23514							g.chr8:48309125C>G	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.715C>G	8.37:g.48309125C>G	ENSP00000297423:p.Gln239Glu					KIAA0146_uc011lcz.1_Intron|KIAA0146_uc011lda.1_Intron|KIAA0146_uc011ldb.1_Missense_Mutation_p.Q239E|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Missense_Mutation_p.Q169E|KIAA0146_uc011ldd.1_Missense_Mutation_p.Q179E|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Intron	p.Q239E	NM_001080394	NP_001073863	Q14159	K0146_HUMAN			6	724	+		Lung NSC(58;0.175)	239					B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	c.715C>G	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	C	4.602	0.111779	0.08831	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342	.	.	.	5.69	3.71	0.42584	.	0.524608	0.19191	N	0.120434	T	0.32912	0.0845	L	0.42245	1.32	0.31368	N	0.680548	P;B;P;B	0.37500	0.597;0.426;0.597;0.426	B;B;B;B	0.35278	0.199;0.199;0.199;0.199	T	0.36648	-0.9739	9	0.33141	T	0.24	.	10.8263	0.46633	0.4798:0.5202:0.0:0.0	.	179;169;239;239	B4E0Y6;B4DFV2;B4DEV5;Q14159	.;.;.;K0146_HUMAN	E	239;179;169	.	ENSP00000297423:Q239E	Q	+	1	0	KIAA0146	48471678	0.977000	0.34250	0.991000	0.47740	0.052000	0.14988	0.869000	0.27996	1.391000	0.46566	0.650000	0.86243	CAG		PASS	0.368	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		5	115	5	115	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52258417	52258417	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr8:52258417A>G	ENST00000356297.4	-	20	4092	c.3992T>C	c.(3991-3993)aTg>aCg	p.M1331T	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1331					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.M1331T(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)				ACTTAACTCCATATCCTTATC	0.373																																						uc003xqu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(3991-3993)ATG>ACG		peroxidasin homolog-like precursor							128.0	120.0	122.0					8																	52258417		1900	4116	6016	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52258417A>G		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.3992T>C	8.37:g.52258417A>G	ENSP00000348645:p.Met1331Thr					PXDNL_uc003xqt.3_Intron	p.M1331T	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			20	4093	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1331					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3992T>C	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.008|0.008	-1.910703|-1.910703	0.00508|0.00508	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297|ENST00000522933	T|.	0.63255|.	-0.03|.	4.53|4.53	-9.05|-9.05	0.00730|0.00730	.|.	.|.	.|.	.|.	.|.	T|T	0.07188|0.07188	0.0182|0.0182	N|N	0.01874|0.01874	-0.695|-0.695	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.15009|0.15009	-1.0452|-1.0452	9|5	0.21540|.	T|.	0.41|.	.|.	2.0338|2.0338	0.03535|0.03535	0.1221:0.176:0.3205:0.3815|0.1221:0.176:0.3205:0.3815	.|.	1331|.	A1KZ92|.	PXDNL_HUMAN|.	T|R	1331|405	ENSP00000348645:M1331T|.	ENSP00000348645:M1331T|.	M|W	-|-	2|1	0|0	PXDNL|PXDNL	52420970|52420970	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.333000|-0.333000	0.07894|0.07894	-3.710000|-3.710000	0.00117|0.00117	-1.151000|-1.151000	0.01829|0.01829	ATG|TGG		PASS	0.373	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		7	13	7	13	---	---	---	---
OPRK1	4986	broad.mit.edu	37	8	54142277	54142277	+	Silent	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr8:54142277G>A	ENST00000265572.3	-	4	1020	c.723C>T	c.(721-723)atC>atT	p.I241I	OPRK1_ENST00000520287.1_Silent_p.I241I|OPRK1_ENST00000524278.1_Silent_p.I152I|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	241					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)	p.I241I(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AGACGATGATGATGAGGACAG	0.532																																						uc003xrh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(721-723)ATC>ATT		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						91.0	96.0	95.0					8																	54142277		2203	4300	6503	SO:0001819	synonymous_variant	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54142277G>A		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.723C>T	8.37:g.54142277G>A						OPRK1_uc003xri.1_Silent_p.I241I|OPRK1_uc010lyc.1_Silent_p.I152I	p.I241I	NM_000912	NP_000903	P41145	OPRK_HUMAN			3	1098	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	241			Helical; Name=5; (Potential).		E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	c.723C>T	CCDS6152.1																																																																																				PASS	0.532	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			8	35	8	35	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72958748	72958748	+	Splice_Site	SNP	G	G	A	rs541532801		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr8:72958748G>A	ENST00000262209.4	-	17	2268	c.2061C>T	c.(2059-2061)aaC>aaT	p.N687N	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	687					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.N687N(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGAACTTACGTTGAGGGCTG	0.294													A|||	1	0.000199681	0.0008	0.0	5008	,	,		14285	0.0		0.0	False		,,,				2504	0.0					uc003xza.2																			2	Substitution - coding silent(2)		lung(1)|breast(1)	ovary(4)|lung(1)|kidney(1)	6						c.(2059-2061)AAC>AAT		ankyrin-like protein 1	Menthol(DB00825)						167.0	178.0	174.0					8																	72958748		2203	4299	6502	SO:0001630	splice_region_variant	8989					integral to plasma membrane		g.chr8:72958748G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2061+1C>T	8.37:g.72958748G>A						uc011lff.1_Intron|uc003xyy.2_Intron	p.N687N	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		17	2236	-			687			Cytoplasmic (Potential).		A6NIN6	Silent	SNP	ENST00000262209.4	37	c.2061C>T	CCDS34908.1																																																																																				PASS	0.294	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	Silent	13	56	13	56	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72977745	72977745	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr8:72977745C>G	ENST00000262209.4	-	4	700	c.493G>C	c.(493-495)Gga>Cga	p.G165R		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	165					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.G165R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCTGTGTTTCCATTTTCTCCT	0.338																																						uc003xza.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(493-495)GGA>CGA		ankyrin-like protein 1	Menthol(DB00825)						124.0	107.0	113.0					8																	72977745		2201	4299	6500	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72977745C>G	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.493G>C	8.37:g.72977745C>G	ENSP00000262209:p.Gly165Arg						p.G165R	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		4	668	-			165			Cytoplasmic (Potential).|ANK 4.		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.493G>C	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863055	0.71949	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;D	0.86297	0.21;-2.1	5.39	4.5	0.54988	Ankyrin repeat-containing domain (3);	0.157254	0.64402	D	0.000019	D	0.89319	0.6681	M	0.72118	2.19	0.80722	D	1	P	0.49696	0.927	P	0.50270	0.636	D	0.90384	0.4390	10	0.72032	D	0.01	-19.2535	13.8761	0.63653	0.0:0.9261:0.0:0.0739	.	165	O75762	TRPA1_HUMAN	R	17;165	ENSP00000428151:G17R;ENSP00000262209:G165R	ENSP00000262209:G165R	G	-	1	0	TRPA1	73140299	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.049000	0.64244	2.689000	0.91719	0.650000	0.86243	GGA		PASS	0.338	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		6	23	6	23	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89053787	89053787	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr8:89053787A>G	ENST00000286614.6	-	10	2007	c.1726T>C	c.(1726-1728)Tgc>Cgc	p.C576R		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	576					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C576R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	ACAAGGAGGCATAAGGCCAAG	0.473																																						uc003yeb.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(1726-1728)TGC>CGC		matrix metalloproteinase 16 isoform 1							253.0	203.0	220.0					8																	89053787		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89053787A>G	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1726T>C	8.37:g.89053787A>G	ENSP00000286614:p.Cys576Arg						p.C576R	NM_005941	NP_005932	P51512	MMP16_HUMAN			10	2008	-			576			Helical; (Potential).		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.1726T>C	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064752	0.76187	.	.	ENSG00000156103	ENST00000286614	T	0.57595	0.39	5.62	5.62	0.85841	Peptidase M10A, matrix metallopeptidase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73353	0.3576	M	0.79011	2.435	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.77384	-0.2608	10	0.87932	D	0	.	15.8189	0.78626	1.0:0.0:0.0:0.0	.	576	P51512	MMP16_HUMAN	R	576	ENSP00000286614:C576R	ENSP00000286614:C576R	C	-	1	0	MMP16	89122903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.335000	0.96500	2.131000	0.65755	0.482000	0.46254	TGC		PASS	0.473	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		16	70	16	70	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	105263969	105263969	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr8:105263969C>T	ENST00000436393.2	+	28	4266	c.4025C>T	c.(4024-4026)cCa>cTa	p.P1342L	RIMS2_ENST00000339750.2_Missense_Mutation_p.P260L|RIMS2_ENST00000406091.3_Missense_Mutation_p.P1324L|RIMS2_ENST00000507740.1_Missense_Mutation_p.P1138L|RIMS2_ENST00000262231.10_Missense_Mutation_p.P1163L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1386	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.P1138L(2)|p.P1324L(1)|p.P1342L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTAGTAGATCCAACCTTGGCC	0.433										HNSCC(12;0.0054)																												uc003yls.2																			4	Substitution - Missense(4)		lung(4)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(4024-4026)CCA>CTA		regulating synaptic membrane exocytosis 2							158.0	158.0	158.0					8																	105263969		1871	4091	5962	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105263969C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.4025C>T	8.37:g.105263969C>T	ENSP00000390665:p.Pro1342Leu	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.P1324L|RIMS2_uc003ylq.2_Missense_Mutation_p.P1138L|RIMS2_uc003ylr.2_Missense_Mutation_p.P1163L	p.P1342L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		28	4266	+			1386					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.4025C>T		.	.	.	.	.	.	.	.	.	.	C	20.4	3.981716	0.74474	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000436393;ENST00000339750	T;T;T;T;T	0.22539	2.42;2.13;2.14;2.18;1.95	5.64	5.64	0.86602	.	.	.	.	.	T	0.50343	0.1610	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.50882	-0.8775	9	0.87932	D	0	.	19.6939	0.96016	0.0:1.0:0.0:0.0	.	1342;1163;1138;1324	D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	.;.;.;.	L	1361;1324;1386;1163;1138;1342;260	ENSP00000384892:P1324L;ENSP00000262231:P1163L;ENSP00000423559:P1138L;ENSP00000390665:P1342L;ENSP00000342051:P260L	ENSP00000262231:P1163L	P	+	2	0	RIMS2	105333145	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.809000	0.86057	2.660000	0.90430	0.655000	0.94253	CCA		PASS	0.433	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		28	102	28	102	---	---	---	---
TRHR	7201	broad.mit.edu	37	8	110100167	110100167	+	Silent	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr8:110100167C>A	ENST00000518632.1	+	2	777	c.426C>A	c.(424-426)gcC>gcA	p.A142A	TRHR_ENST00000311762.2_Silent_p.A142A			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	142					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)	p.A142A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTTCCAGAGCCAAAAAGATTA	0.403																																						uc003ymz.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|lung(1)	3						c.(424-426)GCC>GCA		thyrotropin-releasing hormone receptor							123.0	103.0	110.0					8																	110100167		2203	4300	6503	SO:0001819	synonymous_variant	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110100167C>A		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.426C>A	8.37:g.110100167C>A							p.A142A	NM_003301	NP_003292	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		1	442	+			142			Cytoplasmic (Potential).		Q2M339	Silent	SNP	ENST00000518632.1	37	c.426C>A	CCDS6311.1																																																																																				PASS	0.403	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			12	40	12	40	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113418827	113418828	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr8:113418827_113418828CC>AA	ENST00000297405.5	-	35	5978_5979	c.5734_5735GG>TT	c.(5734-5736)GGa>TTa	p.G1912L	CSMD3_ENST00000343508.3_Missense_Mutation_p.G1872L|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1842L|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1808L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1912	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1912L(1)|p.G1912*(1)|p.G1872V(1)|p.G1912V(1)|p.G1872*(1)|p.G1872L(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						TGCTATGGATCCATGGAGAATA	0.396										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			6	Substitution - Missense(4)|Substitution - Nonsense(2)		lung(6)	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.(5734-5736)GGA>GTA|c.(5734-5736)GGA>TGA		CUB and Sushi multiple domains 3 isoform 1																																				SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113418827C>A|g.chr8:113418828C>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.5734_5735delinsAA	8.37:g.113418827_113418828delinsAA	ENSP00000297405:p.Gly1912Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G1114V|CSMD3_uc003ynt.2_Missense_Mutation_p.G1872V|CSMD3_uc011lhx.1_Missense_Mutation_p.G1808V|CSMD3_uc003yns.2_Nonsense_Mutation_p.G1114*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.G1872*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.G1808*	p.G1912V|p.G1912*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			35	5894|5893	-			1912			Sushi 10.|Extracellular (Potential).		Q96PZ3	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000297405.5	37	c.5735G>T|c.5734G>T	CCDS6315.1																																																																																				PASS	0.396	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		25|26	32|34	25	32	---	---	---	---
SLC30A8	169026	broad.mit.edu	37	8	118170057	118170057	+	Silent	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr8:118170057C>A	ENST00000456015.2	+	4	546	c.546C>A	c.(544-546)tcC>tcA	p.S182S	SLC30A8_ENST00000519688.1_Silent_p.S133S|SLC30A8_ENST00000521243.1_Silent_p.S133S|SLC30A8_ENST00000427715.2_Silent_p.S133S	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	182					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.S182S(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCATCGTTTCCAGCTGCGCAG	0.537																																					Ovarian(162;1202 1922 6011 16223 52092)	uc003yoh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(544-546)TCC>TCA		solute carrier family 30 member 8							208.0	174.0	185.0					8																	118170057		2203	4300	6503	SO:0001819	synonymous_variant	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118170057C>A		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.546C>A	8.37:g.118170057C>A						SLC30A8_uc010mcz.2_Silent_p.S133S|SLC30A8_uc011lia.1_Silent_p.S133S|SLC30A8_uc003yog.2_Silent_p.S133S	p.S182S	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		4	776	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		182			Helical; (Potential).		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Silent	SNP	ENST00000456015.2	37	c.546C>A	CCDS6322.1																																																																																				PASS	0.537	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		13	52	13	52	---	---	---	---
EXT1	2131	broad.mit.edu	37	8	119122430	119122430	+	Missense_Mutation	SNP	C	C	G	rs551552671		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr8:119122430C>G	ENST00000378204.2	-	1	1662	c.856G>C	c.(856-858)Gtc>Ctc	p.V286L		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	286					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)	p.V286L(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CCGTTATGGACGTGATATAAG	0.512			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													uc003yok.1			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	Mis|N|F|S	multiple exostoses type 1 gene			M		exostoses|osteosarcoma			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(856-858)GTC>CTC		exostosin 1							221.0	184.0	197.0					8																	119122430		2203	4300	6503	SO:0001583	missense	2131	Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:119122430C>G	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.856G>C	8.37:g.119122430C>G	ENSP00000367446:p.Val286Leu						p.V286L	NM_000127	NP_000118	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		1	1629	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		286			Lumenal (Potential).		B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	c.856G>C	CCDS6324.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.722|1.722	-0.496391|-0.496391	0.04291|0.04291	.|.	.|.	ENSG00000182197|ENSG00000182197	ENST00000436216|ENST00000378204	.|D	.|0.97575	.|-4.44	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	D|D	0.85932|0.85932	0.5812|0.5812	N|N	0.00289|0.00289	-1.7|-1.7	0.58432|0.58432	D|D	0.999999|0.999999	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	D|D	0.84515|0.84515	0.0624|0.0624	5|10	.|0.02654	.|T	.|1	-5.0869|-5.0869	19.2346|19.2346	0.93853|0.93853	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|286	.|Q16394	.|EXT1_HUMAN	P|L	75|286	.|ENSP00000367446:V286L	.|ENSP00000367446:V286L	R|V	-|-	2|1	0|0	EXT1|EXT1	119191611|119191611	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.915000|5.915000	0.69973|0.69973	2.536000|2.536000	0.85505|0.85505	0.462000|0.462000	0.41574|0.41574	CGT|GTC		PASS	0.512	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		13	56	13	56	---	---	---	---
COLEC10	10584	broad.mit.edu	37	8	120116039	120116039	+	Splice_Site	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr8:120116039G>A	ENST00000332843.2	+	5	388	c.347G>A	c.(346-348)gGt>gAt	p.G116D	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	116						collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.G116D(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CATTTAAAAGGTACTGTCTGT	0.378																																						uc003yoo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(346-348)GGT>GAT		collectin sub-family member 10 precursor							165.0	166.0	166.0					8																	120116039		2203	4300	6503	SO:0001630	splice_region_variant	10584					collagen|cytoplasm	mannose binding	g.chr8:120116039G>A	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.347-1G>A	8.37:g.120116039G>A							p.G116D	NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		5	444	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		116					Q3SYH6|Q6UW19	Missense_Mutation	SNP	ENST00000332843.2	37	c.347G>A	CCDS6327.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263036	0.80358	.	.	ENSG00000184374	ENST00000332843	D	0.93811	-3.29	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.96744	0.8937	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96593	0.9439	9	.	.	.	.	18.6508	0.91430	0.0:0.0:1.0:0.0	.	116	Q9Y6Z7	COL10_HUMAN	D	116	ENSP00000332723:G116D	.	G	+	2	0	COLEC10	120185220	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	9.069000	0.93967	2.490000	0.84030	0.563000	0.77884	GGT		PASS	0.378	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1		Missense_Mutation	4	74	4	74	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131797705	131797705	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr8:131797705C>A	ENST00000286355.5	-	16	5169	c.3077G>T	c.(3076-3078)cGa>cTa	p.R1026L	ADCY8_ENST00000377928.3_Missense_Mutation_p.R895L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1026					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.R1026L(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)			GTCTTGAAATCGGTCTTCACC	0.507										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3076-3078)CGA>CTA		adenylate cyclase 8							91.0	84.0	86.0					8																	131797705		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.chr8:131797705C>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.3077G>T	8.37:g.131797705C>A	ENSP00000286355:p.Arg1026Leu	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.R895L	p.R1026L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		16	3333	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1026			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.3077G>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483779	0.84854	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.81163	-1.46;-1.46	5.07	5.07	0.68467	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.116455	0.53938	D	0.000041	D	0.88332	0.6408	M	0.67700	2.07	0.31219	N	0.697653	D;P	0.65815	0.995;0.897	D;P	0.68943	0.961;0.804	D	0.87601	0.2497	10	0.52906	T	0.07	.	17.8033	0.88595	0.0:1.0:0.0:0.0	.	895;1026	E7EVL1;P40145	.;ADCY8_HUMAN	L	1026;895	ENSP00000286355:R1026L;ENSP00000367161:R895L	ENSP00000286355:R1026L	R	-	2	0	ADCY8	131866887	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	4.866000	0.63005	2.535000	0.85469	0.591000	0.81541	CGA		PASS	0.507	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			5	40	5	40	---	---	---	---
AQP7	364	broad.mit.edu	37	9	33385656	33385656	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr9:33385656T>A	ENST00000537089.1	-	6	776	c.458A>T	c.(457-459)cAg>cTg	p.Q153L	AQP7_ENST00000541274.1_Silent_p.T113T|AQP7_ENST00000377425.4_Missense_Mutation_p.Q188L|AQP7_ENST00000539936.1_Missense_Mutation_p.Q245L			O14520	AQP7_HUMAN	aquaporin 7	245					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)	p.Q245L(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCTGAAGACCTGTTTGCCCCA	0.597																																						uc003zst.2																			1	Substitution - Missense(1)		lung(1)		0						c.(733-735)CAG>CTG		aquaporin 7							64.0	72.0	69.0					9																	33385656		2203	4300	6503	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385656T>A	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.458A>T	9.37:g.33385656T>A	ENSP00000441619:p.Gln153Leu					SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Missense_Mutation_p.Q188L|AQP7_uc010mjs.2_Missense_Mutation_p.Q153L|AQP7_uc010mjt.2_Missense_Mutation_p.Q153L|AQP7_uc011lnx.1_Missense_Mutation_p.Q245L|AQP7_uc011lny.1_Missense_Mutation_p.Q244L|AQP7_uc003zss.3_Missense_Mutation_p.Q153L|AQP7_uc011lnz.1_Missense_Mutation_p.Q153L|AQP7_uc011loa.1_Silent_p.T113T	p.Q245L	NM_001170	NP_001161	O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	7	906	-			245			Extracellular (Potential).		Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37	c.734A>T		.	.	.	.	.	.	.	.	.	.	t	10.44	1.350646	0.24512	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	T;T;T;T;T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88	5.04	5.04	0.67666	Aquaporin-like (2);	0.122950	0.64402	D	0.000014	T	0.10165	0.0249	.	.	.	0.26175	N	0.9798	B;B;B;B	0.12630	0.0;0.0;0.006;0.001	B;B;B;B	0.15870	0.003;0.005;0.014;0.005	T	0.14282	-1.0478	9	0.62326	D	0.03	-0.6143	12.7904	0.57530	0.0:0.0:0.0:1.0	.	244;245;188;245	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	L	153;244;113;245;188;153;244;245;181	ENSP00000441619:Q153L;ENSP00000368821:Q244L;ENSP00000412868:Q113L;ENSP00000297988:Q245L;ENSP00000396111:Q188L;ENSP00000410138:Q153L;ENSP00000368820:Q244L;ENSP00000439534:Q245L;ENSP00000368817:Q181L	ENSP00000297988:Q245L	Q	-	2	0	AQP7	33375656	0.883000	0.30277	0.564000	0.28396	0.088000	0.18126	5.757000	0.68766	2.118000	0.64928	0.449000	0.29647	CAG		PASS	0.597	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		3	62	3	62	---	---	---	---
CLTA	1211	broad.mit.edu	37	9	36211679	36211679	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr9:36211679G>A	ENST00000242285.6	+	7	775	c.655G>A	c.(655-657)Gac>Aac	p.D219N	CLTA_ENST00000345519.5_Missense_Mutation_p.D189N|CLTA_ENST00000470744.1_Missense_Mutation_p.D201N|CLTA_ENST00000396603.2_Missense_Mutation_p.D207N|CLTA_ENST00000540080.1_Missense_Mutation_p.D137N|CLTA_ENST00000538225.1_Missense_Mutation_p.D201N|CLTA_ENST00000466396.1_Missense_Mutation_p.D167N|CLTA_ENST00000433436.2_Missense_Mutation_p.D219N			P09496	CLCA_HUMAN	clathrin, light chain A	219					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	clathrin heavy chain binding (GO:0032050)|peptide binding (GO:0042277)|structural molecule activity (GO:0005198)	p.D219N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			CCGGCTGTGTGACTTTAACCC	0.557																																						uc003zzc.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(655-657)GAC>AAC		clathrin, light polypeptide A isoform b							98.0	90.0	93.0					9																	36211679		2203	4300	6503	SO:0001583	missense	1211				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity	g.chr9:36211679G>A		CCDS6600.1, CCDS6601.1, CCDS43802.1, CCDS55306.1, CCDS55307.1	9p13.3	2010-05-11	2010-05-11		ENSG00000122705	ENSG00000122705			2090	protein-coding gene	gene with protein product		118960	"""clathrin, light polypeptide (Lca)"""			7713494	Standard	NM_007096		Approved	Lca	uc003zzc.3	P09496	OTTHUMG00000019896	ENST00000242285.6:c.655G>A	9.37:g.36211679G>A	ENSP00000242285:p.Asp219Asn					CLTA_uc003zzd.2_Missense_Mutation_p.D207N|CLTA_uc003zze.2_Missense_Mutation_p.D189N|CLTA_uc011lpk.1_Missense_Mutation_p.D201N|CLTA_uc003zzf.1_Intron	p.D219N	NM_007096	NP_009027	P09496	CLCA_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		7	817	+			219					A8K4W3|B4DIN1|F5H6N3|Q2XPN5|Q53XZ1	Missense_Mutation	SNP	ENST00000242285.6	37	c.655G>A	CCDS6601.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611033	0.87258	.	.	ENSG00000122705	ENST00000433436;ENST00000538225;ENST00000540080;ENST00000345519;ENST00000470744;ENST00000242285;ENST00000466396;ENST00000396603	.	.	.	5.79	5.79	0.91817	.	0.041576	0.85682	D	0.000000	D	0.83801	0.5333	M	0.85710	2.77	0.80722	D	1	D;D;D;D	0.89917	0.999;0.997;1.0;1.0	D;D;D;D	0.85130	0.971;0.95;0.996;0.997	D	0.84275	0.0491	9	0.48119	T	0.1	-17.3113	17.5355	0.87829	0.0:0.0:1.0:0.0	.	201;189;207;219	B4DIN1;P09496-2;P09496-3;P09496	.;.;.;CLCA_HUMAN	N	219;201;137;189;201;219;167;207	.	ENSP00000242285:D219N	D	+	1	0	CLTA	36201679	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.736000	0.93811	0.655000	0.94253	GAC		PASS	0.557	CLTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052405.1	NM_007096		4	49	4	49	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79996916	79996916	+	Silent	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr9:79996916G>A	ENST00000360280.3	+	68	9362	c.9102G>A	c.(9100-9102)gaG>gaA	p.E3034E	VPS13A_ENST00000357409.5_Silent_p.E3034E|VPS13A_ENST00000376634.4_Silent_p.E3034E|VPS13A_ENST00000376636.3_Silent_p.E2995E	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3034					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.E3034E(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						CTGAAGTGGAGAGTCTGCGAC	0.343																																						uc004akr.2																			3	Substitution - coding silent(3)		lung(3)	pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(9100-9102)GAG>GAA		vacuolar protein sorting 13A isoform A							50.0	50.0	50.0					9																	79996916		2203	4300	6503	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79996916G>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.9102G>A	9.37:g.79996916G>A						VPS13A_uc004akp.3_Silent_p.E3034E|VPS13A_uc004akq.3_Silent_p.E3034E|VPS13A_uc004aks.2_Silent_p.E2995E	p.E3034E	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			68	9362	+			3034					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.9102G>A	CCDS6655.1																																																																																				PASS	0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		7	34	7	34	---	---	---	---
SLC46A2	57864	broad.mit.edu	37	9	115652604	115652604	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr9:115652604G>T	ENST00000374228.4	-	1	589	c.358C>A	c.(358-360)Cgc>Agc	p.R120S		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	120					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.R120S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						AGCCCGAGGCGGGAGAGCAGG	0.672																																						uc004bgk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(358-360)CGC>AGC		solute carrier family 46, member 2							49.0	53.0	52.0					9																	115652604		2201	4297	6498	SO:0001583	missense	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115652604G>T	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.358C>A	9.37:g.115652604G>T	ENSP00000363345:p.Arg120Ser						p.R120S	NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN			1	590	-			120			Helical; Name=3; (Potential).		B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	ENST00000374228.4	37	c.358C>A	CCDS6786.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.155873	0.38021	.	.	ENSG00000119457	ENST00000374228	T	0.78707	-1.2	5.59	3.76	0.43208	Major facilitator superfamily domain, general substrate transporter (1);	0.091635	0.64402	D	0.000001	T	0.66076	0.2753	L	0.47716	1.5	0.47407	D	0.999415	B	0.28880	0.226	B	0.34489	0.184	T	0.53906	-0.8372	10	0.06625	T	0.88	-8.0977	6.2332	0.20747	0.1441:0.0:0.6169:0.239	.	120	Q9BY10	TSCOT_HUMAN	S	120	ENSP00000363345:R120S	ENSP00000363345:R120S	R	-	1	0	SLC46A2	114692425	1.000000	0.71417	0.964000	0.40570	0.998000	0.95712	2.787000	0.47798	0.732000	0.32470	0.650000	0.86243	CGC		PASS	0.672	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		10	34	10	34	---	---	---	---
LAMC3	10319	broad.mit.edu	37	9	133942459	133942459	+	Silent	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr9:133942459C>T	ENST00000361069.4	+	14	2593	c.2460C>T	c.(2458-2460)gcC>gcT	p.A820A	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	820	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.A820A(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACCCCAATGCCGTGGGCAACT	0.637																																						uc004caa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2458-2460)GCC>GCT		laminin, gamma 3 precursor							72.0	61.0	65.0					9																	133942459		2203	4300	6503	SO:0001819	synonymous_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133942459C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2460C>T	9.37:g.133942459C>T							p.A820A	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	14	2558	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	820			Laminin EGF-like 8.		B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	c.2460C>T	CCDS6938.1																																																																																				PASS	0.637	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		3	35	3	35	---	---	---	---
NUP214	8021	broad.mit.edu	37	9	134074366	134074366	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr9:134074366G>A	ENST00000359428.5	+	29	5629	c.5485G>A	c.(5485-5487)Gca>Aca	p.A1829T	NUP214_ENST00000451030.1_Missense_Mutation_p.A1830T|NUP214_ENST00000411637.2_Missense_Mutation_p.A1819T|NUP214_ENST00000483497.2_Missense_Mutation_p.A655T			P35658	NU214_HUMAN	nucleoporin 214kDa	1829	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|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)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.A1829T(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CACCACAACAGCAGCAACCTC	0.502			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.2				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		1	Substitution - Missense(1)		lung(1)	breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(5485-5487)GCA>ACA		nucleoporin 214kDa							51.0	57.0	55.0					9																	134074366		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134074366G>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.5485G>A	9.37:g.134074366G>A	ENSP00000352400:p.Ala1829Thr					NUP214_uc004cah.2_Missense_Mutation_p.A1819T|NUP214_uc004cai.2_Missense_Mutation_p.A1259T|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.A655T|NUP214_uc011mcf.1_Missense_Mutation_p.A606T|NUP214_uc010mzh.1_Missense_Mutation_p.A343T|NUP214_uc010mzi.1_Missense_Mutation_p.A343T	p.A1829T	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	29	5596	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1829			Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.5485G>A	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	8.923	0.961473	0.18583	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497	T;T;T;T	0.43294	1.55;1.55;1.55;0.95	6.07	5.15	0.70609	.	0.184208	0.26612	N	0.023402	T	0.19485	0.0468	N	0.08118	0	0.36526	D	0.870442	P;P;P;P;P	0.44946	0.734;0.846;0.846;0.565;0.565	B;B;B;B;B	0.42827	0.224;0.3;0.378;0.399;0.399	T	0.18272	-1.0342	10	0.07482	T	0.82	-20.4405	6.2256	0.20706	0.1404:0.0:0.6995:0.1601	.	655;1258;1423;1819;1829	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	T	1829;1819;1830;1808;1423;1258;655	ENSP00000352400:A1829T;ENSP00000396576:A1819T;ENSP00000405014:A1830T;ENSP00000436793:A655T	ENSP00000352400:A1829T	A	+	1	0	NUP214	133064187	0.532000	0.26346	0.445000	0.26908	0.013000	0.08279	0.973000	0.29422	2.885000	0.99019	0.655000	0.94253	GCA		PASS	0.502	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		10	46	10	46	---	---	---	---
GATA3	2625	broad.mit.edu	37	10	8115917	8115917	+	Silent	SNP	G	G	T	rs541782074		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr10:8115917G>T	ENST00000346208.3	+	6	1718	c.1263G>T	c.(1261-1263)ccG>ccT	p.P421P	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Silent_p.P422P			P23771	GATA3_HUMAN	GATA binding protein 3	421					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.P422P(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CGCCCACGCCGATGCACCCGC	0.647			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															uc001ika.2				Rec	yes		10	10p15	2625	F|N|S	GATA binding protein 3	yes	HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)	E			breast		1	Substitution - coding silent(1)		lung(1)	breast(17)|ovary(3)|central_nervous_system(2)	22						c.(1261-1263)CCG>CCT		GATA binding protein 3 isoform 2							94.0	79.0	84.0					10																	8115917		2203	4300	6503	SO:0001819	synonymous_variant	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8115917G>T	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1263G>T	10.37:g.8115917G>T						GATA3_uc001ijz.2_Silent_p.P422P	p.P421P	NM_002051	NP_002042	P23771	GATA3_HUMAN			6	1820	+			421					Q5VWG7|Q5VWG8|Q96J16	Silent	SNP	ENST00000346208.3	37	c.1263G>T	CCDS7083.1																																																																																				PASS	0.647	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		11	21	11	21	---	---	---	---
ARMC4	55130	broad.mit.edu	37	10	28229604	28229604	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr10:28229604T>A	ENST00000305242.5	-	13	1966	c.1874A>T	c.(1873-1875)aAa>aTa	p.K625I	ARMC4_ENST00000537576.1_Missense_Mutation_p.K317I|ARMC4_ENST00000545014.1_Missense_Mutation_p.K150I	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	625					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.K625I(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GATGGCTTCTTTATTCGTATG	0.532																																						uc009xky.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(1873-1875)AAA>ATA		armadillo repeat containing 4							120.0	109.0	113.0					10																	28229604		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28229604T>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1874A>T	10.37:g.28229604T>A	ENSP00000306410:p.Lys625Ile					ARMC4_uc010qds.1_Missense_Mutation_p.K150I|ARMC4_uc010qdt.1_Missense_Mutation_p.K317I|ARMC4_uc001itz.2_Missense_Mutation_p.K625I|ARMC4_uc010qdu.1_Missense_Mutation_p.K317I	p.K625I	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			13	1972	-			625			ARM 3.		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.1874A>T	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.810174	0.50421	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.69806	-0.43;-0.43;-0.43	5.24	4.11	0.48088	Armadillo-like helical (1);Armadillo-type fold (2);	0.044172	0.85682	N	0.000000	T	0.75831	0.3903	M	0.72576	2.205	0.80722	D	1	D;P	0.56035	0.974;0.942	P;P	0.58331	0.837;0.714	T	0.77270	-0.2650	10	0.72032	D	0.01	-18.5935	10.8171	0.46583	0.0:0.0744:0.0:0.9256	.	150;625	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	I	317;625;150	ENSP00000443208:K317I;ENSP00000306410:K625I;ENSP00000441076:K150I	ENSP00000306410:K625I	K	-	2	0	ARMC4	28269610	1.000000	0.71417	0.687000	0.30102	0.013000	0.08279	7.695000	0.84257	0.945000	0.37605	0.533000	0.62120	AAA		PASS	0.532	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		46	48	46	48	---	---	---	---
MTPAP	55149	broad.mit.edu	37	10	30625753	30625753	+	Silent	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr10:30625753G>T	ENST00000263063.4	-	4	802	c.759C>A	c.(757-759)acC>acA	p.T253T	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Silent_p.T383T	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	253					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)	p.T383T(1)|p.T253T(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TGAGGTTTCTGGTTTCATCTA	0.353																																						uc001iva.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(757-759)ACC>ACA		PAP associated domain containing 1 precursor							223.0	241.0	235.0					10																	30625753		2203	4300	6503	SO:0001819	synonymous_variant	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30625753G>T	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.759C>A	10.37:g.30625753G>T						MTPAP_uc001ivb.3_Silent_p.T383T	p.T253T	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN			4	822	-			253					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Silent	SNP	ENST00000263063.4	37	c.759C>A	CCDS7165.1																																																																																				PASS	0.353	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		63	399	63	399	---	---	---	---
ZNF248	57209	broad.mit.edu	37	10	38120707	38120707	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr10:38120707C>A	ENST00000395867.3	-	6	2126	c.1576G>T	c.(1576-1578)Ggg>Tgg	p.G526W	AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000357328.4_Missense_Mutation_p.G526W|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	526					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.G526W(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						AAGGTTTTCCCACATTCATTA	0.403																																						uc001izd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1576-1578)GGG>TGG		zinc finger protein 248							124.0	114.0	117.0					10																	38120707		2203	4300	6503	SO:0001583	missense	57209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38120707C>A	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1576G>T	10.37:g.38120707C>A	ENSP00000379208:p.Gly526Trp					ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.G526W	p.G526W	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN			6	2075	-			526			C2H2-type 7.		Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	37	c.1576G>T	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529085	0.64860	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.01051	5.4;5.4	4.52	4.52	0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.131936	0.35291	N	0.003319	T	0.09158	0.0226	M	0.90705	3.14	0.50313	D	0.999865	D	0.89917	1.0	D	0.85130	0.997	T	0.00402	-1.1762	10	0.87932	D	0	.	15.1139	0.72384	0.0:1.0:0.0:0.0	.	526	Q8NDW4	ZN248_HUMAN	W	526	ENSP00000379208:G526W;ENSP00000349882:G526W	ENSP00000349882:G526W	G	-	1	0	ZNF248	38160713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.690000	0.68241	2.509000	0.84616	0.650000	0.86243	GGG		PASS	0.403	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		25	54	25	54	---	---	---	---
BMS1	9790	broad.mit.edu	37	10	43325852	43325852	+	Silent	SNP	C	C	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr10:43325852C>G	ENST00000374518.5	+	22	3663	c.3600C>G	c.(3598-3600)cgC>cgG	p.R1200R	RNU6-885P_ENST00000516607.1_RNA	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1200					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.R1200R(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCGTCATACGCGAGCCTCATG	0.512																																						uc001jaj.2																			1	Substitution - coding silent(1)	p.R1200G(1)	lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(3598-3600)CGC>CGG		BMS1-like, ribosome assembly protein							56.0	57.0	57.0					10																	43325852		2203	4300	6503	SO:0001819	synonymous_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43325852C>G	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3600C>G	10.37:g.43325852C>G							p.R1200R	NM_014753	NP_055568	Q14692	BMS1_HUMAN			22	3958	+			1200					Q5QPT5|Q86XJ9	Silent	SNP	ENST00000374518.5	37	c.3600C>G	CCDS7199.1																																																																																				PASS	0.512	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		3	46	3	46	---	---	---	---
LRRTM3	347731	broad.mit.edu	37	10	68687494	68687494	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr10:68687494T>A	ENST00000361320.4	+	2	1398	c.820T>A	c.(820-822)Ttc>Atc	p.F274I	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	274					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.F274I(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						ACCCAGTGTTTTCCAGTGTGT	0.458																																						uc001jmz.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(820-822)TTC>ATC		leucine rich repeat transmembrane neuronal 3							109.0	116.0	113.0					10																	68687494		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687494T>A	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.820T>A	10.37:g.68687494T>A	ENSP00000355187:p.Phe274Ile					CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.F274I	p.F274I	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	1370	+			274			Extracellular (Potential).|LRR 9.		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.820T>A	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.662768	0.67700	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.70045	-0.45	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000001	T	0.80401	0.4616	M	0.69248	2.105	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.79108	0.992;0.972	T	0.82348	-0.0502	10	0.87932	D	0	.	15.3117	0.74039	0.0:0.0:0.0:1.0	.	274;274	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	I	274	ENSP00000355187:F274I	ENSP00000355187:F274I	F	+	1	0	LRRTM3	68357500	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.257000	0.74773	0.528000	0.53228	TTC		PASS	0.458	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		54	68	54	68	---	---	---	---
TYSND1	219743	broad.mit.edu	37	10	71899765	71899765	+	Missense_Mutation	SNP	C	C	T	rs148744638		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr10:71899765C>T	ENST00000287078.6	-	4	1615	c.1616G>A	c.(1615-1617)cGt>cAt	p.R539H	TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_3'UTR	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	539					protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)	p.R539H(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						GTCCAGCTCACGGAGGCCACC	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		17408	0.001		0.0	False		,,,				2504	0.0					uc001jqr.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1615-1617)CGT>CAT		trypsin domain containing 1 isoform a		C	,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	80.0	77.0	78.0		,1616	2.1	0.4	10	dbSNP_134	78	0,8600		0,0,4300	yes	utr-3,missense	TYSND1	NM_001040273.1,NM_173555.2	,29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,probably-damaging	,539/567	71899765	3,13003	2203	4300	6503	SO:0001583	missense	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71899765C>T	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.1616G>A	10.37:g.71899765C>T	ENSP00000287078:p.Arg539His					TYSND1_uc001jqq.2_RNA|TYSND1_uc001jqs.2_3'UTR|TYSND1_uc001jqt.2_RNA	p.R539H	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN			4	1770	-			539					Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Missense_Mutation	SNP	ENST00000287078.6	37	c.1616G>A	CCDS31213.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.09	2.432881	0.43224	6.81E-4	0.0	ENSG00000156521	ENST00000287078	T	0.46063	0.88	5.95	2.09	0.27110	.	0.432878	0.23537	N	0.047104	T	0.25232	0.0613	L	0.44542	1.39	0.09310	N	1	P	0.36144	0.539	B	0.19391	0.025	T	0.19063	-1.0317	10	0.59425	D	0.04	-9.614	4.8227	0.13400	0.0:0.4714:0.1454:0.3832	.	539	Q2T9J0	TYSD1_HUMAN	H	539	ENSP00000287078:R539H	ENSP00000287078:R539H	R	-	2	0	TYSND1	71569771	0.005000	0.15991	0.402000	0.26371	0.025000	0.11179	0.174000	0.16743	0.426000	0.26116	0.563000	0.77884	CGT		PASS	0.672	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		4	54	4	54	---	---	---	---
USP54	159195	broad.mit.edu	37	10	75279616	75279616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr10:75279616G>A	ENST00000339859.4	-	18	2717	c.2617C>T	c.(2617-2619)Cag>Tag	p.Q873*	USP54_ENST00000408019.1_Nonsense_Mutation_p.Q873*|USP54_ENST00000428547.1_Nonsense_Mutation_p.Q723*|USP54_ENST00000394811.2_5'UTR|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000497106.1_Intron|USP54_ENST00000422491.2_Nonsense_Mutation_p.Q55*			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	873					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.Q873*(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TGCGACGGCTGCTGTGGTGAT	0.552																																					Colon(195;880 2046 8854 25025 38456)	uc001juo.2																			1	Substitution - Nonsense(1)		lung(1)	breast(3)|lung(2)|kidney(1)	6						c.(2617-2619)CAG>TAG		ubiquitin specific peptidase 54							45.0	53.0	50.0					10																	75279616		2168	4283	6451	SO:0001587	stop_gained	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75279616G>A	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2617C>T	10.37:g.75279616G>A	ENSP00000345216:p.Gln873*					USP54_uc010qkk.1_Nonsense_Mutation_p.Q55*|USP54_uc001juk.2_Intron|USP54_uc001jul.2_Intron|USP54_uc001jum.2_Intron|USP54_uc001jun.2_Intron|USP54_uc001jup.2_Nonsense_Mutation_p.Q873*	p.Q873*	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			17	2634	-	Prostate(51;0.0112)		873					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Nonsense_Mutation	SNP	ENST00000339859.4	37	c.2617C>T	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	G	37	6.207027	0.97376	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000422491	.	.	.	5.73	5.73	0.89815	.	0.948643	0.08679	U	0.909748	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-0.0196	20.2786	0.98501	0.0:0.0:1.0:0.0	.	.	.	.	X	873;873;723;55	.	ENSP00000345216:Q873X	Q	-	1	0	USP54	74949622	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	5.603000	0.67619	2.868000	0.98415	0.557000	0.71058	CAG		PASS	0.552	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		14	15	14	15	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81058301	81058301	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr10:81058301A>G	ENST00000334512.5	+	15	2202	c.1630A>G	c.(1630-1632)Atc>Gtc	p.I544V		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	544	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.I544V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCCGCCTGACATCAAGCCAAA	0.662																																						uc001kaf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(1630-1632)ATC>GTC		retinoic acid induced 17							105.0	103.0	104.0					10																	81058301		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81058301A>G	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1630A>G	10.37:g.81058301A>G	ENSP00000334474:p.Ile544Val					ZMIZ1_uc001kag.2_Missense_Mutation_p.I420V	p.I544V	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		15	2202	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		544			Pro-rich.		Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.1630A>G	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.615884	0.46631	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.54071	0.59	5.12	5.12	0.69794	.	0.000000	0.42053	D	0.000780	T	0.46112	0.1376	L	0.46614	1.455	0.80722	D	1	B	0.18166	0.026	B	0.16722	0.016	T	0.35798	-0.9774	10	0.21014	T	0.42	-18.6481	14.9189	0.70818	1.0:0.0:0.0:0.0	.	544	Q9ULJ6	ZMIZ1_HUMAN	V	544;474;451	ENSP00000334474:I544V	ENSP00000334474:I544V	I	+	1	0	ZMIZ1	80728307	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.882000	0.92420	1.936000	0.56123	0.379000	0.24179	ATC		PASS	0.662	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		18	26	18	26	---	---	---	---
IFIT3	3437	broad.mit.edu	37	10	91099423	91099423	+	Silent	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr10:91099423G>A	ENST00000371818.4	+	2	1191	c.1011G>A	c.(1009-1011)gaG>gaA	p.E337E	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Silent_p.E337E	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	337					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)	p.E337E(1)		breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						ATCTCGCTGAGTTCCTGGAGA	0.423																																						uc001kgf.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1009-1011)GAG>GAA		interferon-induced protein with							97.0	87.0	90.0					10																	91099423		2203	4300	6503	SO:0001819	synonymous_variant	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91099423G>A	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.1011G>A	10.37:g.91099423G>A						LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Silent_p.E337E	p.E337E	NM_001549	NP_001540	O14879	IFIT3_HUMAN			2	1240	+			337					Q99634|Q9BSK7	Silent	SNP	ENST00000371818.4	37	c.1011G>A	CCDS7402.1																																																																																				PASS	0.423	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549		21	35	21	35	---	---	---	---
SLIT1	6585	broad.mit.edu	37	10	98819234	98819234	+	Silent	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr10:98819234G>A	ENST00000266058.4	-	11	1313	c.1068C>T	c.(1066-1068)ctC>ctT	p.L356L	SLIT1_ENST00000371070.4_Silent_p.L356L|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.L356L	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	356					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.L356L(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)		TCAGGGAGCGGAGGCCCTGGA	0.617																																						uc001kmw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1066-1068)CTC>CTT		slit homolog 1 precursor							88.0	80.0	83.0					10																	98819234		2203	4300	6503	SO:0001819	synonymous_variant	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.chr10:98819234G>A	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.1068C>T	10.37:g.98819234G>A						SLIT1_uc009xvh.1_Silent_p.L366L	p.L356L	NM_003061	NP_003052	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	11	1320	-		Colorectal(252;0.162)	356					Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.1068C>T	CCDS7453.1																																																																																				PASS	0.617	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		6	21	6	21	---	---	---	---
CFAP58	159686	broad.mit.edu	37	10	106209899	106209899	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr10:106209899C>A	ENST00000369704.3	+	17	2581	c.2447C>A	c.(2446-2448)aCc>aAc	p.T816N		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		816						extracellular space (GO:0005615)		p.T816N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAGAAACTTACCAATGAGCTC	0.328																																						uc001kyh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(2446-2448)ACC>AAC		coiled-coil domain containing 147							77.0	81.0	80.0					10																	106209899		2203	4300	6503	SO:0001583	missense	159686							g.chr10:106209899C>A																												ENST00000369704.3:c.2447C>A	10.37:g.106209899C>A	ENSP00000358718:p.Thr816Asn						p.T816N	NM_001008723	NP_001008723	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	17	2581	+		Colorectal(252;0.103)|Breast(234;0.122)	816			Potential.		D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	c.2447C>A	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	C	9.206	1.029691	0.19512	.	.	ENSG00000120051	ENST00000369704	T	0.43688	0.94	5.76	-1.02	0.10135	.	0.751903	0.13006	N	0.421292	T	0.25382	0.0617	N	0.12853	0.265	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.19353	-1.0308	10	0.12430	T	0.62	0.0146	18.5125	0.90921	0.0874:0.2389:0.6737:0.0	.	816	Q5T655	CC147_HUMAN	N	816	ENSP00000358718:T816N	ENSP00000358718:T816N	T	+	2	0	CCDC147	106199889	0.901000	0.30685	0.276000	0.24689	0.613000	0.37349	0.178000	0.16820	-0.481000	0.06792	-0.182000	0.12963	ACC		PASS	0.328	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			16	86	16	86	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106918650	106918650	+	Splice_Site	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr10:106918650C>A	ENST00000369701.3	+	11	1857	c.1630C>A	c.(1630-1632)Ccc>Acc	p.P544T		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	544					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.P544T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCCATTTTAGCCCTTCTGTTC	0.473																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(1630-1632)CCC>ACC		VPS10 domain receptor protein SORCS 3 precursor							104.0	85.0	92.0					10																	106918650		2203	4300	6503	SO:0001630	splice_region_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106918650C>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1630-1C>A	10.37:g.106918650C>A							p.P544T	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	11	1857	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	544			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1630C>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485036	0.84854	.	.	ENSG00000156395	ENST00000369701	T	0.46063	0.88	5.4	5.4	0.78164	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.63838	0.2545	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60469	-0.7257	9	.	.	.	.	19.5511	0.95322	0.0:1.0:0.0:0.0	.	544	Q9UPU3	SORC3_HUMAN	T	544	ENSP00000358715:P544T	.	P	+	1	0	SORCS3	106908640	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.776000	0.85560	2.704000	0.92352	0.650000	0.86243	CCC		PASS	0.473	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	Missense_Mutation	12	39	12	39	---	---	---	---
CACUL1	143384	broad.mit.edu	37	10	120514170	120514170	+	Silent	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr10:120514170G>A	ENST00000369151.3	-	1	588	c.105C>T	c.(103-105)ccC>ccT	p.P35P	CACUL1_ENST00000340214.4_Silent_p.P35P	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	35	Pro-rich.				G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)	p.P35P(1)									GAGGTGGCAGGGGCTGCCGGA	0.701																																						uc001lds.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(103-105)CCC>CCT		chromosome 10 open reading frame 46							19.0	24.0	23.0					10																	120514170		1940	4130	6070	SO:0001819	synonymous_variant	143384				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:120514170G>A	AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"""Cdk-Associated Cullin1"""		"""chromosome 10 open reading frame 46"""	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.105C>T	10.37:g.120514170G>A						C10orf46_uc010qst.1_RNA	p.P35P	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN		all cancers(201;0.0131)	1	589	-		Lung NSC(174;0.142)|all_lung(145;0.175)	35			Pro-rich.		Q5XPL7|Q8IY11|Q8N7S4	Silent	SNP	ENST00000369151.3	37	c.105C>T	CCDS41570.1																																																																																				PASS	0.701	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050612.2	NM_153810		11	18	11	18	---	---	---	---
TIAL1	7073	broad.mit.edu	37	10	121347733	121347733	+	Silent	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr10:121347733C>A	ENST00000436547.2	-	2	104	c.60G>T	c.(58-60)gtG>gtT	p.V20V	TIAL1_ENST00000369093.2_Silent_p.V20V|TIAL1_ENST00000369092.4_5'UTR	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	20	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V20V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		GGACTTCTGTCACATCTCTGG	0.378																																						uc001lei.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(58-60)GTG>GTT		TIA-1 related protein isoform 1							119.0	109.0	112.0					10																	121347733		2203	4300	6503	SO:0001819	synonymous_variant	7073				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding	g.chr10:121347733C>A	AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.60G>T	10.37:g.121347733C>A						TIAL1_uc001leh.1_5'UTR|TIAL1_uc001lej.1_Silent_p.V20V|TIAL1_uc001lek.1_5'UTR|TIAL1_uc009xzi.1_Intron|TIAL1_uc010qtb.1_5'UTR	p.V20V	NM_003252	NP_003243	Q01085	TIAR_HUMAN		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)	2	624	-		Lung NSC(174;0.094)|all_lung(145;0.123)	20			RRM 1.		A8K3T0|A8K4L9	Silent	SNP	ENST00000436547.2	37	c.60G>T	CCDS7613.1																																																																																				PASS	0.378	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	NM_022333, NM_003252		18	29	18	29	---	---	---	---
ATE1	11101	broad.mit.edu	37	10	123600614	123600614	+	Silent	SNP	G	G	A	rs150860078	byFrequency	TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr10:123600614G>A	ENST00000224652.6	-	9	1225	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G	ATE1_ENST00000481784.1_5'Flank|ATE1_ENST00000543447.1_Silent_p.G265G|ATE1_ENST00000369040.3_Silent_p.G284G|ATE1_ENST00000369043.3_Silent_p.G380G|ATE1_ENST00000540606.1_Silent_p.G373G|ATE1_ENST00000535655.1_Silent_p.G81G	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	380					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)	p.G380G(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CAGAGTAGACGCCCAAAGACA	0.363													G|||	4	0.000798722	0.003	0.0	5008	,	,		11971	0.0		0.0	False		,,,				2504	0.0					uc001lfp.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1138-1140)GGC>GGT		arginyltransferase 1 isoform 2		G	,	7,4399	14.3+/-33.2	0,7,2196	88.0	70.0	76.0		1140,1140	-5.4	1.0	10	dbSNP_134	76	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	ATE1	NM_001001976.1,NM_007041.2	,	0,10,6493	AA,AG,GG		0.0349,0.1589,0.0769	,	380/519,380/519	123600614	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123600614G>A	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1140C>T	10.37:g.123600614G>A						ATE1_uc001lfq.2_Silent_p.G380G|ATE1_uc010qtr.1_Silent_p.G265G|ATE1_uc010qts.1_Silent_p.G284G|ATE1_uc010qtt.1_Silent_p.G373G|ATE1_uc001lfr.2_Silent_p.G81G|ATE1_uc009xzu.2_RNA	p.G380G	NM_007041	NP_008972	O95260	ATE1_HUMAN			9	1222	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	380					O95261|Q5SQQ3|Q8WW04	Silent	SNP	ENST00000224652.6	37	c.1140C>T	CCDS31300.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	8.198	0.797575	0.16327	0.001589	3.49E-4	ENSG00000107669	ENST00000423243	.	.	.	5.64	-5.45	0.02616	.	.	.	.	.	T	0.35098	0.0920	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40421	-0.9564	4	.	.	.	-22.996	0.6016	0.00745	0.2479:0.2663:0.2587:0.227	.	.	.	.	C	377	.	.	R	-	1	0	ATE1	123590604	0.744000	0.28250	0.969000	0.41365	0.766000	0.43426	-0.204000	0.09425	-0.808000	0.04387	-1.004000	0.02495	CGT		PASS	0.363	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		3	4	3	4	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124390692	124390692	+	Missense_Mutation	SNP	G	G	A	rs369454959		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr10:124390692G>A	ENST00000338354.3	+	46	5960	c.5854G>A	c.(5854-5856)Gat>Aat	p.D1952N	DMBT1_ENST00000368955.3_Missense_Mutation_p.D1942N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1324N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1324N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D1952N|DMBT1_ENST00000359586.6_Missense_Mutation_p.D672N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1942N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1952	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				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.D1952N(2)|p.D2081N(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)				CACCCTGGACGATGTAGAGTG	0.557																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(7)	7						c.(5854-5856)GAT>AAT		deleted in malignant brain tumors 1 isoform b		G	ASN/ASP,ASN/ASP,ASN/ASP	0,4080		0,0,2040	139.0	138.0	139.0		3970,5854,5824	3.5	0.0	10		139	1,8377		0,1,4188	no	missense,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	23,23,23	0,1,6228	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging,possibly-damaging,possibly-damaging	1324/1786,1952/2414,1942/2404	124390692	1,12457	2040	4189	6229	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.chr10:124390692G>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	ENST00000338354.3:c.5854G>A	10.37:g.124390692G>A	ENSP00000342210:p.Asp1952Asn					DMBT1_uc001lgl.1_Missense_Mutation_p.D1942N|DMBT1_uc001lgm.1_Missense_Mutation_p.D1324N|DMBT1_uc009xzz.1_Missense_Mutation_p.D1952N|DMBT1_uc010qtx.1_Missense_Mutation_p.D672N|DMBT1_uc009yab.1_Missense_Mutation_p.D655N|DMBT1_uc009yac.1_Missense_Mutation_p.D246N	p.D1952N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			46	5960	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1952			SRCR 14.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.5854G>A		.	.	.	.	.	.	.	.	.	.	G	13.13	2.145619	0.37923	0.0	1.19E-4	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.41	3.53	0.40419	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.51295	0.1666	L	0.41906	1.305	0.29616	N	0.846574	P;D;B;D;P;D;D	0.89917	0.941;1.0;0.178;0.994;0.849;0.999;0.985	P;D;B;D;B;D;P	0.80764	0.494;0.978;0.043;0.946;0.108;0.994;0.792	T	0.44787	-0.9305	9	0.22706	T	0.39	.	11.2813	0.49197	0.2075:0.0:0.7925:0.0	.	672;1932;1201;2081;1324;1942;1952	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	N	1952;2081;1952;1952;1952;1952;1324;1942;1324;1324;1952;1942;1324;98;672	ENSP00000342210:D1952N;ENSP00000343175:D1942N;ENSP00000327747:D1324N;ENSP00000357905:D1952N;ENSP00000357951:D1942N;ENSP00000357952:D1324N;ENSP00000352593:D672N	ENSP00000331522:D1324N	D	+	1	0	DMBT1	124380682	0.003000	0.15002	0.006000	0.13384	0.002000	0.02628	0.058000	0.14301	0.629000	0.30376	-0.136000	0.14681	GAT		PASS	0.557	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		22	50	22	50	---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3794901	3794901	+	Silent	SNP	A	A	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr11:3794901A>G	ENST00000324932.7	-	6	984	c.564T>C	c.(562-564)tgT>tgC	p.C188C	NUP98_ENST00000359171.4_Silent_p.C188C|NUP98_ENST00000355260.3_Silent_p.C188C|NUP98_ENST00000397007.4_Silent_p.C188C|NUP98_ENST00000397004.4_Silent_p.C188C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	188	GLEBS; interaction with RAE1.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|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)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.C188C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TAGCAGTAATACACTGGTGCT	0.363			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	uc001lyh.2				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		1	Substitution - coding silent(1)		lung(1)	breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(562-564)TGT>TGC		nucleoporin 98kD isoform 1							138.0	118.0	124.0					11																	3794901		2201	4298	6499	SO:0001819	synonymous_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3794901A>G	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.564T>C	11.37:g.3794901A>G						NUP98_uc001lyi.2_Silent_p.C188C|NUP98_uc001lyj.1_Silent_p.C188C|NUP98_uc001lyk.1_Silent_p.C188C|NUP98_uc010qxv.1_Silent_p.C151C	p.C188C	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	6	855	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	188			Gly/Thr-rich.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	c.564T>C	CCDS7746.1																																																																																				PASS	0.363	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		7	25	7	25	---	---	---	---
OR52N5	390075	broad.mit.edu	37	11	5799050	5799050	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr11:5799050C>T	ENST00000317093.2	-	1	847	c.815G>A	c.(814-816)cGt>cAt	p.R272H	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R272H(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TCCCCCAAAACGGTGGGCAAA	0.453																																						uc010qzn.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(814-816)CGT>CAT		olfactory receptor, family 52, subfamily N,							104.0	102.0	103.0					11																	5799050		2121	4085	6206	SO:0001583	missense	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799050C>T	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.815G>A	11.37:g.5799050C>T	ENSP00000322866:p.Arg272His					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.R272H	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	815	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	272			Extracellular (Potential).		B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	c.815G>A	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842043	0.32513	.	.	ENSG00000181009	ENST00000317093	T	0.37235	1.21	3.77	1.3	0.21679	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.35008	0.0917	M	0.73217	2.22	0.24027	N	0.996126	B	0.24963	0.115	B	0.26693	0.072	T	0.37596	-0.9699	9	0.66056	D	0.02	.	5.4119	0.16352	0.1779:0.675:0.0:0.1471	.	272	Q8NH56	O52N5_HUMAN	H	272	ENSP00000322866:R272H	ENSP00000322866:R272H	R	-	2	0	OR52N5	5755626	0.029000	0.19370	0.871000	0.34182	0.652000	0.38707	1.707000	0.37888	0.175000	0.19841	0.400000	0.26472	CGT		PASS	0.453	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		17	17	17	17	---	---	---	---
OR2D3	120775	broad.mit.edu	37	11	6942355	6942355	+	Silent	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr11:6942355C>A	ENST00000317834.3	+	1	151	c.123C>A	c.(121-123)atC>atA	p.I41I		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I41I(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGACCCAGATCCTGCTATTTA	0.433																																						uc010rav.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(121-123)ATC>ATA		olfactory receptor, family 2, subfamily D,							107.0	106.0	107.0					11																	6942355		2201	4296	6497	SO:0001819	synonymous_variant	120775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6942355C>A	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.123C>A	11.37:g.6942355C>A							p.I41I	NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	123	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	41			Extracellular (Potential).		B2RP06|Q6IFG8|Q96R51	Silent	SNP	ENST00000317834.3	37	c.123C>A	CCDS31417.1																																																																																				PASS	0.433	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		24	43	24	43	---	---	---	---
OR5P3	120066	broad.mit.edu	37	11	7847314	7847314	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr11:7847314A>G	ENST00000328375.1	-	1	205	c.206T>C	c.(205-207)gTa>gCa	p.V69A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V69A(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCCAATGTCTACAAAGGCCAA	0.443																																						uc010rbg.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(205-207)GTA>GCA		olfactory receptor, family 5, subfamily P,							109.0	107.0	107.0					11																	7847314		2186	4296	6482	SO:0001583	missense	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7847314A>G	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"""GPCR / Class A : Olfactory receptors"""	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.206T>C	11.37:g.7847314A>G	ENSP00000332068:p.Val69Ala						p.V69A	NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	206	-			69			Helical; Name=2; (Potential).		Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	37	c.206T>C	CCDS7783.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.367591	0.42003	.	.	ENSG00000182334	ENST00000328375	T	0.03124	4.04	5.28	-5.34	0.02705	GPCR, rhodopsin-like superfamily (1);	0.174249	0.26750	U	0.022690	T	0.06416	0.0165	L	0.58669	1.825	0.09310	N	1	P	0.47350	0.894	P	0.51866	0.682	T	0.01242	-1.1408	10	0.45353	T	0.12	-10.3034	9.4214	0.38553	0.3156:0.1246:0.5598:0.0	.	69	Q8WZ94	OR5P3_HUMAN	A	69	ENSP00000332068:V69A	ENSP00000332068:V69A	V	-	2	0	OR5P3	7803890	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.298000	0.08265	-1.162000	0.02797	-0.937000	0.02696	GTA		PASS	0.443	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		3	49	3	49	---	---	---	---
ALX4	60529	broad.mit.edu	37	11	44286627	44286627	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr11:44286627G>A	ENST00000329255.3	-	4	1116	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	338					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P338L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						AGAGCCAGGGGGGTGGGCATG	0.687																																						uc001myb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1012-1014)CCC>CTC		aristaless-like homeobox 4							26.0	27.0	27.0					11																	44286627		2202	4297	6499	SO:0001583	missense	60529				hair follicle development			g.chr11:44286627G>A	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.1013C>T	11.37:g.44286627G>A	ENSP00000332744:p.Pro338Leu						p.P338L	NM_021926	NP_068745	Q9H161	ALX4_HUMAN			4	1117	-			338					Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	c.1013C>T	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051563	0.93793	.	.	ENSG00000052850	ENST00000329255	D	0.92299	-3.01	5.37	5.37	0.77165	.	0.232265	0.37393	N	0.002118	D	0.94591	0.8257	L	0.52573	1.65	0.80722	D	1	D	0.67145	0.996	D	0.63793	0.918	D	0.94879	0.8037	10	0.87932	D	0	.	19.4857	0.95027	0.0:0.0:1.0:0.0	.	338	Q9H161	ALX4_HUMAN	L	338	ENSP00000332744:P338L	ENSP00000332744:P338L	P	-	2	0	ALX4	44243203	1.000000	0.71417	0.990000	0.47175	0.941000	0.58515	6.872000	0.75536	2.677000	0.91161	0.561000	0.74099	CCC		PASS	0.687	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			10	10	10	10	---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328546	48328546	+	Missense_Mutation	SNP	C	C	T	rs369830806		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr11:48328546C>T	ENST00000319988.1	+	1	772	c.772C>T	c.(772-774)Cgt>Tgt	p.R258C		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R258C(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CATGTACATTCGTCCCTCCAC	0.488																																						uc010rhu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(772-774)CGT>TGT		olfactory receptor, family 4, subfamily S,							233.0	211.0	219.0					11																	48328546		2201	4298	6499	SO:0001583	missense	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328546C>T	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.772C>T	11.37:g.48328546C>T	ENSP00000321447:p.Arg258Cys						p.R258C	NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN			1	772	+			258			Extracellular (Potential).		Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	c.772C>T	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656451	0.47467	.	.	ENSG00000176555	ENST00000319988	T	0.35789	1.29	5.02	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.54351	0.1853	M	0.67700	2.07	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.38757	-0.9646	9	0.87932	D	0	.	7.7718	0.29012	0.1672:0.7447:0.0:0.0881	.	258	Q8NGB4	OR4S1_HUMAN	C	258	ENSP00000321447:R258C	ENSP00000321447:R258C	R	+	1	0	OR4S1	48285122	0.000000	0.05858	0.216000	0.23742	0.848000	0.48234	0.031000	0.13710	0.589000	0.29677	-0.136000	0.14681	CGT		PASS	0.488	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		37	47	37	47	---	---	---	---
OR8I2	120586	broad.mit.edu	37	11	55861449	55861449	+	Silent	SNP	A	A	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr11:55861449A>T	ENST00000302124.2	+	1	697	c.666A>T	c.(664-666)tcA>tcT	p.S222S		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S222S(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TCATCATCTCAGCCATCCTGA	0.468																																						uc010rix.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(664-666)TCA>TCT		olfactory receptor, family 8, subfamily I,							138.0	121.0	127.0					11																	55861449		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861449A>T	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.666A>T	11.37:g.55861449A>T							p.S222S	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	666	+	Esophageal squamous(21;0.00693)		222			Cytoplasmic (Potential).		B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.666A>T	CCDS31517.1																																																																																				PASS	0.468	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		36	41	36	41	---	---	---	---
OR8H1	219469	broad.mit.edu	37	11	56057959	56057959	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr11:56057959T>A	ENST00000313022.2	-	1	607	c.580A>T	c.(580-582)Att>Ttt	p.I194F		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I194F(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					ATGATTTCAATGTCGTATGTG	0.428																																						uc010rje.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(580-582)ATT>TTT		olfactory receptor, family 8, subfamily H,							143.0	128.0	133.0					11																	56057959		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56057959T>A	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.580A>T	11.37:g.56057959T>A	ENSP00000323595:p.Ile194Phe						p.I194F	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			1	580	-	Esophageal squamous(21;0.00448)		194			Extracellular (Potential).		B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.580A>T	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	T	3.422	-0.117903	0.06838	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.00099	8.73	3.81	-1.95	0.07548	GPCR, rhodopsin-like superfamily (1);	1.231100	0.05566	N	0.570181	T	0.00144	0.0004	L	0.33245	0.995	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.18272	-1.0342	10	0.87932	D	0	.	5.6493	0.17606	0.1425:0.4387:0.0:0.4188	.	194	Q8NGG4	OR8H1_HUMAN	F	194;190	ENSP00000323595:I194F	ENSP00000323595:I194F	I	-	1	0	OR8H1	55814535	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.086000	0.11233	-0.135000	0.11495	0.467000	0.42956	ATT		PASS	0.428	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		11	64	11	64	---	---	---	---
OOSP2	219990	broad.mit.edu	37	11	59814493	59814493	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr11:59814493C>G	ENST00000278855.2	+	4	609	c.424C>G	c.(424-426)Cag>Gag	p.Q142E		NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		142						extracellular region (GO:0005576)		p.Q142E(1)		breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TGCTGACTTTCAGACAACAGC	0.373																																						uc001nol.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(424-426)CAG>GAG		placenta-specific 1-like precursor							124.0	124.0	124.0					11																	59814493		2201	4295	6496	SO:0001583	missense	219990					extracellular region		g.chr11:59814493C>G																												ENST00000278855.2:c.424C>G	11.37:g.59814493C>G	ENSP00000278855:p.Gln142Glu						p.Q142E	NM_173801	NP_776162	Q86WS3	PLACL_HUMAN			4	609	+			142					E9PJA4|Q8N9U6	Missense_Mutation	SNP	ENST00000278855.2	37	c.424C>G	CCDS7979.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.621529	0.00820	.	.	ENSG00000149507	ENST00000278855	.	.	.	3.28	-3.76	0.04359	.	0.867952	0.09358	N	0.813185	T	0.09598	0.0236	N	0.02142	-0.665	0.26053	N	0.981458	B	0.02656	0.0	B	0.01281	0.0	T	0.31392	-0.9945	9	0.02654	T	1	-0.2282	5.3087	0.15817	0.3171:0.4125:0.2704:0.0	.	142	Q86WS3	PLACL_HUMAN	E	142	.	ENSP00000278855:Q142E	Q	+	1	0	PLAC1L	59571069	0.004000	0.15560	0.208000	0.23602	0.890000	0.51754	-1.434000	0.02425	-0.918000	0.03808	-0.312000	0.09012	CAG		PASS	0.373	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1			4	78	4	78	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61081072	61081072	+	Silent	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr11:61081072G>T	ENST00000301764.7	-	16	2365	c.1968C>A	c.(1966-1968)ccC>ccA	p.P656P	DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	656	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.P656P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AGATGACAGTGGGGCGGTCAG	0.483								Nucleotide excision repair (NER)																														uc001nrc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1966-1968)CCC>CCA	NER	damage-specific DNA binding protein 1							139.0	132.0	134.0					11																	61081072		2203	4299	6502	SO:0001819	synonymous_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61081072G>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1968C>A	11.37:g.61081072G>T						DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.P656P	p.P656P	NM_001923	NP_001914	Q16531	DDB1_HUMAN			16	2194	-			656			Interaction with CDT1.|Interaction with CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	c.1968C>A	CCDS31576.1																																																																																				PASS	0.483	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		5	21	5	21	---	---	---	---
CTSF	8722	broad.mit.edu	37	11	66330314	66330314	+	IGR	SNP	A	A	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr11:66330314A>T	ENST00000310325.5	-	0	2035				ACTN3_ENST00000513398.1_RNA|CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000502692.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ACCCCAACGCAGCTGGGGTGG	0.567																																						uc001oio.1																			0					0						c.(2434-2436)GCA>GCT		actinin, alpha 3							141.0	157.0	151.0					11																	66330314		2198	4294	6492	SO:0001628	intergenic_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66330314A>T	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66330314A>T						ACTN3_uc010rpi.1_RNA	p.A812A	NM_001104	NP_001095	Q08043	ACTN3_HUMAN			21	2454	+			812			EF-hand 2.|2; possibly ancestral.		B2R964|O95240|Q9NSU4|Q9UKQ5	Silent	SNP	ENST00000310325.5	37	c.2436A>T	CCDS8144.1																																																																																				PASS	0.567	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		18	122	18	122	---	---	---	---
IGHMBP2	3508	broad.mit.edu	37	11	68696686	68696686	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr11:68696686G>T	ENST00000255078.3	+	8	1207	c.1096G>T	c.(1096-1098)Gag>Tag	p.E366*		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	366	Leu-rich.				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.E366*(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)			GTTGCTGCCCGAGAGCTACTT	0.652																																						uc001ook.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1096-1098)GAG>TAG		immunoglobulin mu binding protein 2							109.0	104.0	106.0					11																	68696686		2200	4294	6494	SO:0001587	stop_gained	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.chr11:68696686G>T	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.1096G>T	11.37:g.68696686G>T	ENSP00000255078:p.Glu366*					IGHMBP2_uc001ooj.1_RNA|IGHMBP2_uc001ool.1_5'Flank	p.E366*	NM_002180	NP_002171	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		8	1198	+			366			Leu-rich.		A0PJD2|Q00443|Q14177	Nonsense_Mutation	SNP	ENST00000255078.3	37	c.1096G>T	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621891	0.87460	.	.	ENSG00000132740	ENST00000255078	.	.	.	4.98	4.08	0.47627	.	0.378221	0.26761	N	0.022627	.	.	.	.	.	.	0.33326	D	0.567942	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-20.4725	12.5267	0.56089	0.0822:0.0:0.9178:0.0	.	.	.	.	X	366	.	ENSP00000255078:E366X	E	+	1	0	IGHMBP2	68453262	0.994000	0.37717	0.098000	0.21074	0.132000	0.20833	4.014000	0.57145	1.111000	0.41721	-0.119000	0.15052	GAG		PASS	0.652	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		25	46	25	46	---	---	---	---
TENM4	26011	broad.mit.edu	37	11	78381535	78381535	+	Missense_Mutation	SNP	C	C	A	rs140341040	byFrequency	TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr11:78381535C>A	ENST00000278550.7	-	32	6317	c.5855G>T	c.(5854-5856)cGc>cTc	p.R1952L		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1952					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.R1952H(2)|p.R1952L(2)									AGAAGAGAGGCGGTCATTCTT	0.542																																						uc001ozl.3																			4	Substitution - Missense(4)		large_intestine(2)|lung(2)	ovary(2)|pancreas(2)	4						c.(5854-5856)CGC>CTC		odz, odd Oz/ten-m homolog 4							72.0	75.0	74.0					11																	78381535		1997	4159	6156	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78381535C>A	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.5855G>T	11.37:g.78381535C>A	ENSP00000278550:p.Arg1952Leu					ODZ4_uc001ozk.3_Missense_Mutation_p.R177L|ODZ4_uc009yvb.1_Missense_Mutation_p.R536L	p.R1952L	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			32	6318	-			1952			YD 7.|Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.5855G>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949544	0.53186	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90385	-2.66;0.73	4.93	3.08	0.35506	.	0.112900	0.64402	D	0.000008	D	0.94000	0.8078	M	0.75447	2.3	0.58432	D	0.999999	D	0.69078	0.997	D	0.76071	0.987	D	0.93007	0.6428	9	.	.	.	.	11.7033	0.51583	0.0:0.8566:0.0:0.1434	.	1952	Q6N022	TEN4_HUMAN	L	1952;416	ENSP00000278550:R1952L;ENSP00000431711:R416L	.	R	-	2	0	ODZ4	78059183	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	3.125000	0.50469	0.802000	0.34089	-0.126000	0.14955	CGC		PASS	0.542	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			12	34	12	34	---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82879675	82879675	+	Silent	SNP	G	G	A	rs368877028	byFrequency	TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr11:82879675G>A	ENST00000298281.4	+	8	2750	c.2298G>A	c.(2296-2298)acG>acA	p.T766T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	766	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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 factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.T766T(2)|p.T865T(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATGGCCCAACGAAGATGATTT	0.488													G|||	24	0.00479233	0.0	0.0	5008	,	,		18530	0.0		0.0	False		,,,				2504	0.0245					uc001ozx.3																			3	Substitution - coding silent(3)		lung(2)|large_intestine(1)	ovary(1)	1						c.(2296-2298)ACG>ACA		pre-mRNA cleavage complex II protein Pcf11		G		4,3776		0,4,1886	104.0	102.0	102.0		2298	2.8	1.0	11		102	0,8232		0,0,4116	no	coding-synonymous	PCF11	NM_015885.3		0,4,6002	AA,AG,GG		0.0,0.1058,0.0333		766/1556	82879675	4,12008	1890	4116	6006	SO:0001819	synonymous_variant	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82879675G>A	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2298G>A	11.37:g.82879675G>A						PCF11_uc010rsu.1_Silent_p.T897T	p.T766T	NM_015885	NP_056969	O94913	PCF11_HUMAN			8	2643	+			766			Gly-rich.		A6H8W7|O43671|Q6P0X8	Silent	SNP	ENST00000298281.4	37	c.2298G>A	CCDS44689.1																																																																																				PASS	0.488	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		12	41	12	41	---	---	---	---
MTNR1B	4544	broad.mit.edu	37	11	92714750	92714750	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr11:92714750G>T	ENST00000257068.2	+	2	367	c.361G>T	c.(361-363)Ggc>Tgc	p.G121C		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	121					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.G121C(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)	CTTTGTGATGGGCCTGAGCGT	0.597																																						uc001pdk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(361-363)GGC>TGC		melatonin receptor 1B	Ramelteon(DB00980)						146.0	132.0	137.0					11																	92714750		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.chr11:92714750G>T	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.361G>T	11.37:g.92714750G>T	ENSP00000257068:p.Gly121Cys						p.G121C	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	464	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	121			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000257068.2	37	c.361G>T	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203214	0.79127	.	.	ENSG00000134640	ENST00000257068	T	0.71817	-0.6	3.97	3.97	0.46021	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84986	0.5594	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86510	0.1809	10	0.44086	T	0.13	-30.6934	16.6059	0.84828	0.0:0.0:1.0:0.0	.	121	P49286	MTR1B_HUMAN	C	121	ENSP00000257068:G121C	ENSP00000257068:G121C	G	+	1	0	MTNR1B	92354398	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.550000	0.73905	2.220000	0.72140	0.491000	0.48974	GGC		PASS	0.597	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			22	66	22	66	---	---	---	---
ANKK1	255239	broad.mit.edu	37	11	113266902	113266902	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr11:113266902C>T	ENST00000303941.3	+	5	890	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R266C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CCTGATGAAACGCTGCTGGGA	0.622																																						uc001pny.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|stomach(1)|ovary(1)|breast(1)	8						c.(796-798)CGC>TGC		ankyrin repeat and kinase domain containing 1							86.0	92.0	90.0					11																	113266902		2001	4160	6161	SO:0001583	missense	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113266902C>T	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.796C>T	11.37:g.113266902C>T	ENSP00000306678:p.Arg266Cys						p.R266C	NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	5	890	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	266			Protein kinase.			Missense_Mutation	SNP	ENST00000303941.3	37	c.796C>T	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	C	5.848	0.340691	0.11069	.	.	ENSG00000170209	ENST00000303941	D	0.83419	-1.72	4.44	0.433	0.16534	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.291435	0.20217	N	0.096763	T	0.76933	0.4057	M	0.64080	1.96	0.36506	D	0.869317	B	0.21309	0.054	B	0.22386	0.039	T	0.70241	-0.4926	10	0.87932	D	0	-12.0926	5.8204	0.18524	0.1955:0.5895:0.0:0.215	.	266	Q8NFD2	ANKK1_HUMAN	C	266	ENSP00000306678:R266C	ENSP00000306678:R266C	R	+	1	0	ANKK1	112772112	0.213000	0.23551	0.020000	0.16555	0.003000	0.03518	-0.181000	0.09740	-0.084000	0.12595	-1.836000	0.00589	CGC		PASS	0.622	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		11	61	11	61	---	---	---	---
BLID	414899	broad.mit.edu	37	11	121986551	121986551	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr11:121986551C>T	ENST00000560104.1	-	1	372	c.80G>A	c.(79-81)gGa>gAa	p.G27E		NM_001001786.2	NP_001001786.2	Q8IZY5	BLID_HUMAN	BH3-like motif containing, cell death inducer	27					apoptotic process (GO:0006915)	mitochondrion (GO:0005739)		p.G27E(1)		NS(1)|large_intestine(4)|lung(6)|pancreas(1)	12		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		CTCTATCCATCCTGTGTAGAG	0.468											OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pyf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(79-81)GGA>GAA		BRCC2 protein							63.0	62.0	63.0					11																	121986551		2202	4299	6501	SO:0001583	missense	414899				apoptosis	mitochondrion		g.chr11:121986551C>T	AF303179	CCDS31693.1	11q24.1	2007-06-22				ENSG00000259571			33495	protein-coding gene	gene with protein product	"""breast cancer cell 2"""	608853				15069058, 17220890	Standard	NM_001001786		Approved	BRCC2	uc001pyf.3	Q8IZY5		ENST00000560104.1:c.80G>A	11.37:g.121986551C>T	ENSP00000453153:p.Gly27Glu		OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1515	LOC399959_uc009zba.2_Intron	p.G27E	NM_001001786	NP_001001786	Q8IZY5	BLID_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)	1	373	-		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	27					A1L416	Missense_Mutation	SNP	ENST00000560104.1	37	c.80G>A	CCDS31693.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298832	0.23650	.	.	ENSG00000258606;ENSG00000258574	ENST00000553434;ENST00000556841	.	.	.	4.01	-4.02	0.04034	.	.	.	.	.	T	0.15435	0.0372	N	0.08118	0	0.09310	N	1	B	0.29508	0.246	B	0.26416	0.069	T	0.22836	-1.0205	8	0.87932	D	0	.	5.7542	0.18164	0.3494:0.4446:0.206:0.0	.	27	Q8IZY5	BLID_HUMAN	E	27	.	ENSP00000448995:G27E	G	-	2	0	BLID;AP001924.1	121491761	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.483000	0.06536	-0.557000	0.06126	-0.340000	0.08031	GGA		PASS	0.468	BLID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387656.1	NM_001001786		22	35	22	35	---	---	---	---
BSX	390259	broad.mit.edu	37	11	122852332	122852332	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr11:122852332C>A	ENST00000343035.2	-	1	96	c.48G>T	c.(46-48)agG>agT	p.R16S		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	16					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R16S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		AGGATGTGGGCCTCTGAGAAG	0.607																																						uc010rzs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(46-48)AGG>AGT		brain specific homeobox							38.0	44.0	42.0					11																	122852332		2029	4188	6217	SO:0001583	missense	390259							g.chr11:122852332C>A		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.48G>T	11.37:g.122852332C>A	ENSP00000344285:p.Arg16Ser						p.R16S	NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	1	48	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	16						Missense_Mutation	SNP	ENST00000343035.2	37	c.48G>T	CCDS41728.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948736	0.34377	.	.	ENSG00000188909	ENST00000343035	D	0.93247	-3.19	4.79	3.88	0.44766	.	0.000000	0.85682	D	0.000000	D	0.84750	0.5541	L	0.29908	0.895	0.49915	D	0.999839	P	0.43750	0.816	B	0.34180	0.177	T	0.82709	-0.0323	10	0.56958	D	0.05	.	5.115	0.14829	0.0:0.6468:0.1717:0.1815	.	16	Q3C1V8	BSH_HUMAN	S	16	ENSP00000344285:R16S	ENSP00000344285:R16S	R	-	3	2	BSX	122357542	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.945000	0.29056	1.239000	0.43787	-0.150000	0.13652	AGG		PASS	0.607	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		4	7	4	7	---	---	---	---
ESAM	90952	broad.mit.edu	37	11	124626148	124626148	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr11:124626148C>A	ENST00000278927.5	-	4	691	c.562G>T	c.(562-564)Gat>Tat	p.D188Y	ESAM_ENST00000442070.2_Intron|RP11-677M14.3_ENST00000504932.2_RNA	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	188	Ig-like C2-type.				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.D188Y(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)		AGCTGCCGATCCCACTGGTAT	0.572																																						uc001qav.3																			1	Substitution - Missense(1)		lung(1)		0						c.(562-564)GAT>TAT		endothelial cell adhesion molecule precursor							59.0	52.0	54.0					11																	124626148		2201	4299	6500	SO:0001583	missense	90952				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction		g.chr11:124626148C>A	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.562G>T	11.37:g.124626148C>A	ENSP00000278927:p.Asp188Tyr					ESAM_uc010sao.1_Intron|ESAM_uc001qau.3_Missense_Mutation_p.D115Y|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Missense_Mutation_p.D188Y	p.D188Y	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)	4	735	-	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)	188			Extracellular (Potential).|Ig-like C2-type.		B4DVN8|Q96T50	Missense_Mutation	SNP	ENST00000278927.5	37	c.562G>T	CCDS8453.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932121	0.52866	.	.	ENSG00000149564	ENST00000278927;ENST00000435477	T;T	0.10099	2.91;2.91	5.34	3.47	0.39725	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.608531	0.18369	N	0.143303	T	0.04407	0.0121	N	0.00966	-1.09	0.80722	D	1	P;P;D	0.58970	0.943;0.761;0.984	P;B;P	0.54174	0.532;0.366;0.744	T	0.46119	-0.9214	10	0.02654	T	1	.	5.5776	0.17233	0.0:0.6591:0.1635:0.1773	.	188;188;61	F8WDW9;Q96AP7;C9JIE7	.;ESAM_HUMAN;.	Y	188;61	ENSP00000278927:D188Y;ENSP00000415893:D61Y	ENSP00000278927:D188Y	D	-	1	0	ESAM	124131358	0.342000	0.24809	0.898000	0.35279	0.800000	0.45204	0.375000	0.20518	0.633000	0.30452	0.561000	0.74099	GAT		PASS	0.572	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324686.1	NM_138961		7	12	7	12	---	---	---	---
CLECL1	160365	broad.mit.edu	37	12	9885563	9885563	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr12:9885563A>C	ENST00000327839.3	-	1	332	c.298T>G	c.(298-300)Ttt>Gtt	p.F100V		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.F100V(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						TGAAGTGGAAACGCGAGTTCT	0.398																																						uc001qwj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)TTT>GTT		type II transmembrane protein DCAL1							63.0	67.0	65.0					12																	9885563		2203	4300	6503	SO:0001583	missense	160365					integral to membrane|plasma membrane	sugar binding	g.chr12:9885563A>C	AF518873	CCDS8603.1, CCDS73441.1	12p13.31	2007-06-21				ENSG00000184293			24462	protein-coding gene	gene with protein product	"""dendritic cell associated lectin 1"""	607467				12421943	Standard	NM_172004		Approved	DCAL1	uc001qwi.3	Q8IZS7		ENST00000327839.3:c.298T>G	12.37:g.9885563A>C	ENSP00000331766:p.Phe100Val						p.F100V	NM_172004	NP_742001	Q8IZS7	CLCL1_HUMAN			1	298	-			100			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000327839.3	37	c.298T>G	CCDS8603.1	.	.	.	.	.	.	.	.	.	.	A	1.126	-0.653960	0.03480	.	.	ENSG00000184293	ENST00000327839	T	0.42131	0.98	1.99	-0.437	0.12272	.	.	.	.	.	T	0.17746	0.0426	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24012	-1.0172	8	.	.	.	.	4.2488	0.10684	0.6199:0.0:0.3801:0.0	.	100	Q8IZS7	CLCL1_HUMAN	V	100	ENSP00000331766:F100V	.	F	-	1	0	CLECL1	9776830	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.236000	0.17967	-0.123000	0.11745	0.523000	0.50628	TTT		PASS	0.398	CLECL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399815.1	NM_172004		14	85	14	85	---	---	---	---
TAS2R9	50835	broad.mit.edu	37	12	10962127	10962127	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr12:10962127A>T	ENST00000240691.2	-	1	640	c.548T>A	c.(547-549)cTg>cAg	p.L183Q	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	183					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)	p.L183Q(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCCCAGGTTCAGGGTTAACTG	0.393																																						uc001qyx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(547-549)CTG>CAG		taste receptor, type 2, member 9							73.0	73.0	73.0					12																	10962127		2202	4300	6502	SO:0001583	missense	50835				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10962127A>T	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.548T>A	12.37:g.10962127A>T	ENSP00000240691:p.Leu183Gln					TAS2R8_uc010shh.1_5'Flank	p.L183Q	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN			1	641	-			183			Helical; Name=5; (Potential).		Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	c.548T>A	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.355868	0.41700	.	.	ENSG00000121381	ENST00000240691	T	0.39056	1.1	4.31	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.453517	0.14929	U	0.290214	T	0.65719	0.2718	M	0.91510	3.215	0.09310	N	1	D	0.64830	0.994	D	0.69654	0.965	T	0.55891	-0.8069	10	0.66056	D	0.02	.	5.6587	0.17656	0.8624:0.0:0.1376:0.0	.	183	Q9NYW1	TA2R9_HUMAN	Q	183	ENSP00000240691:L183Q	ENSP00000240691:L183Q	L	-	2	0	TAS2R9	10853394	0.000000	0.05858	0.003000	0.11579	0.035000	0.12851	0.060000	0.14342	0.783000	0.33636	0.528000	0.53228	CTG		PASS	0.393	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			90	51	90	51	---	---	---	---
APOLD1	81575	broad.mit.edu	37	12	12940477	12940477	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr12:12940477T>C	ENST00000326765.6	+	2	801	c.731T>C	c.(730-732)cTg>cCg	p.L244P	APOLD1_ENST00000356591.4_Missense_Mutation_p.L213P	NM_001130415.1	NP_001123887.1	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	244					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|endothelial cell activation (GO:0042118)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|regulation of endothelial cell differentiation (GO:0045601)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.L213P(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		ACCGGGGCTCTGGACGAACTC	0.637																																						uc001rau.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(730-732)CTG>CCG		apolipoprotein L domain containing 1 isoform 1							36.0	44.0	41.0					12																	12940477		2202	4296	6498	SO:0001583	missense	81575				angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process	extracellular region|integral to membrane|plasma membrane	lipid binding	g.chr12:12940477T>C	AL136783	CCDS8654.1, CCDS44833.1	12p13.2	2006-02-03	2006-01-23		ENSG00000178878	ENSG00000178878			25268	protein-coding gene	gene with protein product		612456				11230166	Standard	NM_030817		Approved	FLJ25138, DKFZP434F0318	uc001rau.4	Q96LR9	OTTHUMG00000153561	ENST00000326765.6:c.731T>C	12.37:g.12940477T>C	ENSP00000324277:p.Leu244Pro					DDX47_uc001rav.2_Intron|APOLD1_uc001raw.3_Missense_Mutation_p.L213P	p.L244P	NM_001130415	NP_001123887	Q96LR9	APLD1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)	2	815	+		Prostate(47;0.0632)	244			Potential.		Q8IVR2|Q9H0I5	Missense_Mutation	SNP	ENST00000326765.6	37	c.731T>C	CCDS44833.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.919565	0.73098	.	.	ENSG00000178878	ENST00000326765;ENST00000356591	T;T	0.50813	0.77;0.73	5.56	5.56	0.83823	.	0.265954	0.29009	U	0.013438	T	0.56673	0.2001	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.66196	0.897;0.942	T	0.61053	-0.7140	10	0.87932	D	0	-8.5994	15.771	0.78167	0.0:0.0:0.0:1.0	.	213;244	A0AVN6;Q96LR9	.;APLD1_HUMAN	P	244;213	ENSP00000324277:L244P;ENSP00000348998:L213P	ENSP00000324277:L244P	L	+	2	0	APOLD1	12831744	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.392000	0.52537	2.123000	0.65237	0.472000	0.43445	CTG		PASS	0.637	APOLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331627.1	NM_030817		74	37	74	37	---	---	---	---
HOXC10	3226	broad.mit.edu	37	12	54383205	54383205	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr12:54383205T>C	ENST00000303460.4	+	2	1078	c.1004T>C	c.(1003-1005)cTg>cCg	p.L335P	MIR196A2_ENST00000385189.1_RNA|HOXC10_ENST00000511575.1_3'UTR|RP11-834C11.12_ENST00000513209.1_Intron	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	335					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.L335P(1)		endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						ATCCGGGAACTGACCTCCAAT	0.488											OREG0021882	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sen.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1003-1005)CTG>CCG		homeobox C10							46.0	41.0	43.0					12																	54383205		2203	4300	6503	SO:0001583	missense	3226				positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54383205T>C		CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.1004T>C	12.37:g.54383205T>C	ENSP00000307321:p.Leu335Pro		OREG0021882	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	999	uc001seo.2_5'Flank|MIR196A2_hsa-mir-196a-2|MI0000279_5'Flank	p.L335P	NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN			2	1102	+			335					O15219|O15220|Q9BVD5	Missense_Mutation	SNP	ENST00000303460.4	37	c.1004T>C	CCDS8868.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.618240	0.46736	.	.	ENSG00000180818	ENST00000303460	D	0.93859	-3.3	3.44	3.44	0.39384	.	0.000000	0.64402	D	0.000005	D	0.91164	0.7217	M	0.64630	1.985	0.80722	D	1	B	0.26876	0.162	B	0.27076	0.076	D	0.90430	0.4423	10	0.87932	D	0	.	11.5789	0.50879	0.0:0.0:0.0:1.0	.	335	Q9NYD6	HXC10_HUMAN	P	335	ENSP00000307321:L335P	ENSP00000307321:L335P	L	+	2	0	HOXC10	52669472	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.598000	0.67585	1.520000	0.48965	0.379000	0.24179	CTG		PASS	0.488	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2			8	13	8	13	---	---	---	---
R3HDM2	22864	broad.mit.edu	37	12	57663634	57663634	+	Silent	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr12:57663634C>T	ENST00000347140.3	-	15	1836	c.1446G>A	c.(1444-1446)acG>acA	p.T482T	R3HDM2_ENST00000358907.2_Silent_p.T482T|R3HDM2_ENST00000413953.2_Silent_p.T209T|R3HDM2_ENST00000546843.1_5'Flank|R3HDM2_ENST00000441731.2_Silent_p.T177T|R3HDM2_ENST00000403821.2_Silent_p.T516T|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000402412.1_Silent_p.T496T			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	482	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T482T(2)|p.T143T(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GGGGCTGACCCGTGGAAGCCA	0.572																																						uc009zpm.1																			4	Substitution - coding silent(4)		lung(4)	ovary(2)	2						c.(1444-1446)ACG>ACA		R3H domain containing 2							117.0	103.0	108.0					12																	57663634		2203	4300	6503	SO:0001819	synonymous_variant	22864					nucleus	nucleic acid binding	g.chr12:57663634C>T	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1446G>A	12.37:g.57663634C>T						R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Silent_p.T177T|R3HDM2_uc001snr.2_Silent_p.T209T|R3HDM2_uc001sns.2_Silent_p.T482T|R3HDM2_uc001snt.2_Silent_p.T496T|R3HDM2_uc009zpn.1_Silent_p.T105T	p.T482T	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN			13	1481	-			482			Gln-rich.		Q2M1T9|Q3ZCT5	Silent	SNP	ENST00000347140.3	37	c.1446G>A	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968369	0.34754	.	.	ENSG00000179912	ENST00000466401	.	.	.	5.21	-6.83	0.01693	.	.	.	.	.	T	0.60196	0.2250	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63812	-0.6552	4	.	.	.	-0.2457	14.0411	0.64676	0.0:0.7138:0.1098:0.1764	.	.	.	.	Q	80	.	.	R	-	2	0	R3HDM2	55949901	0.090000	0.21635	0.768000	0.31515	0.992000	0.81027	-0.779000	0.04659	-1.253000	0.02488	0.650000	0.86243	CGG		PASS	0.572	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		24	41	24	41	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57864776	57864776	+	Silent	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr12:57864776G>T	ENST00000228682.2	+	12	2344	c.2253G>T	c.(2251-2253)ctG>ctT	p.L751L	GLI1_ENST00000546141.1_Silent_p.L710L|GLI1_ENST00000543426.1_Silent_p.L623L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	751					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.L751L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CAGGCTCTCTGCCTCTTGGGC	0.592																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(2251-2253)CTG>CTT		GLI family zinc finger 1 isoform 1							68.0	68.0	68.0					12																	57864776		2203	4300	6503	SO:0001819	synonymous_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57864776G>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2253G>T	12.37:g.57864776G>T						GLI1_uc009zpq.2_Silent_p.L623L	p.L751L	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	2331	+			751					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	ENST00000228682.2	37	c.2253G>T	CCDS8940.1																																																																																				PASS	0.592	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		37	49	37	49	---	---	---	---
WIF1	11197	broad.mit.edu	37	12	65461562	65461563	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr12:65461562_65461563GG>TT	ENST00000286574.4	-	5	920_921	c.546_547CC>AA	c.(544-549)tgCCca>tgAAca	p.182_183CP>*T		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	182	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.C182_P183>*(2)|p.C182*(2)|p.P183T(2)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CACCCGCCTGGGCACTCAGCTT	0.485			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	uc001ssk.2				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		6	Substitution - Missense(2)|Substitution - Nonsense(2)|Complex - deletion inframe(2)		lung(6)	ovary(2)|lung(1)|skin(1)	4						c.(547-549)CCA>ACA|c.(544-546)TGC>TGA		WNT inhibitory factor 1 precursor																																				SO:0001587	stop_gained	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65461562G>T|g.chr12:65461563G>T	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.546_547delinsTT	12.37:g.65461562_65461563delinsTT	ENSP00000286574:p.C182_P183delins*T						p.P183T|p.C182*	NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	5	692|691	-			183|182			EGF-like 1.		Q6UXI1|Q8WVG4	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000286574.4	37	c.547C>A|c.546C>A	CCDS8971.1																																																																																				PASS	0.485	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			11|12	17	11	17	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400650	78400650	+	Silent	SNP	T	T	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr12:78400650T>A	ENST00000397909.2	+	8	1505	c.1332T>A	c.(1330-1332)ccT>ccA	p.P444P	NAV3_ENST00000266692.7_Silent_p.P444P|NAV3_ENST00000536525.2_Silent_p.P444P|NAV3_ENST00000228327.6_Silent_p.P444P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	444						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.P444P(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAGTGTCACCTAAGTTGGCCC	0.408										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(1330-1332)CCT>CCA		neuron navigator 3							94.0	90.0	91.0					12																	78400650		1875	4109	5984	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400650T>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1332T>A	12.37:g.78400650T>A		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.P444P	p.P444P	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1505	+			444					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.1332T>A																																																																																					PASS	0.408	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		23	74	23	74	---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85450481	85450481	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr12:85450481C>A	ENST00000393217.2	+	8	1971	c.1910C>A	c.(1909-1911)tCa>tAa	p.S637*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	637								p.S637*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAATTTATTCAAAATCCAAA	0.299																																						uc001tac.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1909-1911)TCA>TAA		leucine-rich repeats and IQ motif containing 1							40.0	42.0	41.0					12																	85450481		2202	4296	6498	SO:0001587	stop_gained	84125							g.chr12:85450481C>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1910C>A	12.37:g.85450481C>A	ENSP00000376910:p.Ser637*					LRRIQ1_uc001tab.1_Nonsense_Mutation_p.S637*|LRRIQ1_uc001taa.1_Nonsense_Mutation_p.S612*	p.S637*	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	2021	+			637					Q567P4|Q9BS17|Q9HA36	Nonsense_Mutation	SNP	ENST00000393217.2	37	c.1910C>A	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998596	0.93227	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	.	.	.	5.16	1.14	0.20703	.	0.679616	0.12135	N	0.496399	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	2.3946	0.04386	0.36:0.2665:0.0:0.3735	.	.	.	.	X	637;612;637	.	ENSP00000256007:S637X	S	+	2	0	LRRIQ1	83974612	0.091000	0.21658	0.023000	0.16930	0.008000	0.06430	0.179000	0.16840	0.901000	0.36495	-0.423000	0.05987	TCA		PASS	0.299	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		13	22	13	22	---	---	---	---
LUM	4060	broad.mit.edu	37	12	91498030	91498030	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr12:91498030C>A	ENST00000266718.4	-	3	1383	c.929G>T	c.(928-930)cGt>cTt	p.R310L	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	310					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.R310L(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GCCATCCAAACGCAAATGCTT	0.373																																						uc001tbm.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(928-930)CGT>CTT		lumican precursor							105.0	100.0	102.0					12																	91498030		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91498030C>A	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.929G>T	12.37:g.91498030C>A	ENSP00000266718:p.Arg310Leu					LUM_uc001tbn.2_RNA	p.R310L	NM_002345	NP_002336	P51884	LUM_HUMAN			3	1318	-			310			LRR 11.		B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.929G>T	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804628	0.90623	.	.	ENSG00000139329	ENST00000266718	T	0.18016	2.24	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.49244	-0.8960	10	0.87932	D	0	-18.0187	18.3106	0.90199	0.0:1.0:0.0:0.0	.	310	P51884	LUM_HUMAN	L	310	ENSP00000266718:R310L	ENSP00000266718:R310L	R	-	2	0	LUM	90022161	1.000000	0.71417	0.980000	0.43619	0.790000	0.44656	7.146000	0.77373	2.398000	0.81561	0.591000	0.81541	CGT		PASS	0.373	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		9	36	9	36	---	---	---	---
PLXNC1	10154	broad.mit.edu	37	12	94618035	94618035	+	Silent	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr12:94618035C>T	ENST00000258526.4	+	7	1983	c.1734C>T	c.(1732-1734)ttC>ttT	p.F578F		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	578					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.F578F(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						TGTTCTCCTTCGGTTCTTGGA	0.373																																						uc001tdc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1732-1734)TTC>TTT		plexin C1 precursor							213.0	189.0	197.0					12																	94618035		2203	4300	6503	SO:0001819	synonymous_variant	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94618035C>T	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.1734C>T	12.37:g.94618035C>T							p.F578F	NM_005761	NP_005752	O60486	PLXC1_HUMAN			7	1983	+			578			Extracellular (Potential).		Q59H25	Silent	SNP	ENST00000258526.4	37	c.1734C>T	CCDS9049.1																																																																																				PASS	0.373	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			13	118	13	118	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124335548	124335548	+	Silent	SNP	T	T	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr12:124335548T>A	ENST00000409039.3	+	34	5887	c.5862T>A	c.(5860-5862)ccT>ccA	p.P1954P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1954	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P546P(1)|p.P1954P(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGTTCAGGCCTGTGGTCGTGA	0.632																																						uc001uft.3																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(5860-5862)CCT>CCA		dynein, axonemal, heavy chain 10							42.0	47.0	45.0					12																	124335548		2142	4279	6421	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124335548T>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5862T>A	12.37:g.124335548T>A							p.P1954P	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	34	5887	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1954			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.5862T>A	CCDS9255.2																																																																																				PASS	0.632	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			3	51	3	51	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20012252	20012252	+	Missense_Mutation	SNP	C	C	T	rs140738972		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr13:20012252C>T	ENST00000400230.2	-	14	1059	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	TPTE2_ENST00000255310.6_Missense_Mutation_p.E262K|TPTE2_ENST00000382975.4_Missense_Mutation_p.E299K|TPTE2_ENST00000382978.1_Missense_Mutation_p.E299K|TPTE2_ENST00000400103.2_Missense_Mutation_p.E228K|TPTE2_ENST00000390680.2_Missense_Mutation_p.E262K|TPTE2_ENST00000457266.2_Missense_Mutation_p.E228K|TPTE2_ENST00000382977.4_Missense_Mutation_p.E339K			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	339	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E262K(5)|p.E339K(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAATATTTCGGAGGCAATA	0.368																																						uc001umd.2																			6	Substitution - Missense(6)		haematopoietic_and_lymphoid_tissue(3)|lung(2)|skin(1)		0						c.(1015-1017)GAA>AAA		TPTE and PTEN homologous inositol lipid		C	LYS/GLU,LYS/GLU,LYS/GLU	1,4405		0,1,2202	59.0	59.0	59.0		682,784,1015	1.5	0.0	13	dbSNP_134	59	0,8600		0,0,4300	no	missense,missense,missense	TPTE2	NM_001141968.1,NM_130785.3,NM_199254.2	56,56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	228/412,262/446,339/523	20012252	1,13005	2203	4300	6503	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20012252C>T	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1015G>A	13.37:g.20012252C>T	ENSP00000383089:p.Glu339Lys					TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.E228K|TPTE2_uc001ume.2_Missense_Mutation_p.E262K|TPTE2_uc009zzm.2_Missense_Mutation_p.E10K|TPTE2_uc010tcm.1_RNA|TPTE2_uc010tcl.1_Missense_Mutation_p.E10K	p.E339K	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	15	1226	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	339			Phosphatase tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.1015G>A	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	7.277	0.608263	0.14002	2.27E-4	0.0	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	2.41	1.52	0.23074	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.227351	0.42964	D	0.000636	T	0.80449	0.4625	L	0.37561	1.115	0.09310	N	1	P;P;D	0.53151	0.925;0.589;0.958	P;B;P	0.51055	0.455;0.068;0.657	T	0.70117	-0.4960	9	.	.	.	-7.5063	6.872	0.24125	0.0:0.6556:0.3444:0.0	.	228;262;339	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	K	299;228;339;262;262;339;299;228;339;208	ENSP00000372438:E299K;ENSP00000382974:E228K;ENSP00000383089:E339K;ENSP00000255310:E262K;ENSP00000375098:E262K;ENSP00000372437:E339K;ENSP00000372435:E299K;ENSP00000442218:E228K	.	E	-	1	0	TPTE2	18910252	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.023000	0.13533	0.540000	0.28808	0.461000	0.40582	GAA		PASS	0.368	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		19	20	19	20	---	---	---	---
SPG20	23111	broad.mit.edu	37	13	36909772	36909772	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr13:36909772G>C	ENST00000451493.1	-	2	413	c.196C>G	c.(196-198)Cac>Gac	p.H66D	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Missense_Mutation_p.H66D|SPG20_ENST00000438666.2_Missense_Mutation_p.H66D|SPG20_ENST00000355182.4_Missense_Mutation_p.H66D	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	66	MIT.				abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)	p.H66D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GGACCTGTGTGTTCAGACTCT	0.433																																						uc001uvn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(196-198)CAC>GAC		spartin							131.0	120.0	124.0					13																	36909772		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36909772G>C	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.196C>G	13.37:g.36909772G>C	ENSP00000414147:p.His66Asp					SPG20_uc010ten.1_Missense_Mutation_p.H66D|SPG20_uc001uvm.2_Missense_Mutation_p.H66D|SPG20_uc001uvo.2_Missense_Mutation_p.H66D|SPG20_uc001uvq.2_Missense_Mutation_p.H66D|SPG20_uc001uvp.2_Missense_Mutation_p.H66D	p.H66D	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	3	466	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	66			MIT.		O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.196C>G	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	G	6.113	0.389068	0.11581	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.88201	-2.35;-2.35;-2.35	5.72	2.68	0.31781	MIT (2);	0.286938	0.45867	D	0.000328	T	0.73567	0.3603	N	0.11427	0.14	0.09310	N	1	B;P;B	0.37985	0.374;0.613;0.374	B;B;B	0.35899	0.213;0.161;0.213	T	0.64896	-0.6299	10	0.35671	T	0.21	0.001	5.2827	0.15684	0.5448:0.0:0.4552:0.0	.	66;66;66	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	D	66	ENSP00000406061:H66D;ENSP00000347314:H66D;ENSP00000414147:H66D	ENSP00000347314:H66D	H	-	1	0	SPG20	35807772	0.396000	0.25262	0.009000	0.14445	0.209000	0.24338	2.012000	0.40932	0.789000	0.33779	0.650000	0.86243	CAC		PASS	0.433	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			33	35	33	35	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88329160	88329160	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr13:88329160A>T	ENST00000325089.6	+	2	1736	c.1517A>T	c.(1516-1518)aAc>aTc	p.N506I	SLITRK5_ENST00000400028.3_Missense_Mutation_p.N265I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	506					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.N506I(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)					CCGGTCCCAAACCTCCAGCTG	0.532																																						uc001vln.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(1516-1518)AAC>ATC		SLIT and NTRK-like family, member 5 precursor							70.0	74.0	73.0					13																	88329160		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329160A>T	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.1517A>T	13.37:g.88329160A>T	ENSP00000366283:p.Asn506Ile					SLITRK5_uc010tic.1_Missense_Mutation_p.N265I	p.N506I	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	1736	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		506			Extracellular (Potential).|LRR 11.		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1517A>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.511995	0.44660	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.60920	0.15;0.15	5.23	5.23	0.72850	.	0.051554	0.85682	D	0.000000	T	0.75845	0.3905	M	0.80746	2.51	0.47698	D	0.999499	D;D	0.76494	0.999;0.999	D;D	0.83275	0.992;0.996	T	0.78196	-0.2298	9	.	.	.	-20.4021	13.0649	0.59028	1.0:0.0:0.0:0.0	.	265;506	B4DSH5;O94991	.;SLIK5_HUMAN	I	506;265	ENSP00000366283:N506I;ENSP00000442244:N265I	.	N	+	2	0	SLITRK5	87127161	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	6.327000	0.72910	1.964000	0.57103	0.459000	0.35465	AAC		PASS	0.532	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			27	47	27	47	---	---	---	---
GPR180	160897	broad.mit.edu	37	13	95273375	95273375	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr13:95273375G>C	ENST00000376958.4	+	6	805	c.780G>C	c.(778-780)ttG>ttC	p.L260F		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	260					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L260F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ACTTACTTTTGAGTCTATGCA	0.393																																						uc001vly.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(778-780)TTG>TTC		G protein-coupled receptor 180 precursor							138.0	130.0	133.0					13																	95273375		2203	4300	6503	SO:0001583	missense	160897					integral to membrane		g.chr13:95273375G>C	AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"""intimal thickness related receptor"""	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.780G>C	13.37:g.95273375G>C	ENSP00000366157:p.Leu260Phe					GPR180_uc001vlz.2_Missense_Mutation_p.L159F|GPR180_uc010afi.2_Missense_Mutation_p.L21F	p.L260F	NM_180989	NP_851320	Q86V85	GP180_HUMAN			6	858	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		260			Helical; (Potential).		A8K1D5	Missense_Mutation	SNP	ENST00000376958.4	37	c.780G>C	CCDS9472.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323010	0.60634	.	.	ENSG00000152749	ENST00000376958	T	0.57907	0.37	5.81	4.09	0.47781	Rhodopsin-like GPCR transmembrane domain (1);	0.069489	0.64402	D	0.000017	T	0.63780	0.2540	L	0.60455	1.87	0.58432	D	0.999999	D	0.71674	0.998	D	0.72338	0.977	T	0.62224	-0.6899	10	0.51188	T	0.08	-7.6184	7.455	0.27261	0.1376:0.0:0.7276:0.1348	.	260	Q86V85	GP180_HUMAN	F	260	ENSP00000366157:L260F	ENSP00000366157:L260F	L	+	3	2	GPR180	94071376	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.185000	0.58330	0.802000	0.34089	-0.157000	0.13467	TTG		PASS	0.393	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3	NM_180989		6	62	6	62	---	---	---	---
LRP10	26020	broad.mit.edu	37	14	23342530	23342530	+	Silent	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr14:23342530C>T	ENST00000359591.4	+	3	781	c.90C>T	c.(88-90)gaC>gaT	p.D30D	LRP10_ENST00000546834.1_Silent_p.D30D	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	30	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.D30D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CTTGTGAGGACCCCCCAGCAG	0.612											OREG0022588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001whd.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(88-90)GAC>GAT		low density lipoprotein receptor-related protein							78.0	77.0	77.0					14																	23342530		2203	4300	6503	SO:0001819	synonymous_variant	26020				endocytosis	coated pit|integral to membrane		g.chr14:23342530C>T	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.90C>T	14.37:g.23342530C>T			OREG0022588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	763	LRP10_uc001whe.2_5'Flank	p.D30D	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	3	643	+	all_cancers(95;4.69e-05)		30			CUB 1.|Extracellular (Potential).		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Silent	SNP	ENST00000359591.4	37	c.90C>T	CCDS9578.1																																																																																				PASS	0.612	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			14	49	14	49	---	---	---	---
NOVA1	4857	broad.mit.edu	37	14	26917512	26917512	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr14:26917512C>A	ENST00000539517.2	-	5	1494	c.1177G>T	c.(1177-1179)Gct>Tct	p.A393S	NOVA1_ENST00000465357.2_Missense_Mutation_p.A369S|NOVA1_ENST00000267422.7_Missense_Mutation_p.A271S	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	396	Ala-rich.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A393S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TTGGTTGCAGCAGTAGCAGCA	0.512																																						uc001wpy.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5						c.(1177-1179)GCT>TCT		neuro-oncological ventral antigen 1 isoform 1							39.0	41.0	40.0					14																	26917512		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917512C>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.1177G>T	14.37:g.26917512C>A	ENSP00000438875:p.Ala393Ser					NOVA1_uc001wpz.2_Missense_Mutation_p.A369S|NOVA1_uc001wqa.2_Missense_Mutation_p.A271S	p.A393S	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1495	-			396			Ala-rich.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.1177G>T	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	C	9.680	1.148932	0.21288	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422	T;T;T	0.32023	1.51;1.47;1.48	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.23094	0.0558	L	0.29908	0.895	0.80722	D	1	B;B;P	0.35872	0.092;0.256;0.525	B;B;B	0.32289	0.027;0.068;0.143	T	0.04551	-1.0943	10	0.07990	T	0.79	-5.3327	20.3151	0.98650	0.0:1.0:0.0:0.0	.	396;369;393	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	S	369;393;271	ENSP00000447391:A369S;ENSP00000438875:A393S;ENSP00000267422:A271S	ENSP00000267422:A271S	A	-	1	0	NOVA1	25987352	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.809000	0.96659	0.467000	0.42956	GCT		PASS	0.512	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		3	19	3	19	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44975233	44975233	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr14:44975233G>A	ENST00000340446.4	-	1	1249	c.958C>T	c.(958-960)Cct>Tct	p.P320S	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	320	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.P320S(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)		TCTTCAGCAGGTGGAGGCTGA	0.507																																						uc001wvn.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(958-960)CCT>TCT		fibrous sheath CABYR binding protein							53.0	57.0	56.0					14																	44975233		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975233G>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.958C>T	14.37:g.44975233G>A	ENSP00000344579:p.Pro320Ser						p.P320S	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1267	-			320			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.958C>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	0.743	-0.775675	0.02951	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.17054	2.3	2.49	-2.03	0.07365	.	.	.	.	.	T	0.05181	0.0138	N	0.11560	0.145	0.09310	N	1	B	0.32573	0.376	B	0.28709	0.093	T	0.33163	-0.9879	9	0.09843	T	0.71	-0.2287	0.5827	0.00714	0.3744:0.152:0.2861:0.1875	.	320	Q5H9T9	FSCB_HUMAN	S	320	ENSP00000344579:P320S	ENSP00000344579:P320S	P	-	1	0	FSCB	44044983	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-2.522000	0.00950	-0.543000	0.06240	-0.677000	0.03784	CCT		PASS	0.507	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		13	45	13	45	---	---	---	---
KTN1	3895	broad.mit.edu	37	14	56139935	56139935	+	Missense_Mutation	SNP	T	T	C	rs537088531		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr14:56139935T>C	ENST00000395314.3	+	40	3801	c.3733T>C	c.(3733-3735)Tat>Cat	p.Y1245H	KTN1_ENST00000395309.3_Missense_Mutation_p.Y1245H|KTN1_ENST00000413890.2_Intron|KTN1_ENST00000395308.1_Intron|KTN1_ENST00000554507.1_Intron|KTN1_ENST00000438792.2_Intron|KTN1_ENST00000395311.1_Intron|KTN1_ENST00000416613.1_Missense_Mutation_p.Y1245H|KTN1_ENST00000555573.1_Intron	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1245					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.Y1245H(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TGATGATTCATATTCTGAAGC	0.368			T	RET	papillary thryoid								T|||	1	0.000199681	0.0008	0.0	5008	,	,		18574	0.0		0.0	False		,,,				2504	0.0					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.(3733-3735)TAT>CAT		kinectin 1 isoform a							85.0	83.0	84.0					14																	56139935		2203	4300	6503	SO:0001583	missense	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56139935T>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.3733T>C	14.37:g.56139935T>C	ENSP00000378725:p.Tyr1245His					KTN1_uc001xce.2_Intron|KTN1_uc001xcc.2_Missense_Mutation_p.Y1245H|KTN1_uc001xcd.2_Intron|KTN1_uc010trb.1_Intron|KTN1_uc001xcf.1_Intron|KTN1_uc010aoq.2_Intron|KTN1_uc010trc.1_Intron|KTN1_uc001xcg.2_Intron	p.Y1245H	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN			41	4035	+			1245			Lumenal (Potential).|Potential.		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.3733T>C	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.950355	0.73787	.	.	ENSG00000126777	ENST00000395309;ENST00000395314;ENST00000416613	T;T;T	0.31510	1.49;1.49;1.49	5.94	5.94	0.96194	.	0.122777	0.37136	N	0.002229	T	0.53206	0.1782	L	0.60455	1.87	0.48395	D	0.999644	D	0.89917	1.0	D	0.87578	0.998	T	0.52139	-0.8615	10	0.54805	T	0.06	-7.9877	16.3947	0.83586	0.0:0.0:0.0:1.0	.	1245	Q86UP2	KTN1_HUMAN	H	1245	ENSP00000378720:Y1245H;ENSP00000378725:Y1245H;ENSP00000388807:Y1245H	ENSP00000378720:Y1245H	Y	+	1	0	KTN1	55209688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.466000	0.80914	2.272000	0.75746	0.459000	0.35465	TAT		PASS	0.368	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			4	18	4	18	---	---	---	---
SERPINA3	12	broad.mit.edu	37	14	95081224	95081224	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr14:95081224T>A	ENST00000467132.1	+	2	1594	c.446T>A	c.(445-447)cTg>cAg	p.L149Q	SERPINA3_ENST00000482740.1_5'Flank|SERPINA3_ENST00000393080.4_Missense_Mutation_p.L149Q|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.L149Q			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	149					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L149Q(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CAACTCAGTCTGCTGGACAGG	0.547																																						uc001ydp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6						c.(445-447)CTG>CAG		serpin peptidase inhibitor, clade A, member 3							70.0	64.0	66.0					14																	95081224		2203	4300	6503	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95081224T>A	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.446T>A	14.37:g.95081224T>A	ENSP00000450540:p.Leu149Gln					SERPINA3_uc001ydo.3_Missense_Mutation_p.L174Q|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.L149Q|SERPINA3_uc001yds.2_Missense_Mutation_p.L149Q|SERPINA3_uc010avg.2_Missense_Mutation_p.L149Q	p.L149Q	NM_001085	NP_001076	P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	2	525	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	149					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.446T>A	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.033472	0.54896	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.13	5.13	0.70059	Serpin domain (3);	0.417459	0.19806	N	0.105659	D	0.95252	0.8460	H	0.97131	3.945	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.75484	0.986;0.958	D	0.89586	0.3824	10	0.87932	D	0	.	10.5417	0.45037	0.0:0.0792:0.0:0.9208	.	149;174	P01011;G3V5I3	AACT_HUMAN;.	Q	174;149;149;149;149	ENSP00000452367:L174Q;ENSP00000376793:L149Q;ENSP00000376795:L149Q;ENSP00000450540:L149Q	ENSP00000376793:L149Q	L	+	2	0	SERPINA3	94150977	0.000000	0.05858	0.055000	0.19348	0.011000	0.07611	0.373000	0.20484	2.046000	0.60703	0.459000	0.35465	CTG		PASS	0.547	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		9	29	9	29	---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25223391	25223391	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr15:25223391G>T	ENST00000400100.1	+	12	1501	c.611G>T	c.(610-612)gGg>gTg	p.G204V	SNRPN_ENST00000444203.2_Missense_Mutation_p.G208V|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400098.1_Missense_Mutation_p.G204V|SNRPN_ENST00000346403.6_Missense_Mutation_p.G204V|SNRPN_ENST00000400097.1_Missense_Mutation_p.G204V|SNRPN_ENST00000577565.1_Missense_Mutation_p.G204V|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000554227.2_Missense_Mutation_p.G208V|SNRPN_ENST00000390687.4_Missense_Mutation_p.G204V|SNHG14_ENST00000551631.2_RNA	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	204	Repeat-rich region.				response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)	p.G204V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CCACCAATTGGGCTTCCCCCT	0.537									Prader-Willi syndrome																													uc001ywp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(610-612)GGG>GTG		small nuclear ribonucleoprotein polypeptide N							110.0	111.0	111.0					15																	25223391		1879	4103	5982	SO:0001583	missense	6638	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25223391G>T	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.611G>T	15.37:g.25223391G>T	ENSP00000382972:p.Gly204Val					SNRPN_uc001ywq.1_Missense_Mutation_p.G204V|SNRPN_uc001ywr.1_Missense_Mutation_p.G204V|SNRPN_uc001yws.1_Missense_Mutation_p.G204V|SNRPN_uc001ywt.1_Missense_Mutation_p.G204V|SNRPN_uc001ywv.1_Missense_Mutation_p.G207V|SNRPN_uc001yww.1_Missense_Mutation_p.G204V|SNRPN_uc001ywx.1_Missense_Mutation_p.G204V|SNRPN_uc001ywz.1_RNA|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	p.G204V	NM_022807	NP_073718	P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	12	1501	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	204			Repeat-rich region.		B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	c.611G>T	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.314880	0.60524	.	.	ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000214265	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203;ENST00000346403	T;T;T;T;T;T	0.49139	0.83;0.83;0.83;0.79;0.83;0.79	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.67970	0.2950	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.73116	-0.4084	10	0.87932	D	0	-10.5258	14.0424	0.64684	0.0:0.0:1.0:0.0	.	208;204	B3KVR1;P63162	.;RSMN_HUMAN	V	204;204;204;208;204;208;63	ENSP00000382972:G204V;ENSP00000382970:G204V;ENSP00000382969:G204V;ENSP00000452342:G208V;ENSP00000375105:G204V;ENSP00000408767:G208V	ENSP00000306223:G63V	G	+	2	0	SNRPN;SNURF	22774484	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	8.391000	0.90177	2.435000	0.82474	0.591000	0.81541	GGG		PASS	0.537	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		17	75	17	75	---	---	---	---
GANC	2595	broad.mit.edu	37	15	42644329	42644329	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr15:42644329A>T	ENST00000318010.8	+	24	2977	c.2737A>T	c.(2737-2739)Atc>Ttc	p.I913F	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Intron	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	913					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.I913F(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GGAGGTCCGCATCATATGACA	0.493																																						uc001zpi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(2737-2739)ATC>TTC		glucosidase, alpha; neutral C							114.0	93.0	100.0					15																	42644329		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42644329A>T	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2737A>T	15.37:g.42644329A>T	ENSP00000326227:p.Ile913Phe					CAPN3_uc001zpk.1_Intron|CAPN3_uc001zpl.1_Intron|CAPN3_uc010udf.1_5'Flank|CAPN3_uc010udg.1_5'Flank	p.I913F	NM_198141	NP_937784	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	24	3051	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	913					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.2737A>T	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.394169	0.42410	.	.	ENSG00000214013	ENST00000318010	D	0.88431	-2.38	5.62	-0.618	0.11576	.	0.312482	0.37483	N	0.002070	T	0.79981	0.4540	L	0.45352	1.415	0.24938	N	0.991874	B	0.15473	0.013	B	0.18263	0.021	T	0.64563	-0.6378	10	0.33141	T	0.24	-4.2037	4.4652	0.11685	0.5462:0.0:0.314:0.1399	.	913	Q8TET4	GANC_HUMAN	F	913	ENSP00000326227:I913F	ENSP00000326227:I913F	I	+	1	0	GANC	40431621	0.000000	0.05858	0.020000	0.16555	0.272000	0.26649	-0.224000	0.09164	-0.059000	0.13154	-0.344000	0.07964	ATC		PASS	0.493	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		4	19	4	19	---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51839432	51839432	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr15:51839432C>A	ENST00000251076.5	-	7	1028	c.741G>T	c.(739-741)atG>atT	p.M247I	DMXL2_ENST00000543779.2_Missense_Mutation_p.M247I|DMXL2_ENST00000449909.3_Missense_Mutation_p.M247I|DMXL2_ENST00000560421.1_5'Flank	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	247						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.M247I(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTAACCTGGGCATATACTTGC	0.348																																						uc002abf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)	9						c.(739-741)ATG>ATT		Dmx-like 2							91.0	89.0	90.0					15																	51839432		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51839432C>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.741G>T	15.37:g.51839432C>A	ENSP00000251076:p.Met247Ile					DMXL2_uc010ufy.1_Missense_Mutation_p.M247I|DMXL2_uc010bfa.2_Missense_Mutation_p.M247I	p.M247I	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	7	966	-			247			WD 3.		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.741G>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833469	0.71258	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.28255	1.76;1.76;1.62	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63295	0.2499	M	0.87758	2.905	0.35340	D	0.786389	D;D;D	0.62365	0.991;0.969;0.976	P;D;D	0.72982	0.798;0.968;0.979	T	0.75508	-0.3293	10	0.87932	D	0	.	19.3281	0.94270	0.0:1.0:0.0:0.0	.	247;247;247	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	I	247	ENSP00000251076:M247I;ENSP00000441858:M247I;ENSP00000400855:M247I	ENSP00000251076:M247I	M	-	3	0	DMXL2	49626724	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.487000	0.81328	2.588000	0.87417	0.585000	0.79938	ATG		PASS	0.348	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		5	33	5	33	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	54025310	54025310	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr15:54025310G>C	ENST00000396328.1	-	2	276	c.37C>G	c.(37-39)Cag>Gag	p.Q13E	WDR72_ENST00000559418.1_Missense_Mutation_p.Q13E|WDR72_ENST00000557913.1_Missense_Mutation_p.Q13E|WDR72_ENST00000360509.5_Missense_Mutation_p.Q13E	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	13								p.Q13E(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GGGGCCTTCTGTCCCCAGAGT	0.498																																						uc002acj.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(37-39)CAG>GAG		WD repeat domain 72							96.0	84.0	88.0					15																	54025310		2194	4293	6487	SO:0001583	missense	256764							g.chr15:54025310G>C	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.37C>G	15.37:g.54025310G>C	ENSP00000379619:p.Gln13Glu					WDR72_uc010bfi.1_Missense_Mutation_p.Q13E	p.Q13E	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	2	79	-			13					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.37C>G	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	8.444	0.851578	0.17034	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.34275	1.37;1.37	4.66	2.36	0.29203	WD40-repeat-containing domain (1);	0.807969	0.11293	N	0.579055	T	0.18215	0.0437	N	0.12182	0.205	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.27123	-1.0083	10	0.22109	T	0.4	.	5.887	0.18886	0.0:0.0924:0.1778:0.7298	.	13	Q3MJ13	WDR72_HUMAN	E	13	ENSP00000379619:Q13E;ENSP00000353699:Q13E	ENSP00000353699:Q13E	Q	-	1	0	WDR72	51812602	0.007000	0.16637	0.026000	0.17262	0.775000	0.43874	1.250000	0.32850	0.402000	0.25451	-0.262000	0.10625	CAG		PASS	0.498	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		11	44	11	44	---	---	---	---
CCPG1	9236	broad.mit.edu	37	15	55669237	55669237	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr15:55669237C>T	ENST00000310958.6	-	5	662	c.364G>A	c.(364-366)Gtt>Att	p.V122I	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Missense_Mutation_p.V122I|CCPG1_ENST00000569205.1_Missense_Mutation_p.V122I|CCPG1_ENST00000442196.3_Missense_Mutation_p.V122I	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	122	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.V122I(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)		ACAATGACAACTTCTTGATTT	0.398																																						uc002acv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(364-366)GTT>ATT		cell cycle progression 1 isoform 2							133.0	123.0	126.0					15																	55669237		1837	4090	5927	SO:0001583	missense	9236				cell cycle	integral to membrane		g.chr15:55669237C>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.364G>A	15.37:g.55669237C>T	ENSP00000311656:p.Val122Ile					CCPG1_uc002acy.2_Missense_Mutation_p.V122I|DYX1C1_uc010ugh.1_RNA|CCPG1_uc002acw.1_5'UTR|CCPG1_uc002acx.2_Missense_Mutation_p.V122I|CCPG1_uc010bfk.1_Missense_Mutation_p.V122I|CCPG1_uc002acz.1_Missense_Mutation_p.V122I	p.V122I	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	5	529	-			122			Cytoplasmic (Potential).|Interaction with MCF2L and SRC (By similarity).		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	c.364G>A	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	C	7.541	0.660707	0.14645	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	T;T;T	0.25250	3.76;3.76;1.81	5.31	2.43	0.29744	.	1.581790	0.04049	N	0.304484	T	0.16041	0.0386	N	0.14661	0.345	0.26350	N	0.977217	B;P;B	0.38370	0.152;0.628;0.152	B;B;B	0.34489	0.036;0.184;0.058	T	0.28202	-1.0051	10	0.19147	T	0.46	.	9.8221	0.40889	0.0:0.7777:0.0:0.2223	.	122;122;122	A8K9T0;Q9ULG6-3;Q9ULG6	.;.;CCPG1_HUMAN	I	122	ENSP00000311656:V122I;ENSP00000403400:V122I;ENSP00000415128:V122I	ENSP00000311656:V122I	V	-	1	0	DYX1C1	53456529	1.000000	0.71417	0.226000	0.23910	0.201000	0.24016	1.564000	0.36375	0.242000	0.21303	-0.157000	0.13467	GTT		PASS	0.398	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		12	53	12	53	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86123578	86123578	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr15:86123578C>T	ENST00000394518.2	+	7	2374	c.2279C>T	c.(2278-2280)tCa>tTa	p.S760L	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.S760L	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	760					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.S760L(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAGGTGGTTTCACATCCACAT	0.428																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(2278-2280)TCA>TTA		A-kinase anchor protein 13 isoform 2							79.0	81.0	80.0					15																	86123578		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86123578C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.2279C>T	15.37:g.86123578C>T	ENSP00000378026:p.Ser760Leu					AKAP13_uc002blt.1_Missense_Mutation_p.S760L|AKAP13_uc002blu.1_Missense_Mutation_p.S760L|AKAP13_uc010bne.1_5'Flank	p.S760L	NM_007200	NP_009131	Q12802	AKP13_HUMAN			7	2449	+			760					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.2279C>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.305984	0.23736	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.09445	2.98;2.98	5.88	2.65	0.31530	.	.	.	.	.	T	0.04998	0.0134	N	0.08118	0	0.09310	N	0.999994	B;B	0.09022	0.001;0.002	B;B	0.11329	0.003;0.006	T	0.45338	-0.9268	9	0.17832	T	0.49	.	6.7299	0.23377	0.0:0.6786:0.0:0.3214	.	760;760	Q12802;Q12802-2	AKP13_HUMAN;.	L	760;760;759;759	ENSP00000354718:S760L;ENSP00000378026:S760L	ENSP00000354718:S760L	S	+	2	0	AKAP13	83924582	0.000000	0.05858	0.002000	0.10522	0.139000	0.21198	-0.286000	0.08399	0.607000	0.29982	0.655000	0.94253	TCA		PASS	0.428	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		5	40	5	40	---	---	---	---
ANPEP	290	broad.mit.edu	37	15	90347814	90347814	+	Missense_Mutation	SNP	G	G	T	rs17240268	byFrequency	TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr15:90347814G>T	ENST00000300060.6	-	5	1245	c.932C>A	c.(931-933)gCg>gAg	p.A311E	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	311	Interaction with HCoV-229E.|Metalloprotease.		A -> V (in dbSNP:rs17240268).		angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.A311E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GCCGTGGCCCGCCGCAATGGC	0.602																																					NSCLC(30;827 977 2459 19669 26125)	uc002bop.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(931-933)GCG>GAG		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)						64.0	70.0	68.0					15																	90347814		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90347814G>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.932C>A	15.37:g.90347814G>T	ENSP00000300060:p.Ala311Glu						p.A311E	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		5	1224	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		311			Extracellular.|Interaction with HCoV-229E.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.932C>A	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	g	0.821	-0.748516	0.03065	.	.	ENSG00000166825	ENST00000300060	T	0.02709	4.19	4.87	-2.78	0.05859	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.464602	0.22775	N	0.055785	T	0.01353	0.0044	N	0.11845	0.185	0.80722	P	0.0	B	0.14805	0.011	B	0.21917	0.037	T	0.49476	-0.8936	9	0.02654	T	1	.	8.8366	0.35115	0.1182:0.0:0.5073:0.3745	.	311	P15144	AMPN_HUMAN	E	311	ENSP00000300060:A311E	ENSP00000300060:A311E	A	-	2	0	ANPEP	88148818	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.465000	0.06680	-0.056000	0.13221	-0.642000	0.03964	GCG		PASS	0.602	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			3	59	3	59	---	---	---	---
DECR2	26063	broad.mit.edu	37	16	457540	457540	+	Missense_Mutation	SNP	G	G	A	rs376878406		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr16:457540G>A	ENST00000219481.5	+	4	455	c.317G>A	c.(316-318)aGa>aAa	p.R106K	DECR2_ENST00000424398.2_Missense_Mutation_p.R94K|DECR2_ENST00000397710.1_Missense_Mutation_p.R157K|DECR2_ENST00000461947.1_Intron	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	106					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)	p.R106K(1)|p.R157K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				GAGTTTGGCAGAATCGACATT	0.607																																						uc002chb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(316-318)AGA>AAA		2,4-dienoyl CoA reductase 2		G	LYS/ARG	1,4403	2.1+/-5.4	0,1,2201	117.0	119.0	118.0		317	2.5	1.0	16		118	0,8600		0,0,4300	no	missense	DECR2	NM_020664.3	26	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	106/293	457540	1,13003	2202	4300	6502	SO:0001583	missense	26063					peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding	g.chr16:457540G>A	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2754	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 17C, member 1"""	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.317G>A	16.37:g.457540G>A	ENSP00000219481:p.Arg106Lys					DECR2_uc002chc.2_Missense_Mutation_p.R22K|DECR2_uc010bqv.2_Missense_Mutation_p.R22K|DECR2_uc002chd.2_Missense_Mutation_p.R22K|DECR2_uc002che.1_RNA	p.R106K	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN			4	423	+		Hepatocellular(16;0.00015)	106					Q6ZRS7|Q96ET0	Missense_Mutation	SNP	ENST00000219481.5	37	c.317G>A	CCDS10409.1	.	.	.	.	.	.	.	.	.	.	G	9.801	1.180463	0.21787	2.27E-4	0.0	ENSG00000242612	ENST00000219481;ENST00000397710;ENST00000424398	T;T	0.22539	1.95;1.95	4.89	2.5	0.30297	NAD(P)-binding domain (1);	0.270741	0.38217	N	0.001768	T	0.11836	0.0288	L	0.28014	0.82	0.26455	N	0.975536	B	0.02656	0.0	B	0.08055	0.003	T	0.27536	-1.0071	10	0.18710	T	0.47	.	7.0159	0.24887	0.7291:0.0:0.2709:0.0	.	106	Q9NUI1	DECR2_HUMAN	K	106;157;94	ENSP00000219481:R106K;ENSP00000400374:R94K	ENSP00000219481:R106K	R	+	2	0	DECR2	397541	0.054000	0.20591	0.958000	0.39756	0.649000	0.38597	1.037000	0.30241	0.703000	0.31848	-0.459000	0.05422	AGA		PASS	0.607	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664		13	60	13	60	---	---	---	---
TSC2	7249	broad.mit.edu	37	16	2129556	2129556	+	Splice_Site	SNP	A	A	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr16:2129556A>T	ENST00000219476.3	+	29	3914		c.e29-1		TSC2_ENST00000568454.1_Splice_Site|TSC2_ENST00000439673.2_Splice_Site|TSC2_ENST00000401874.2_Splice_Site|TSC2_ENST00000353929.4_Splice_Site|TSC2_ENST00000350773.4_Splice_Site|TSC2_ENST00000568366.1_Splice_Site|TSC2_ENST00000382538.6_Splice_Site	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.?(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TTCTCTTCTCAGCTCCAGCCC	0.692			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc002con.2			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	D|Mis|N|F|S	tuberous sclerosis 2 gene			"""E, O"""		hamartoma|renal cell			2	Unknown(2)		lung(2)	central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10						c.e29-2		tuberous sclerosis 2 isoform 1							26.0	26.0	26.0					16																	2129556		2181	4291	6472	SO:0001630	splice_region_variant	7249	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2129556A>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3285-1A>T	16.37:g.2129556A>T						TSC2_uc010bsd.2_Splice_Site_p.S1095_splice|TSC2_uc002coo.2_Splice_Site_p.S1051_splice|TSC2_uc010uvv.1_Splice_Site_p.S1015_splice|TSC2_uc010uvw.1_Splice_Site_p.S1003_splice|TSC2_uc002cop.2_Splice_Site_p.S851_splice	p.S1095_splice	NM_000548	NP_000539	P49815	TSC2_HUMAN			29	3391	+		Hepatocellular(780;0.0202)						A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Splice_Site	SNP	ENST00000219476.3	37	c.3285_splice	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.899097	0.33535	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9889	0.41858	0.8304:0.1696:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TSC2	2069557	0.994000	0.37717	0.399000	0.26333	0.003000	0.03518	2.443000	0.44881	1.896000	0.54893	0.459000	0.35465	.		PASS	0.692	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	Intron	6	5	6	5	---	---	---	---
TMC5	79838	broad.mit.edu	37	16	19501870	19501870	+	Silent	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr16:19501870C>T	ENST00000396229.2	+	18	3476	c.2727C>T	c.(2725-2727)ttC>ttT	p.F909F	TMC5_ENST00000381414.4_Intron|TMC5_ENST00000541464.1_Silent_p.F857F|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000542583.2_Silent_p.F909F|TMC5_ENST00000219821.5_Silent_p.F663F|TMC5_ENST00000561503.1_Silent_p.F550F|TMC5_ENST00000564959.1_Silent_p.F592F	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	909					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.F663F(1)|p.F909F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACTTCTTTTTCATCCTCACCC	0.517																																						uc002dgc.3																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(2725-2727)TTC>TTT		transmembrane channel-like 5 isoform a							312.0	267.0	282.0					16																	19501870		2197	4300	6497	SO:0001819	synonymous_variant	79838					integral to membrane		g.chr16:19501870C>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2727C>T	16.37:g.19501870C>T						TMC5_uc010vaq.1_Silent_p.F857F|TMC5_uc002dgb.3_Intron|TMC5_uc010var.1_Silent_p.F909F|TMC5_uc002dgd.1_Silent_p.F663F|TMC5_uc002dge.3_Silent_p.F663F|TMC5_uc002dgf.3_Silent_p.F592F|TMC5_uc002dgg.3_Silent_p.F550F	p.F909F	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN			18	3476	+			909			Helical; (Potential).		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Silent	SNP	ENST00000396229.2	37	c.2727C>T	CCDS45431.1																																																																																				PASS	0.517	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		5	111	5	111	---	---	---	---
ACSM1	116285	broad.mit.edu	37	16	20693760	20693760	+	Silent	SNP	G	G	A	rs376257837		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr16:20693760G>A	ENST00000307493.4	-	3	496	c.429C>T	c.(427-429)atC>atT	p.I143I	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.I143I	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	143					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.I143I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CCTTCAACAGGATGGTCGCAG	0.463																																						uc002dhm.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(427-429)ATC>ATT		acyl-CoA synthetase medium-chain family member							85.0	73.0	77.0					16																	20693760		2201	4300	6501	SO:0001819	synonymous_variant	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20693760G>A	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.429C>T	16.37:g.20693760G>A						ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Silent_p.I143I	p.I143I	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN			3	497	-			143					Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	37	c.429C>T	CCDS10587.1																																																																																				PASS	0.463	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		8	19	8	19	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21011702	21011702	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr16:21011702G>T	ENST00000261383.3	-	43	6264	c.6265C>A	c.(6265-6267)Ctc>Atc	p.L2089I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2089	AAA 3. {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)|microtubule motor activity (GO:0003777)	p.L2089I(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGAAGGTGGAGAAGGAAGTTG	0.483																																						uc010vbe.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(6265-6267)CTC>ATC		dynein, axonemal, heavy chain 3							227.0	180.0	196.0					16																	21011702		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21011702G>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6265C>A	16.37:g.21011702G>T	ENSP00000261383:p.Leu2089Ile						p.L2089I	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	43	6265	-			2089			AAA 3 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.6265C>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832940	0.32421	.	.	ENSG00000158486	ENST00000261383	T	0.39787	1.06	5.82	2.62	0.31277	ATPase, AAA+ type, core (1);	0.264809	0.32002	N	0.006728	T	0.24967	0.0606	L	0.31294	0.92	0.52501	D	0.999951	B	0.21688	0.059	B	0.19666	0.026	T	0.09422	-1.0675	10	0.35671	T	0.21	.	3.6124	0.08065	0.1439:0.1157:0.5408:0.1996	.	2089	Q8TD57	DYH3_HUMAN	I	2089	ENSP00000261383:L2089I	ENSP00000261383:L2089I	L	-	1	0	DNAH3	20919203	0.908000	0.30866	0.998000	0.56505	0.954000	0.61252	0.795000	0.26972	1.459000	0.47892	0.563000	0.77884	CTC		PASS	0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		16	37	16	37	---	---	---	---
ABCC12	94160	broad.mit.edu	37	16	48149466	48149466	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr16:48149466C>T	ENST00000311303.3	-	13	2194	c.1849G>A	c.(1849-1851)Gtc>Atc	p.V617I	ABCC12_ENST00000416054.1_Silent_p.L592L|ABCC12_ENST00000448542.1_Missense_Mutation_p.V617I	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	617	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.V617I(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCGGAGTAGACAGCGCGGGCC	0.627																																						uc002efc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1849-1851)GTC>ATC		ATP-binding cassette protein C12							73.0	66.0	68.0					16																	48149466		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48149466C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1849G>A	16.37:g.48149466C>T	ENSP00000311030:p.Val617Ile					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	p.V617I	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			13	2195	-		all_cancers(37;0.0474)|all_lung(18;0.047)	617			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.1849G>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284856	0.23392	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	T;T	0.81415	-1.49;-1.49	5.09	2.11	0.27256	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.126385	0.52532	N	0.000062	T	0.57577	0.2063	N	0.04805	-0.155	0.80722	D	1	B	0.12013	0.005	B	0.17979	0.02	T	0.44375	-0.9332	10	0.48119	T	0.1	.	5.0418	0.14463	0.145:0.6185:0.0:0.2365	.	617	Q96J65	MRP9_HUMAN	I	617;617;559	ENSP00000311030:V617I;ENSP00000401855:V617I	ENSP00000311030:V617I	V	-	1	0	ABCC12	46706967	0.912000	0.30974	0.337000	0.25536	0.011000	0.07611	1.851000	0.39338	0.276000	0.22118	-0.251000	0.11542	GTC		PASS	0.627	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		7	40	7	40	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61823381	61823381	+	Missense_Mutation	SNP	G	G	T	rs202205123		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr16:61823381G>T	ENST00000577390.1	-	8	2237	c.1283C>A	c.(1282-1284)tCc>tAc	p.S428Y	CDH8_ENST00000299345.6_Missense_Mutation_p.S428Y|CDH8_ENST00000584337.1_Missense_Mutation_p.S428Y|CDH8_ENST00000577730.1_Missense_Mutation_p.S428Y	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	428	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.S428Y(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCGGTCGATGGAAAACCTACA	0.423																																						uc002eog.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(1282-1284)TCC>TAC		cadherin 8, type 2 preproprotein							160.0	136.0	145.0					16																	61823381		2203	4299	6502	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61823381G>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1283C>A	16.37:g.61823381G>T	ENSP00000462701:p.Ser428Tyr					CDH8_uc002eoh.2_Missense_Mutation_p.S197Y	p.S428Y	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	8	1535	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	428			Extracellular (Potential).|Cadherin 4.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1283C>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383183	0.82792	.	.	ENSG00000150394	ENST00000299345	T	0.55052	0.54	5.3	5.3	0.74995	Cadherin (4);Cadherin-like (1);	0.050267	0.85682	D	0.000000	T	0.72203	0.3431	M	0.79011	2.435	0.48288	D	0.999623	P;P	0.45569	0.729;0.861	P;P	0.58266	0.703;0.836	T	0.73720	-0.3894	10	0.56958	D	0.05	.	19.305	0.94157	0.0:0.0:1.0:0.0	.	244;428	Q3LID3;P55286	.;CADH8_HUMAN	Y	428	ENSP00000299345:S428Y	ENSP00000299345:S428Y	S	-	2	0	CDH8	60380882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.917000	0.69989	2.629000	0.89072	0.491000	0.48974	TCC		PASS	0.423	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		14	35	14	35	---	---	---	---
SMPD3	55512	broad.mit.edu	37	16	68404963	68404963	+	Silent	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr16:68404963C>T	ENST00000219334.5	-	3	1725	c.1122G>A	c.(1120-1122)ttG>ttA	p.L374L	SMPD3_ENST00000566009.1_5'Flank|SMPD3_ENST00000563226.1_Silent_p.L374L|SMPD3_ENST00000568373.1_Silent_p.L374L	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	374					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.L374L(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GCTGCTCTTTCAATTTGGTGG	0.602																																						uc002ewa.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1120-1122)TTG>TTA		neutral sphingomyelin phosphodiesterase 3	Phosphatidylserine(DB00144)						74.0	59.0	64.0					16																	68404963		2198	4300	6498	SO:0001819	synonymous_variant	55512				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr16:68404963C>T	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1122G>A	16.37:g.68404963C>T						SMPD3_uc010cfe.2_Silent_p.L374L|SMPD3_uc010vlh.1_Silent_p.L374L	p.L374L	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	3	1544	-		Ovarian(137;0.0563)	374			Lumenal (Potential).		B7ZL82|Q2M1S8	Silent	SNP	ENST00000219334.5	37	c.1122G>A	CCDS10867.1																																																																																				PASS	0.602	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		7	25	7	25	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	71220757	71220757	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr16:71220757C>G	ENST00000393567.2	-	2	192	c.42G>C	c.(40-42)caG>caC	p.Q14H	HYDIN_ENST00000288168.10_Missense_Mutation_p.Q31H|HYDIN_ENST00000448089.2_Missense_Mutation_p.Q14H|HYDIN_ENST00000538248.1_Missense_Mutation_p.Q41H|HYDIN_ENST00000321489.5_Missense_Mutation_p.Q14H|HYDIN_ENST00000393550.2_Missense_Mutation_p.Q14H|HYDIN_ENST00000541601.1_Missense_Mutation_p.Q31H|HYDIN_ENST00000448691.1_Missense_Mutation_p.Q14H	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	14					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.Q14H(4)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCAATCCCATCTGAACAGCCC	0.378																																						uc002ezr.2																			4	Substitution - Missense(4)		lung(4)	ovary(1)|skin(1)	2						c.(40-42)CAG>CAC		hydrocephalus inducing isoform a							162.0	154.0	157.0					16																	71220757		2198	4300	6498	SO:0001583	missense	54768							g.chr16:71220757C>G	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.42G>C	16.37:g.71220757C>G	ENSP00000377197:p.Gln14His					HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Missense_Mutation_p.Q14H|HYDIN_uc010vmc.1_Missense_Mutation_p.Q31H|HYDIN_uc010vmd.1_Missense_Mutation_p.Q41H|HYDIN_uc002ezw.3_Missense_Mutation_p.Q31H	p.Q14H	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			2	170	-		Ovarian(137;0.0654)	14					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.42G>C	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	4.414	0.076483	0.08485	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550;ENST00000539973;ENST00000545267	T;T;T;T;T;T;T;T	0.15487	5.54;3.69;3.69;3.69;3.67;3.69;3.32;2.42	5.55	-2.5	0.06384	.	.	.	.	.	T	0.08268	0.0206	N	0.17474	0.49	0.09310	N	0.999998	B;B;B;B;B	0.15141	0.002;0.002;0.012;0.005;0.002	B;B;B;B;B	0.12156	0.004;0.004;0.007;0.004;0.004	T	0.37798	-0.9690	9	0.27082	T	0.32	.	5.3923	0.16251	0.3527:0.42:0.0:0.2273	.	41;31;31;14;14	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	H	14;14;14;14;14;41;31;31;14;54;54	ENSP00000377197:Q14H;ENSP00000398544:Q14H;ENSP00000394826:Q14H;ENSP00000314736:Q14H;ENSP00000444970:Q41H;ENSP00000437341:Q31H;ENSP00000288168:Q31H;ENSP00000377181:Q14H	ENSP00000288168:Q31H	Q	-	3	2	HYDIN	69778258	0.422000	0.25473	0.433000	0.26760	0.128000	0.20619	0.016000	0.13377	-0.264000	0.09365	-0.806000	0.03193	CAG		PASS	0.378	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			11	80	11	80	---	---	---	---
PHLPP2	23035	broad.mit.edu	37	16	71713410	71713410	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr16:71713410A>T	ENST00000568954.1	-	7	1297	c.919T>A	c.(919-921)Tcc>Acc	p.S307T	PHLPP2_ENST00000360429.3_Missense_Mutation_p.S307T|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S342T|PHLPP2_ENST00000393524.2_Missense_Mutation_p.S307T|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S307T			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	307					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.S307T(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TTATTATGGGACAAGTTCAGG	0.383																																						uc002fax.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(919-921)TCC>ACC		PH domain and leucine rich repeat protein							87.0	84.0	85.0					16																	71713410		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71713410A>T	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.919T>A	16.37:g.71713410A>T	ENSP00000457991:p.Ser307Thr					PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Missense_Mutation_p.S307T|PHLPP2_uc002fay.1_Missense_Mutation_p.S307T	p.S307T	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			6	925	-			307			LRR 3.		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.919T>A	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612102	0.87258	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.29142	1.58;2.07;1.58	6.03	4.91	0.64330	.	0.050091	0.85682	D	0.000000	T	0.45975	0.1369	M	0.82132	2.575	0.46437	D	0.999046	P;P	0.49559	0.925;0.546	P;B	0.49597	0.616;0.09	T	0.49588	-0.8924	10	0.54805	T	0.06	-7.3333	12.5794	0.56381	0.8611:0.1389:0.0:0.0	.	307;307	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	T	114;307;307;307;307	ENSP00000353610:S307T;ENSP00000348611:S307T;ENSP00000377159:S307T	ENSP00000299971:S114T	S	-	1	0	PHLPP2	70270911	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.457000	0.80775	1.067000	0.40740	0.533000	0.62120	TCC		PASS	0.383	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		6	55	6	55	---	---	---	---
OR3A1	4994	broad.mit.edu	37	17	3195412	3195412	+	Silent	SNP	A	A	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr17:3195412A>G	ENST00000323404.1	-	1	464	c.465T>C	c.(463-465)gcT>gcC	p.A155A	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	155					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.A155A(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						CGTTGGTGAAAGCACAAGCCC	0.577																																					GBM(20;287 516 18743 28660 36594)	uc002fvh.1																			1	Substitution - coding silent(1)		lung(1)	kidney(2)|central_nervous_system(1)	3						c.(463-465)GCT>GCC		olfactory receptor, family 3, subfamily A,							181.0	163.0	169.0					17																	3195412		2203	4300	6503	SO:0001819	synonymous_variant	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195412A>G	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.465T>C	17.37:g.3195412A>G							p.A155A	NM_002550	NP_002541	P47881	OR3A1_HUMAN			1	465	-			155			Helical; Name=4; (Potential).		Q4VB06|Q6IFM4	Silent	SNP	ENST00000323404.1	37	c.465T>C	CCDS11023.1																																																																																				PASS	0.577	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			16	70	16	70	---	---	---	---
USP6	9098	broad.mit.edu	37	17	5035697	5035697	+	Silent	SNP	G	G	A	rs369687160		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr17:5035697G>A	ENST00000574788.1	+	12	2392	c.162G>A	c.(160-162)acG>acA	p.T54T	USP6_ENST00000332776.4_Silent_p.T54T|USP6_ENST00000250066.6_Silent_p.T54T|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000572429.1_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	54					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.T54T(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACAGTGAGACGGAGCTGCCTC	0.662			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		2	Substitution - coding silent(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(160-162)ACG>ACA		ubiquitin specific protease 6		G		0,4406		0,0,2203	101.0	111.0	108.0		162	-1.3	0.1	17		108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	USP6	NM_004505.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		54/1407	5035697	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5035697G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.162G>A	17.37:g.5035697G>A						USP6_uc002gav.1_Silent_p.T54T|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.2_Silent_p.T115T|uc002gay.1_5'Flank	p.T54T	NM_004505	NP_004496	P35125	UBP6_HUMAN			12	2392	+			54					Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	c.162G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	5.623	0.299745	0.10622	0.0	1.16E-4	ENSG00000129204	ENST00000396805	.	.	.	1.01	-1.34	0.09143	.	.	.	.	.	T	0.56077	0.1961	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59663	-0.7412	5	0.87932	D	0	.	4.1097	0.10053	0.0:0.4528:0.5471:0.0	.	.	.	.	Q	53	.	ENSP00000380022:R53Q	R	+	2	0	USP6	4976421	0.219000	0.23619	0.067000	0.19924	0.065000	0.16274	0.144000	0.16135	0.433000	0.26313	0.121000	0.15741	CGG		PASS	0.662	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		17	75	17	75	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	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		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(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	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)CGG>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	p.R248W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	936	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	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	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		PASS	0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	8	14	8	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7696114	7696114	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr17:7696114G>C	ENST00000572933.1	+	47	8745	c.7285G>C	c.(7285-7287)Gtt>Ctt	p.V2429L	DNAH2_ENST00000389173.2_Missense_Mutation_p.V2429L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2429	AAA 3. {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.V2429L(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGCCCAGAGCGTTCTGCAGTC	0.632																																						uc002giu.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(7285-7287)GTT>CTT		dynein heavy chain domain 3							74.0	67.0	69.0					17																	7696114		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7696114G>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7285G>C	17.37:g.7696114G>C	ENSP00000458355:p.Val2429Leu						p.V2429L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			46	7299	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2429			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.7285G>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.702006	0.68501	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.16897	2.31	5.47	5.47	0.80525	ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	T	0.17916	0.0430	L	0.27975	0.815	0.80722	D	1	B	0.29232	0.238	B	0.39660	0.306	T	0.08207	-1.0733	10	0.12430	T	0.62	.	18.1078	0.89526	0.0:0.0:1.0:0.0	.	2429	Q9P225	DYH2_HUMAN	L	2429	ENSP00000373825:V2429L	ENSP00000353818:V2429L	V	+	1	0	DNAH2	7636839	1.000000	0.71417	0.946000	0.38457	0.785000	0.44390	5.842000	0.69417	2.573000	0.86826	0.643000	0.83706	GTT		PASS	0.632	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		9	26	9	26	---	---	---	---
CDRT1	374286	broad.mit.edu	37	17	15516031	15516031	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr17:15516031C>T	ENST00000395906.3	-	5	1105	c.1106G>A	c.(1105-1107)tGg>tAg	p.W369*	RP11-385D13.1_ENST00000455584.2_Nonsense_Mutation_p.W679*	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	369								p.W369*(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TCTCAACTTCCACTTCGGATG	0.463																																						uc002gor.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|skin(1)	3						c.(2035-2037)TGG>TAG		SubName: Full=Putative uncharacterized protein; Flags: Fragment;							219.0	217.0	217.0					17																	15516031		2203	4300	6503	SO:0001587	stop_gained	10626				histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding	g.chr17:15516031C>T	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.1106G>A	17.37:g.15516031C>T	ENSP00000379242:p.Trp369*					CDRT1_uc002gov.3_Nonsense_Mutation_p.W369*	p.W679*			O95361	TRI16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	11	2373	-			Error:Variant_position_missing_in_O95361_after_alignment					O43848|O95611	Nonsense_Mutation	SNP	ENST00000395906.3	37	c.2036G>A	CCDS45619.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.857266|4.857266	0.91433|0.91433	.|.	.|.	ENSG00000251537|ENSG00000251537	ENST00000455584|ENST00000261644;ENST00000395906	.|.	.|.	.|.	5.34|5.34	2.07|2.07	0.26955|0.26955	.|.	.|0.578568	.|0.17243	.|U	.|0.181460	T|.	0.52141|.	0.1716|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26710|.	-1.0095|.	4|.	.|0.15499	.|T	.|0.54	.|.	12.5583|12.5583	0.56267|0.56267	0.6216:0.3784:0.0:0.0|0.6216:0.3784:0.0:0.0	.|.	.|.	.|.	.|.	R|X	694|399;369	.|.	.|ENSP00000261644:W399X	G|W	-|-	1|2	0|0	RP11-385D13.1|RP11-385D13.1	15456756|15456756	0.994000|0.994000	0.37717|0.37717	0.485000|0.485000	0.27403|0.27403	0.038000|0.038000	0.13279|0.13279	0.129000|0.129000	0.15830|0.15830	0.172000|0.172000	0.19760|0.19760	0.555000|0.555000	0.69702|0.69702	GGA|TGG		PASS	0.463	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		26	161	26	161	---	---	---	---
FAM27L	284123	broad.mit.edu	37	17	21826125	21826125	+	lincRNA	SNP	T	T	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr17:21826125T>G	ENST00000426869.3	+	0	308					NR_028336.1		Q8N5T8	FA27L_HUMAN	family with sequence similarity 27-like									p.I35R(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		CAGCCAAGGATAAAAGCCCCA	0.527																																						uc002gyz.2																			1	Substitution - Missense(1)		lung(1)		0								Homo sapiens family with sequence similarity 27-like, mRNA (cDNA clone MGC:35151 IMAGE:5169482), complete cds.							58.0	60.0	59.0					17																	21826125		1891	4128	6019			284123							g.chr17:21826125T>G	BC031617		17p11.2	2014-01-28				ENSG00000178130			32410	protein-coding gene	gene with protein product							Standard	NR_028336		Approved	MGC35151	uc002gyz.4	Q8N5T8			17.37:g.21826125T>G								NR_028336					UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)	2		+									RNA	SNP	ENST00000426869.3	37	c.235T>G		.	.	.	.	.	.	.	.	.	.	T	0.431	-0.903166	0.02453	.	.	ENSG00000178130	ENST00000426869	.	.	.	0.158	-0.317	0.12736	.	.	.	.	.	T	0.34193	0.0889	.	.	.	0.24104	N	0.99587	.	.	.	.	.	.	T	0.37150	-0.9718	3	0.48119	T	0.1	.	.	.	.	.	.	.	.	R	35	.	ENSP00000388448:I35R	I	+	2	0	FAM27L	21750252	0.006000	0.16342	0.003000	0.11579	0.003000	0.03518	-1.132000	0.03235	-1.073000	0.03137	-1.073000	0.02249	ATA		PASS	0.527	FAM27L-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389059.2	NM_203392		17	25	17	25	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29486068	29486068	+	Missense_Mutation	SNP	C	C	G	rs199474729		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr17:29486068C>G	ENST00000358273.4	+	3	628	c.245C>G	c.(244-246)tCt>tGt	p.S82C	NF1_ENST00000356175.3_Missense_Mutation_p.S82C|NF1_ENST00000431387.4_Missense_Mutation_p.S82C	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	82			S -> F (in NF1; dbSNP:rs199474729). {ECO:0000269|PubMed:11857752}.		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.S82C(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)		TTATATCTCTCTCAGTTGATT	0.328			"""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.0?(5)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|lung(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	GRCh37	CM020462	NF1	M		c.(244-246)TCT>TGT		neurofibromin isoform 1							64.0	69.0	67.0					17																	29486068		2202	4299	6501	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.chr17:29486068C>G		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.245C>G	17.37:g.29486068C>G	ENSP00000351015:p.Ser82Cys	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.1_Missense_Mutation_p.S82C|NF1_uc002hgf.1_Missense_Mutation_p.S82C|NF1_uc002hgh.2_Missense_Mutation_p.S82C|NF1_uc010csn.1_5'UTR	p.S82C	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)	3	578	+		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)	82		S -> F (in NF1).			O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.245C>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485531	0.44147	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	T;T;T	0.18657	2.2;2.48;2.63	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.50171	0.1600	M	0.77313	2.365	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.79108	0.987;0.979;0.992;0.987	T	0.54977	-0.8212	10	0.87932	D	0	.	18.9061	0.92462	0.0:1.0:0.0:0.0	.	82;82;82;82	P21359-2;P21359;Q14931;P21359-3	.;NF1_HUMAN;.;.	C	82	ENSP00000412921:S82C;ENSP00000351015:S82C;ENSP00000348498:S82C	ENSP00000348498:S82C	S	+	2	0	NF1	26510194	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.221000	0.78016	2.515000	0.84797	0.650000	0.86243	TCT		PASS	0.328	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		3	53	3	53	---	---	---	---
RHOT1	55288	broad.mit.edu	37	17	30519306	30519306	+	Silent	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr17:30519306C>A	ENST00000333942.6	+	9	866	c.627C>A	c.(625-627)ctC>ctA	p.L209L	RHOT1_ENST00000583994.1_Silent_p.L82L|RHOT1_ENST00000394692.2_Silent_p.L209L|RHOT1_ENST00000581094.1_Silent_p.L209L|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000358365.3_Silent_p.L209L|RHOT1_ENST00000354266.3_Silent_p.L188L|RHOT1_ENST00000545287.2_Silent_p.L209L	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	209	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L209L(1)		NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				ATGCTGAACTCAACTTCTTTC	0.299																																						uc002hgz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(625-627)CTC>CTA		ras homolog gene family, member T1 isoform 3							90.0	90.0	90.0					17																	30519306		2203	4292	6495	SO:0001819	synonymous_variant	55288				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr17:30519306C>A	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.627C>A	17.37:g.30519306C>A						RHOT1_uc002hgw.2_Silent_p.L209L|RHOT1_uc002hgy.2_Silent_p.L209L|RHOT1_uc002hha.2_Silent_p.L82L|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_Silent_p.L82L|RHOT1_uc010wby.1_Silent_p.L209L|RHOT1_uc002hhb.2_Silent_p.L188L|RHOT1_uc002hgv.2_Silent_p.L209L	p.L209L	NM_018307	NP_060777	Q8IXI2	MIRO1_HUMAN			9	866	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	209			EF-hand 1.|Mitochondrial intermembrane (Potential).		A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Silent	SNP	ENST00000333942.6	37	c.627C>A	CCDS32612.1																																																																																				PASS	0.299	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		8	56	8	56	---	---	---	---
IKZF3	22806	broad.mit.edu	37	17	37947744	37947744	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr17:37947744G>A	ENST00000346872.3	-	5	578	c.517C>T	c.(517-519)Cct>Tct	p.P173S	IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000535189.1_Missense_Mutation_p.P139S|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000351680.3_Missense_Mutation_p.P173S|IKZF3_ENST00000350532.3_Missense_Mutation_p.P173S|IKZF3_ENST00000377958.2_Missense_Mutation_p.P86S|IKZF3_ENST00000439167.2_Missense_Mutation_p.P139S|IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000346243.3_Missense_Mutation_p.P173S|IKZF3_ENST00000377952.2_Intron	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	173					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.P173S(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)			CACTTAAAAGGTTTTTCCCCT	0.458																																						uc002hsu.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|kidney(2)|skin(2)	6						c.(517-519)CCT>TCT		aiolos isoform 1							195.0	181.0	186.0					17																	37947744		2203	4300	6503	SO:0001583	missense	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.chr17:37947744G>A	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.517C>T	17.37:g.37947744G>A	ENSP00000344544:p.Pro173Ser					IKZF3_uc002htd.2_Missense_Mutation_p.P139S|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Missense_Mutation_p.P139S|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Missense_Mutation_p.P173S|IKZF3_uc002hsx.2_Intron|IKZF3_uc002hsy.2_Missense_Mutation_p.P173S|IKZF3_uc002hsz.2_Intron|IKZF3_uc002hta.2_Missense_Mutation_p.P173S|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.P86S|IKZF3_uc002htc.2_Intron	p.P173S	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)		5	579	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		173					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.517C>T	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114914	0.94339	.	.	ENSG00000161405	ENST00000488188;ENST00000377958;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532	T;T;T;T;T	0.78707	-1.2;2.32;1.61;-1.2;2.32	5.64	5.64	0.86602	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000029	D	0.89605	0.6763	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.981;0.999;0.998;1.0	D	0.89878	0.4028	10	0.66056	D	0.02	-9.7047	20.0769	0.97748	0.0:0.0:1.0:0.0	.	86;139;173;173;173;139;173	Q9UKT9-9;Q9UKT9-7;Q9UKT9-6;Q9UKT9-4;Q9UKT9-3;Q9UKT9-8;Q9UKT9	.;.;.;.;.;.;IKZF3_HUMAN	S	173;86;139;173;173;173	ENSP00000367194:P86S;ENSP00000438972:P139S;ENSP00000345622:P173S;ENSP00000341977:P173S;ENSP00000344471:P173S	ENSP00000341977:P173S	P	-	1	0	IKZF3	35201270	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.820000	0.97059	0.650000	0.86243	CCT		PASS	0.458	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		23	135	23	135	---	---	---	---
KRTAP1-3	81850	broad.mit.edu	37	17	39190888	39190888	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr17:39190888C>A	ENST00000344363.5	-	1	219	c.186G>T	c.(184-186)caG>caT	p.Q62H		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	72			Missing (in allele KAP1.9). {ECO:0000269|PubMed:12228244}.	GFPSFSTSGTCSS -> DFLASQLVDLQL (in Ref. 1). {ECO:0000305}.		keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.Q62H(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCAGCTTGGCTGGCAGCAAC	0.612																																						uc002hvv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(184-186)CAG>CAT		keratin associated protein 1-3							34.0	39.0	37.0					17																	39190888		1986	4174	6160	SO:0001583	missense	81850					extracellular region|keratin filament	structural constituent of epidermis	g.chr17:39190888C>A	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.186G>T	17.37:g.39190888C>A	ENSP00000344420:p.Gln62His						p.Q62H	NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	220	-		Breast(137;0.000496)	72		Missing (in allele KAP1.9).			Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	ENST00000344363.5	37	c.186G>T	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656192	0.47467	.	.	ENSG00000221880	ENST00000344363	T	0.32515	1.45	3.15	1.16	0.20824	.	.	.	.	.	T	0.30448	0.0765	.	.	.	0.30980	N	0.722576	P	0.43826	0.818	P	0.46629	0.522	T	0.33445	-0.9868	8	0.62326	D	0.03	.	5.0848	0.14676	0.0:0.7211:0.0:0.2789	.	72	Q8IUG1	KRA13_HUMAN	H	62	ENSP00000344420:Q62H	ENSP00000344420:Q62H	Q	-	3	2	KRTAP1-3	36444414	0.646000	0.27295	0.924000	0.36721	0.473000	0.32948	-0.533000	0.06157	0.360000	0.24265	0.436000	0.28706	CAG		PASS	0.612	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			17	54	17	54	---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40318470	40318470	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr17:40318470C>A	ENST00000264661.3	-	10	2017	c.1685G>T	c.(1684-1686)aGg>aTg	p.R562M	KCNH4_ENST00000607371.1_Missense_Mutation_p.R562M	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	562					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R562M(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CAGGCAGCCCCTGCTCGCTGC	0.607																																					NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1684-1686)AGG>ATG		potassium voltage-gated channel, subfamily H,							44.0	39.0	40.0					17																	40318470		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40318470C>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1685G>T	17.37:g.40318470C>A	ENSP00000264661:p.Arg562Met						p.R562M	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	2018	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	562			Cytoplasmic (Potential).|cNMP.			Missense_Mutation	SNP	ENST00000264661.3	37	c.1685G>T	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026879	0.75390	.	.	ENSG00000089558	ENST00000264661	D	0.96716	-4.1	4.2	4.2	0.49525	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.42420	D	0.000710	D	0.97164	0.9073	L	0.55481	1.735	0.50039	D	0.999844	D	0.76494	0.999	D	0.68192	0.956	D	0.97454	1.0030	10	0.52906	T	0.07	.	16.7067	0.85374	0.0:1.0:0.0:0.0	.	562	Q9UQ05	KCNH4_HUMAN	M	562	ENSP00000264661:R562M	ENSP00000264661:R562M	R	-	2	0	KCNH4	37571996	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.651000	0.83577	2.182000	0.69389	0.563000	0.77884	AGG		PASS	0.607	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		7	28	7	28	---	---	---	---
SPATA20	64847	broad.mit.edu	37	17	48631635	48631635	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr17:48631635G>A	ENST00000356488.4	+	14	2016	c.1933G>A	c.(1933-1935)Gcc>Acc	p.A645T	SPATA20_ENST00000511937.1_3'UTR|CACNA1G-AS1_ENST00000505793.1_RNA|SPATA20_ENST00000006658.6_Missense_Mutation_p.A661T|CACNA1G-AS1_ENST00000508920.1_RNA|CACNA1G-AS1_ENST00000505495.1_RNA|SPATA20_ENST00000393244.3_Missense_Mutation_p.A601T	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	645					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)	p.A661T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			AGAGCCCAGCGCCAATTCCGT	0.612																																						uc002irf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1933-1935)GCC>ACC		spermatogenesis associated 20							102.0	73.0	83.0					17																	48631635		2203	4300	6503	SO:0001583	missense	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48631635G>A		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1933G>A	17.37:g.48631635G>A	ENSP00000348878:p.Ala645Thr					SPATA20_uc002irc.2_Missense_Mutation_p.A312T|SPATA20_uc002ire.2_Missense_Mutation_p.A601T|SPATA20_uc002ird.2_Missense_Mutation_p.A661T|SPATA20_uc002irg.2_RNA	p.A645T	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		14	2074	+	Breast(11;1.23e-18)		645					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	c.1933G>A	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951525	0.53186	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.41758	0.99;0.99;0.99	5.25	4.28	0.50868	.	0.121540	0.56097	D	0.000036	T	0.41373	0.1156	M	0.64567	1.98	0.43179	D	0.994996	P;P	0.48294	0.908;0.891	B;B	0.39503	0.158;0.301	T	0.48948	-0.8989	10	0.56958	D	0.05	-30.984	14.8925	0.70620	0.0:0.3363:0.6637:0.0	.	645;661	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	T	661;645;601	ENSP00000006658:A661T;ENSP00000348878:A645T;ENSP00000376935:A601T	ENSP00000006658:A661T	A	+	1	0	SPATA20	45986634	1.000000	0.71417	0.553000	0.28255	0.678000	0.39670	3.043000	0.49823	1.203000	0.43233	0.561000	0.74099	GCC		PASS	0.612	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		3	30	3	30	---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56435050	56435050	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr17:56435050G>A	ENST00000584437.1	-	8	4042	c.2087C>T	c.(2086-2088)gCa>gTa	p.A696V	RNF43_ENST00000577625.1_Missense_Mutation_p.A569V|RNF43_ENST00000581868.1_Missense_Mutation_p.A569V|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Missense_Mutation_p.A655V|RNF43_ENST00000407977.2_Missense_Mutation_p.A696V|RNF43_ENST00000577716.1_Missense_Mutation_p.A696V|RNF43_ENST00000583753.1_Missense_Mutation_p.A655V			Q68DV7	RNF43_HUMAN	ring finger protein 43	696	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A696V(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAAGGGGTGTGCCTCTGGGGA	0.592																																						uc002iwf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2086-2088)GCA>GTA		ring finger protein 43 precursor							95.0	107.0	103.0					17																	56435050		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435050G>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.2087C>T	17.37:g.56435050G>A	ENSP00000463069:p.Ala696Val					RNF43_uc010wnv.1_Missense_Mutation_p.A655V|RNF43_uc002iwh.3_Missense_Mutation_p.A696V|RNF43_uc002iwg.3_Missense_Mutation_p.A696V|RNF43_uc010dcw.2_Missense_Mutation_p.A569V	p.A696V	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN			8	4043	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		696			Pro-rich.|Cytoplasmic (Potential).		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.2087C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.248246	0.22880	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.06528	3.45;3.29	5.71	2.58	0.30949	.	0.442134	0.21088	N	0.080378	T	0.02888	0.0086	N	0.08118	0	0.23693	N	0.997092	B;B;B	0.14438	0.003;0.01;0.002	B;B;B	0.13407	0.004;0.009;0.002	T	0.46247	-0.9205	10	0.21540	T	0.41	-10.946	5.558	0.17127	0.1806:0.1631:0.6563:0.0	.	655;696;696	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	V	696;655	ENSP00000385328:A696V;ENSP00000441969:A655V	ENSP00000385328:A696V	A	-	2	0	RNF43	53790049	0.996000	0.38824	0.999000	0.59377	0.871000	0.50021	0.693000	0.25497	0.319000	0.23209	0.511000	0.50034	GCA		PASS	0.592	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		33	89	33	89	---	---	---	---
BCAS3	54828	broad.mit.edu	37	17	59112076	59112076	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr17:59112076G>T	ENST00000390652.5	+	18	1763	c.1732G>T	c.(1732-1734)Gaa>Taa	p.E578*	BCAS3_ENST00000408905.3_Nonsense_Mutation_p.E563*|BCAS3_ENST00000588874.1_Nonsense_Mutation_p.E334*|BCAS3_ENST00000589222.1_Nonsense_Mutation_p.E563*|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000588462.1_Nonsense_Mutation_p.E578*|BCAS3_ENST00000585744.1_Nonsense_Mutation_p.E349*|BCAS3_ENST00000407086.3_Nonsense_Mutation_p.E563*	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3									p.E578*(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GATGGGCGGAGAATTTTGTGT	0.338																																						uc002iyv.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1732-1734)GAA>TAA		breast carcinoma amplified sequence 3 isoform 1							94.0	88.0	90.0					17																	59112076		1805	4084	5889	SO:0001587	stop_gained	54828					nucleus		g.chr17:59112076G>T	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1732G>T	17.37:g.59112076G>T	ENSP00000375067:p.Glu578*					BCAS3_uc010wow.1_Nonsense_Mutation_p.E350*|BCAS3_uc002iyu.3_Nonsense_Mutation_p.E563*|BCAS3_uc002iyw.3_Nonsense_Mutation_p.E559*|BCAS3_uc002iyy.3_Nonsense_Mutation_p.E334*|BCAS3_uc002iyz.3_Nonsense_Mutation_p.E132*|BCAS3_uc002iza.3_Nonsense_Mutation_p.E117*	p.E578*	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		18	1841	+			578						Nonsense_Mutation	SNP	ENST00000390652.5	37	c.1732G>T	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	G	40	8.115578	0.98662	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000360207	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	.	.	.	X	578;563;593;563;355	.	ENSP00000353336:E355X	E	+	1	0	BCAS3	56466858	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.476000	0.97823	2.880000	0.98712	0.650000	0.86243	GAA		PASS	0.338	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		25	53	25	53	---	---	---	---
KCNH6	81033	broad.mit.edu	37	17	61607532	61607532	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr17:61607532G>A	ENST00000583023.1	+	3	399	c.388G>A	c.(388-390)Gag>Aag	p.E130K	KCNH6_ENST00000580652.1_Missense_Mutation_p.E130K|KCNH6_ENST00000314672.5_Missense_Mutation_p.E130K|KCNH6_ENST00000456941.2_Missense_Mutation_p.E130K|KCNH6_ENST00000581784.1_Missense_Mutation_p.E130K	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	130	PAC.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.E130Q(1)|p.E130K(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TCTCAACTTCGAGGACCTGGC	0.622																																						uc002jay.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	skin(1)	1						c.(388-390)GAG>AAG		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						89.0	76.0	81.0					17																	61607532		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61607532G>A	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.388G>A	17.37:g.61607532G>A	ENSP00000463533:p.Glu130Lys					KCNH6_uc002jax.1_Missense_Mutation_p.E130K|KCNH6_uc010wpl.1_Missense_Mutation_p.E7K|KCNH6_uc010wpm.1_Missense_Mutation_p.E130K|KCNH6_uc002jaz.1_Missense_Mutation_p.E130K	p.E130K	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			3	468	+			130			PAC.|Cytoplasmic (Potential).		Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.388G>A	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.609106	0.46527	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.99563	-6.17;-6.17	4.58	4.58	0.56647	PAS fold (1);	0.000000	0.50627	D	0.000117	D	0.98874	0.9619	L	0.28274	0.84	0.41354	D	0.98738	D;D;P;D;B	0.71674	0.998;0.993;0.793;0.992;0.423	P;P;B;P;B	0.59171	0.709;0.853;0.373;0.849;0.075	D	0.99289	1.0898	10	0.18710	T	0.47	.	17.1631	0.86809	0.0:0.0:1.0:0.0	.	7;130;130;130;130	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	K	130	ENSP00000318212:E130K;ENSP00000396900:E130K	ENSP00000318212:E130K	E	+	1	0	KCNH6	58961264	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	5.531000	0.67148	2.380000	0.81148	0.561000	0.74099	GAG		PASS	0.622	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		24	37	24	37	---	---	---	---
CCDC47	57003	broad.mit.edu	37	17	61838333	61838333	+	Nonsense_Mutation	SNP	T	T	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr17:61838333T>A	ENST00000225726.5	-	6	1058	c.676A>T	c.(676-678)Aag>Tag	p.K226*	CCDC47_ENST00000582252.1_Nonsense_Mutation_p.K226*|CCDC47_ENST00000403162.3_Nonsense_Mutation_p.K226*	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	226					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.K226*(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TCTTGTCTCTTGAGGAACTGA	0.398																																						uc002jbs.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(676-678)AAG>TAG		coiled-coil domain containing 47 precursor							65.0	60.0	62.0					17																	61838333		2203	4300	6503	SO:0001587	stop_gained	57003					integral to membrane	protein binding	g.chr17:61838333T>A	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.676A>T	17.37:g.61838333T>A	ENSP00000225726:p.Lys226*					CCDC47_uc010ddx.2_Nonsense_Mutation_p.K226*|CCDC47_uc002jbt.2_Nonsense_Mutation_p.K226*	p.K226*	NM_020198	NP_064583	Q96A33	CCD47_HUMAN			6	1012	-			226					B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Nonsense_Mutation	SNP	ENST00000225726.5	37	c.676A>T	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	T	38	7.180326	0.98118	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.1415	14.7878	0.69816	0.0:0.0:0.0:1.0	.	.	.	.	X	226	.	ENSP00000225726:K226X	K	-	1	0	CCDC47	59192065	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.758000	0.85224	2.146000	0.66826	0.460000	0.39030	AAG		PASS	0.398	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198		4	17	4	17	---	---	---	---
FASN	2194	broad.mit.edu	37	17	80044224	80044224	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr17:80044224G>A	ENST00000306749.2	-	22	3856	c.3638C>T	c.(3637-3639)cCt>cTt	p.P1213L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1213					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.P1213L(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)	GCTGAGCAGAGGGTCCTCTGG	0.662																																					Colon(59;314 1043 11189 28578 32273)	uc002kdu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(3637-3639)CCT>CTT		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						27.0	24.0	25.0					17																	80044224		2186	4293	6479	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.chr17:80044224G>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.3638C>T	17.37:g.80044224G>A	ENSP00000304592:p.Pro1213Leu					FASN_uc002kdw.1_Missense_Mutation_p.P429L	p.P1213L	NM_004104	NP_004095	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		22	3755	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1213					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.3638C>T	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	0.785	-0.760977	0.02996	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.42900	0.96	4.88	3.81	0.43845	.	0.416754	0.26400	N	0.024588	T	0.32102	0.0818	L	0.29908	0.895	0.54753	D	0.999989	B	0.13145	0.007	B	0.08055	0.003	T	0.10359	-1.0633	10	0.32370	T	0.25	-28.984	15.7664	0.78128	0.0:0.0:0.854:0.146	.	1213	P49327	FAS_HUMAN	L	1213;178	ENSP00000304592:P1213L	ENSP00000304592:P1213L	P	-	2	0	FASN	77637513	1.000000	0.71417	0.945000	0.38365	0.137000	0.21094	3.599000	0.54045	2.245000	0.73994	0.491000	0.48974	CCT		PASS	0.662	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		4	7	4	7	---	---	---	---
KCTD1	284252	broad.mit.edu	37	18	24035721	24035721	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr18:24035721C>T	ENST00000408011.3	-	5	1319	c.760G>A	c.(760-762)Gag>Aag	p.E254K	KCTD1_ENST00000579973.1_Missense_Mutation_p.E254K|KCTD1_ENST00000580059.1_Missense_Mutation_p.E254K|KCTD1_ENST00000317932.7_Missense_Mutation_p.E254K|KCTD1_ENST00000417602.1_Missense_Mutation_p.E862K	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	254					negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.E254K(1)|p.E862K(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			TCCAGAGGCTCTTGCTTTATC	0.498																																						uc002kvw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(760-762)GAG>AAG		potassium channel tetramerisation domain							105.0	103.0	104.0					18																	24035721		2203	4300	6503	SO:0001583	missense	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24035721C>T	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.760G>A	18.37:g.24035721C>T	ENSP00000384367:p.Glu254Lys					KCTD1_uc010xbj.1_Missense_Mutation_p.E862K|KCTD1_uc010xbk.1_Missense_Mutation_p.E254K|KCTD1_uc002kvy.2_3'UTR	p.E254K	NM_001136205	NP_001129677	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		5	1320	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		254					A8K1F5	Missense_Mutation	SNP	ENST00000408011.3	37	c.760G>A	CCDS11888.1	.	.	.	.	.	.	.	.	.	.	C	36	5.637676	0.96693	.	.	ENSG00000134504	ENST00000317932;ENST00000417602;ENST00000408011	T;D;T	0.84660	-1.05;-1.88;-1.05	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.88826	0.6542	L	0.56769	1.78	0.80722	D	1	D	0.59767	0.986	P	0.52031	0.688	D	0.89014	0.3430	10	0.72032	D	0.01	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	254	Q719H9	KCTD1_HUMAN	K	254;862;254	ENSP00000314831:E254K;ENSP00000408405:E862K;ENSP00000384367:E254K	ENSP00000314831:E254K	E	-	1	0	KCTD1	22289719	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.320000	0.79064	2.837000	0.97791	0.591000	0.81541	GAG		PASS	0.498	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		167	107	167	107	---	---	---	---
MYO5B	4645	broad.mit.edu	37	18	47431074	47431074	+	Missense_Mutation	SNP	G	G	A	rs368836963		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr18:47431074G>A	ENST00000285039.7	-	20	2838	c.2539C>T	c.(2539-2541)Cgg>Tgg	p.R847W	MYO5B_ENST00000324581.6_5'Flank	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	847	Arg-rich.|IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.|IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.R847W(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AACATGGCCCGGGTGAAGGCC	0.587													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17552	0.0		0.0	False		,,,				2504	0.0					uc002leb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2539-2541)CGG>TGG		myosin VB		G	TRP/ARG	1,3899		0,1,1949	50.0	56.0	54.0		2539	2.3	0.3	18		54	0,8278		0,0,4139	no	missense	MYO5B	NM_001080467.2	101	0,1,6088	AA,AG,GG		0.0,0.0256,0.0082	probably-damaging	847/1849	47431074	1,12177	1950	4139	6089	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47431074G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2539C>T	18.37:g.47431074G>A	ENSP00000285039:p.Arg847Trp					MYO5B_uc002lea.2_5'Flank	p.R847W	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	20	2827	-			847			IQ 3.|Arg-rich.|IQ 4.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.2539C>T	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807535	0.70797	2.56E-4	0.0	ENSG00000167306	ENST00000285039	T	0.75050	-0.9	5.26	2.35	0.29111	.	0.000000	0.64402	D	0.000001	D	0.90621	0.7059	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92220	0.5783	10	0.87932	D	0	.	13.9107	0.63864	0.0:0.0:0.6034:0.3966	.	847	Q9ULV0	MYO5B_HUMAN	W	847	ENSP00000285039:R847W	ENSP00000285039:R847W	R	-	1	2	MYO5B	45685072	0.988000	0.35896	0.267000	0.24556	0.944000	0.59088	2.051000	0.41307	0.160000	0.19432	0.655000	0.94253	CGG		PASS	0.587	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			4	44	4	44	---	---	---	---
ST8SIA3	51046	broad.mit.edu	37	18	55020255	55020255	+	Splice_Site	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr18:55020255C>A	ENST00000324000.3	+	1	2212	c.178C>A	c.(178-180)Cgg>Agg	p.R60R		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	60					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|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.R60R(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CGCGGGATTCCGGTGAGTGCG	0.597																																						uc002lgn.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(178-180)CGG>AGG		ST8 alpha-N-acetyl-neuraminide							46.0	49.0	48.0					18																	55020255		2203	4300	6503	SO:0001630	splice_region_variant	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55020255C>A	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.179+1C>A	18.37:g.55020255C>A							p.R60R	NM_015879	NP_056963	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	1	535	+			60			Lumenal (Potential).		A8K0F2|Q6B085|Q9NS41	Silent	SNP	ENST00000324000.3	37	c.178C>A	CCDS32834.1																																																																																				PASS	0.597	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879	Silent	3	16	3	16	---	---	---	---
NETO1	81832	broad.mit.edu	37	18	70417720	70417720	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr18:70417720A>T	ENST00000327305.6	-	9	1775	c.1118T>A	c.(1117-1119)gTc>gAc	p.V373D	NETO1_ENST00000583169.1_Missense_Mutation_p.V373D|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000299430.2_Missense_Mutation_p.V372D	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	373					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.V373D(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)		TTTCCTTTGGACATACTTTTT	0.453																																						uc002lkw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1117-1119)GTC>GAC		neuropilin- and tolloid-like protein 1 isoform 3							99.0	89.0	92.0					18																	70417720		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.chr18:70417720A>T	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.1118T>A	18.37:g.70417720A>T	ENSP00000313088:p.Val373Asp					NETO1_uc002lkx.1_Missense_Mutation_p.V372D|NETO1_uc002lky.1_Missense_Mutation_p.V373D	p.V373D	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	1402	-		Esophageal squamous(42;0.129)	373			Cytoplasmic (Potential).		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.1118T>A	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.438106	0.83885	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.40476	1.03;1.03	5.23	5.23	0.72850	.	0.110349	0.38548	N	0.001656	T	0.49064	0.1535	L	0.43152	1.355	0.80722	D	1	D;D	0.55605	0.969;0.972	P;P	0.52710	0.681;0.707	T	0.52697	-0.8541	10	0.87932	D	0	-30.3352	15.425	0.75043	1.0:0.0:0.0:0.0	.	372;373	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	D	373;372	ENSP00000313088:V373D;ENSP00000299430:V372D	ENSP00000299430:V372D	V	-	2	0	NETO1	68568700	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	9.283000	0.95860	2.097000	0.63578	0.374000	0.22700	GTC		PASS	0.453	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		8	43	8	43	---	---	---	---
PLPPR3	79948	broad.mit.edu	37	19	814740	814740	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr19:814740G>T	ENST00000520876.3	-	6	687	c.609C>A	c.(607-609)ttC>ttA	p.F203L	MIR3187_ENST00000583431.1_RNA|LPPR3_ENST00000359894.2_Missense_Mutation_p.F203L	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		203						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)	p.F203L(1)									GCTGGGACGGGAAGGTCTTCC	0.672																																						uc002lpx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(607-609)TTC>TTA		plasticity-related protein 2							42.0	34.0	37.0					19																	814740		2188	4298	6486	SO:0001583	missense	79948					integral to membrane	phosphatidate phosphatase activity	g.chr19:814740G>T																												ENST00000520876.3:c.609C>A	19.37:g.814740G>T	ENSP00000430297:p.Phe203Leu					LPPR3_uc010dru.1_Missense_Mutation_p.F115L|LPPR3_uc002lpw.1_Missense_Mutation_p.F203L|LPPR3_uc002lpy.1_5'UTR	p.F203L	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN			6	673	-			203					Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	ENST00000520876.3	37	c.609C>A	CCDS58636.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.7|29.7	5.028602|5.028602	0.93518|0.93518	.|.	.|.	ENSG00000129951|ENSG00000129951	ENST00000300947;ENST00000359894;ENST00000520876|ENST00000517665;ENST00000521445	D;D|.	0.86694|.	-2.16;-2.16|.	4.77|4.77	4.77|4.77	0.60923|0.60923	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78426|0.78426	0.4281|0.4281	M|M	0.85945|0.85945	2.785|2.785	0.54753|0.54753	D|D	0.999981|0.999981	D;D;D|.	0.63880|.	0.991;0.993;0.989|.	D;D;P|.	0.70935|.	0.951;0.971;0.833|.	T|T	0.81547|0.81547	-0.0883|-0.0883	10|5	0.87932|.	D|.	0|.	-1.3187|-1.3187	14.9274|14.9274	0.70890|0.70890	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	204;203;203|.	Q6T4P5-2;Q6T4P5;Q6T4P5-3|.	.;LPPR3_HUMAN;.|.	L|T	204;203;203|4;153	ENSP00000352962:F203L;ENSP00000430297:F203L|.	ENSP00000300947:F204L|.	F|P	-|-	3|1	2|0	AC006273.1|AC006273.1	765740|765740	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	2.823000|2.823000	0.48081|0.48081	2.195000|2.195000	0.70347|0.70347	0.555000|0.555000	0.69702|0.69702	TTC|CCC		PASS	0.672	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3			10	7	10	7	---	---	---	---
TYK2	7297	broad.mit.edu	37	19	10476261	10476261	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr19:10476261C>T	ENST00000525621.1	-	7	1424	c.943G>A	c.(943-945)Gag>Aag	p.E315K	TYK2_ENST00000264818.6_Missense_Mutation_p.E315K|TYK2_ENST00000524462.1_Missense_Mutation_p.E130K|TYK2_ENST00000529370.1_Missense_Mutation_p.E315K	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	315	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.E315K(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			ACCAGCACCTCGTGGGTTGGG	0.682																																						uc002moc.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.(943-945)GAG>AAG		tyrosine kinase 2							46.0	55.0	52.0					19																	10476261		2203	4299	6502	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10476261C>T		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.943G>A	19.37:g.10476261C>T	ENSP00000431885:p.Glu315Lys					TYK2_uc010dxe.2_Missense_Mutation_p.E130K|TYK2_uc002mod.2_Missense_Mutation_p.E315K	p.E315K	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		7	1321	-			315			FERM.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.943G>A	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225131	0.79576	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	T;T;T;D	0.84146	-1.25;-1.22;-1.22;-1.81	5.18	5.18	0.71444	FERM domain (1);	0.241129	0.28176	N	0.016303	D	0.89223	0.6654	M	0.67397	2.05	0.51012	D	0.999903	D;D	0.76494	0.999;0.989	P;P	0.59546	0.859;0.728	D	0.89477	0.3747	10	0.56958	D	0.05	-36.6685	12.0181	0.53326	0.0:0.8257:0.1743:0.0	.	315;315	E9PPF2;P29597	.;TYK2_HUMAN	K	130;315;315;62;315	ENSP00000433203:E130K;ENSP00000431885:E315K;ENSP00000264818:E315K;ENSP00000432728:E315K	ENSP00000264818:E315K	E	-	1	0	TYK2	10337261	0.946000	0.32159	0.979000	0.43373	0.483000	0.33249	2.044000	0.41241	2.422000	0.82143	0.561000	0.74099	GAG		PASS	0.682	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			4	51	4	51	---	---	---	---
QTRT1	81890	broad.mit.edu	37	19	10822892	10822892	+	Silent	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr19:10822892G>A	ENST00000250237.5	+	6	712	c.702G>A	c.(700-702)gaG>gaA	p.E234E		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	234					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)	p.E234E(1)		large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			GCGGGGGTGAGAGCAAGTCGC	0.617																																						uc002mpr.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(700-702)GAG>GAA		queuine tRNA-ribosyltransferase 1							58.0	62.0	61.0					19																	10822892		2203	4300	6503	SO:0001819	synonymous_variant	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10822892G>A	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.702G>A	19.37:g.10822892G>A						DNM2_uc010dxk.2_5'Flank	p.E234E	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		6	727	+			234					B4DFM7|Q96BQ4|Q9BXQ9	Silent	SNP	ENST00000250237.5	37	c.702G>A	CCDS12248.1																																																																																				PASS	0.617	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		14	41	14	41	---	---	---	---
TNPO2	30000	broad.mit.edu	37	19	12813658	12813658	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr19:12813658T>C	ENST00000592287.1	-	20	2392	c.2284A>G	c.(2284-2286)Aag>Gag	p.K762E	TNPO2_ENST00000441499.1_Missense_Mutation_p.K762E|TNPO2_ENST00000450764.2_Missense_Mutation_p.K762E|TNPO2_ENST00000425528.1_Missense_Mutation_p.K762E|TNPO2_ENST00000588216.1_Missense_Mutation_p.K762E|TNPO2_ENST00000356861.5_Missense_Mutation_p.K762E	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	762					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)	p.K762E(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCAGTGTCTTGGGTGTGTTG	0.607																																						uc002muo.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2284-2286)AAG>GAG		transportin 2 (importin 3, karyopherin beta 2b)							229.0	251.0	244.0					19																	12813658		2042	4194	6236	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12813658T>C	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.2284A>G	19.37:g.12813658T>C	ENSP00000468434:p.Lys762Glu					TNPO2_uc002mup.2_Missense_Mutation_p.K854E|TNPO2_uc002muq.2_Missense_Mutation_p.K762E|TNPO2_uc002mur.2_Missense_Mutation_p.K762E	p.K762E	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN			20	2469	-			762			HEAT 13.		O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.2284A>G	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	T	35	5.470639	0.96274	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58075	0.2097	M	0.83852	2.665	0.80722	D	1	P;P	0.45672	0.86;0.864	P;B	0.48738	0.588;0.407	T	0.65249	-0.6214	10	0.87932	D	0	-40.7503	15.3339	0.74234	0.0:0.0:0.0:1.0	.	926;762	Q4LE60;O14787	.;TNPO2_HUMAN	E	926;762;762;762;762	ENSP00000407182:K762E;ENSP00000389648:K762E;ENSP00000397379:K762E;ENSP00000349321:K762E	ENSP00000349321:K762E	K	-	1	0	TNPO2	12674658	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.641000	0.83368	2.252000	0.74401	0.533000	0.62120	AAG		PASS	0.607	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		35	108	35	108	---	---	---	---
NFIX	4784	broad.mit.edu	37	19	13136140	13136140	+	Silent	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr19:13136140G>A	ENST00000592199.1	+	2	333	c.333G>A	c.(331-333)aaG>aaA	p.K111K	NFIX_ENST00000587760.1_Silent_p.K103K|NFIX_ENST00000358552.3_Silent_p.K110K|NFIX_ENST00000587260.1_Silent_p.K110K|NFIX_ENST00000585575.1_Silent_p.K103K|NFIX_ENST00000397661.2_Silent_p.K111K|NFIX_ENST00000588228.1_Silent_p.K64K|NFIX_ENST00000360105.4_Silent_p.K114K			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	111					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K111K(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CCGACCAGAAGGGCAAGATCC	0.617																																						uc010xmx.1																			2	Substitution - coding silent(2)		lung(2)	breast(1)|skin(1)	2						c.(355-357)AAG>AAA		RecName: Full=Nuclear factor 1;							47.0	47.0	47.0					19																	13136140		2203	4300	6503	SO:0001819	synonymous_variant	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13136140G>A	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.333G>A	19.37:g.13136140G>A						NFIX_uc002mwd.2_Silent_p.K111K|NFIX_uc002mwe.2_Silent_p.K103K|NFIX_uc002mwf.2_Silent_p.K114K|NFIX_uc002mwg.1_Silent_p.K110K	p.K119K			Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		2	410	+			111			CTF/NF-I.		B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Silent	SNP	ENST00000592199.1	37	c.357G>A																																																																																					PASS	0.617	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		17	20	17	20	---	---	---	---
LPHN1	22859	broad.mit.edu	37	19	14263176	14263176	+	Silent	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr19:14263176G>A	ENST00000340736.6	-	22	3906	c.3609C>T	c.(3607-3609)ctC>ctT	p.L1203L	LPHN1_ENST00000361434.3_Silent_p.L1198L|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1203					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.L1203L(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTCGGCGATGAGGGTGTTGT	0.612																																						uc010xnn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(1)	5						c.(3607-3609)CTC>CTT		latrophilin 1 isoform 1 precursor							101.0	107.0	105.0					19																	14263176		2203	4300	6503	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14263176G>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3609C>T	19.37:g.14263176G>A						LPHN1_uc010xno.1_Silent_p.L1198L|uc002myf.2_Intron	p.L1203L	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			22	3905	-			1203			Cytoplasmic (Potential).		Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.3609C>T	CCDS32928.1																																																																																				PASS	0.612	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		8	60	8	60	---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15303038	15303038	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr19:15303038G>T	ENST00000263388.2	-	4	487	c.412C>A	c.(412-414)Ccc>Acc	p.P138T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	138	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.P138T(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)			CGTCCATCGGGCCCCACTGAG	0.687																																						uc002nan.2																			2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(412-414)CCC>ACC		Notch homolog 3 precursor							21.0	23.0	22.0					19																	15303038		2197	4294	6491	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.chr19:15303038G>T	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.412C>A	19.37:g.15303038G>T	ENSP00000263388:p.Pro138Thr					NOTCH3_uc002nao.1_Missense_Mutation_p.P138T	p.P138T	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)		4	488	-			138			Extracellular (Potential).|EGF-like 3.		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.412C>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	g	2.657	-0.280700	0.05642	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.91295	-2.82	5.02	-4.16	0.03869	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.71151	0.3306	N	0.04162	-0.26	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.14023	0.004;0.01	T	0.60530	-0.7245	9	0.17832	T	0.49	.	1.4738	0.02421	0.4107:0.1388:0.3114:0.1391	.	141;138	Q59FL3;Q9UM47	.;NOTC3_HUMAN	T	138;140	ENSP00000263388:P138T	ENSP00000263388:P138T	P	-	1	0	NOTCH3	15164038	0.009000	0.17119	0.022000	0.16811	0.541000	0.35023	1.132000	0.31418	-0.657000	0.05373	-0.308000	0.09152	CCC		PASS	0.687	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		3	7	3	7	---	---	---	---
COLGALT1	79709	broad.mit.edu	37	19	17691562	17691562	+	Silent	SNP	C	C	T	rs370763953		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr19:17691562C>T	ENST00000252599.4	+	11	1569	c.1449C>T	c.(1447-1449)cgC>cgT	p.R483R		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	483					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)	p.R483R(1)									CTGTGCCTCGCGTGAGGAACC	0.657																																						uc002nhc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1447-1449)CGC>CGT		glycosyltransferase 25 domain containing 1		C		0,4406		0,0,2203	73.0	65.0	68.0		1449	-9.4	0.3	19		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GLT25D1	NM_024656.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		483/623	17691562	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79709				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr19:17691562C>T	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1449C>T	19.37:g.17691562C>T						GLT25D1_uc010eax.1_Silent_p.R211R|GLT25D1_uc010eay.1_Silent_p.R12R	p.R483R	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN			11	1461	+			483					Q8NC64	Silent	SNP	ENST00000252599.4	37	c.1449C>T	CCDS12363.1																																																																																				PASS	0.657	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		15	20	15	20	---	---	---	---
COLGALT1	79709	broad.mit.edu	37	19	17692173	17692173	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr19:17692173C>T	ENST00000252599.4	+	12	1909	c.1789C>T	c.(1789-1791)Cag>Tag	p.Q597*		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	597					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)	p.Q597*(1)									GATGCGGGAGCAGCAGGCACT	0.602																																						uc002nhc.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1789-1791)CAG>TAG		glycosyltransferase 25 domain containing 1							87.0	74.0	78.0					19																	17692173		2203	4300	6503	SO:0001587	stop_gained	79709				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr19:17692173C>T	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1789C>T	19.37:g.17692173C>T	ENSP00000252599:p.Gln597*					GLT25D1_uc010eay.1_Nonsense_Mutation_p.Q126*	p.Q597*	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN			12	1801	+			597					Q8NC64	Nonsense_Mutation	SNP	ENST00000252599.4	37	c.1789C>T	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	C	38	6.677227	0.97755	.	.	ENSG00000130309	ENST00000252599	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-28.0224	15.6857	0.77409	0.0:1.0:0.0:0.0	.	.	.	.	X	597	.	ENSP00000252599:Q597X	Q	+	1	0	GLT25D1	17553173	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	4.698000	0.61789	2.298000	0.77334	0.313000	0.20887	CAG		PASS	0.602	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		17	40	17	40	---	---	---	---
GPATCH1	55094	broad.mit.edu	37	19	33592443	33592443	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr19:33592443G>A	ENST00000170564.2	+	9	1357	c.1043G>A	c.(1042-1044)gGa>gAa	p.G348E		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	348					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.G348E(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					ATTTTGGATGGATTTTCCTTG	0.303																																					Pancreas(67;88 1713 4567 18227)	uc002nug.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1042-1044)GGA>GAA		G patch domain containing 1							142.0	136.0	138.0					19																	33592443		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33592443G>A	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1043G>A	19.37:g.33592443G>A	ENSP00000170564:p.Gly348Glu						p.G348E	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			9	1357	+	Esophageal squamous(110;0.137)		348					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.1043G>A	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298565	0.81025	.	.	ENSG00000076650	ENST00000170564	T	0.37915	1.17	5.94	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.62295	0.2416	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.67522	-0.5649	10	0.56958	D	0.05	-23.7293	15.446	0.75232	0.0:0.0:0.8602:0.1398	.	348	Q9BRR8	GPTC1_HUMAN	E	348	ENSP00000170564:G348E	ENSP00000170564:G348E	G	+	2	0	GPATCH1	38284283	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.905000	0.69893	1.481000	0.48307	0.643000	0.83706	GGA		PASS	0.303	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		7	63	7	63	---	---	---	---
NPHS1	4868	broad.mit.edu	37	19	36333109	36333109	+	Silent	SNP	G	G	A	rs545068152		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr19:36333109G>A	ENST00000378910.5	-	19	2579	c.2580C>T	c.(2578-2580)acC>acT	p.T860T	NPHS1_ENST00000353632.6_Silent_p.T860T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	860	Ig-like C2-type 8.				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.T860T(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)			GGCAGTGGAGGGTGGCAGAAC	0.607																																						uc002oby.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(2578-2580)ACC>ACT		nephrin precursor							25.0	24.0	24.0					19																	36333109		2203	4300	6503	SO:0001819	synonymous_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36333109G>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2580C>T	19.37:g.36333109G>A						NPHS1_uc010eem.1_5'Flank	p.T860T	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		19	2580	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		860			Ig-like C2-type 8.|Extracellular (Potential).		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	c.2580C>T	CCDS32996.1																																																																																				PASS	0.607	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			6	7	6	7	---	---	---	---
ZNF585A	199704	broad.mit.edu	37	19	37644505	37644505	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr19:37644505T>A	ENST00000356958.4	-	5	554	c.296A>T	c.(295-297)gAg>gTg	p.E99V	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Missense_Mutation_p.E44V|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E44V|ZNF585A_ENST00000292841.5_Missense_Mutation_p.E44V			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	99					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E44V(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCATAATTTCTCTCCTGTTGG	0.313																																						uc002ofo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(295-297)GAG>GTG		zinc finger protein 585A							101.0	106.0	105.0					19																	37644505		2202	4296	6498	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37644505T>A	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.296A>T	19.37:g.37644505T>A	ENSP00000349440:p.Glu99Val					ZNF585A_uc002ofm.1_Missense_Mutation_p.E44V|ZNF585A_uc002ofn.1_Missense_Mutation_p.E44V	p.E99V	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	527	-			99					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.296A>T		.	.	.	.	.	.	.	.	.	.	T	18.92	3.725626	0.68959	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.08984	3.13;3.16;3.16;3.03	3.76	2.69	0.31865	.	0.476684	0.15594	U	0.254279	T	0.24275	0.0588	M	0.75884	2.315	0.35255	D	0.77902	D	0.76494	0.999	D	0.68621	0.959	T	0.18272	-1.0342	10	0.66056	D	0.02	.	8.5095	0.33208	0.1739:0.0:0.0:0.8261	.	99	Q6P3V2	Z585A_HUMAN	V	99;44;44;44	ENSP00000349440:E99V;ENSP00000292841:E44V;ENSP00000375998:E44V;ENSP00000347724:E44V	ENSP00000292841:E44V	E	-	2	0	ZNF585A	42336345	0.424000	0.25490	0.955000	0.39395	0.098000	0.18820	2.830000	0.48136	0.568000	0.29311	0.533000	0.62120	GAG		PASS	0.313	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		15	137	15	137	---	---	---	---
CYP2A13	1553	broad.mit.edu	37	19	41597756	41597756	+	Silent	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr19:41597756G>T	ENST00000330436.3	+	5	774	c.774G>T	c.(772-774)acG>acT	p.T258T		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	258					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.T258T(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	ACCAGCGCACGCTGGATCCCA	0.587																																						uc002opt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(772-774)ACG>ACT		cytochrome P450, family 2, subfamily A,	Clomipramine(DB01242)|Nicotine(DB00184)						166.0	127.0	140.0					19																	41597756		2203	4300	6503	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41597756G>T	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.774G>T	19.37:g.41597756G>T							p.T258T	NM_000766	NP_000757	Q16696	CP2AD_HUMAN			5	783	+			258					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.774G>T	CCDS12571.1																																																																																				PASS	0.587	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		28	20	28	20	---	---	---	---
ZNF180	7733	broad.mit.edu	37	19	44981071	44981071	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr19:44981071G>C	ENST00000221327.4	-	5	1908	c.1627C>G	c.(1627-1629)Cac>Gac	p.H543D	ZNF180_ENST00000592529.1_Missense_Mutation_p.H516D|ZNF180_ENST00000391956.4_Missense_Mutation_p.H518D|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	543					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.H543D(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TCTCCAGTGTGAGTTCTTTGA	0.428																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	uc002ozf.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1627-1629)CAC>GAC		zinc finger protein 180							76.0	77.0	77.0					19																	44981071		2203	4300	6503	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981071G>C	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1627C>G	19.37:g.44981071G>C	ENSP00000221327:p.His543Asp					ZNF180_uc002ozh.3_Missense_Mutation_p.H200D|ZNF180_uc002ozi.3_Missense_Mutation_p.H516D|ZNF180_uc002ozg.3_Missense_Mutation_p.H542D|ZNF180_uc010ejm.2_Missense_Mutation_p.H518D	p.H543D	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN			5	1909	-		Prostate(69;0.0435)	543			C2H2-type 7.		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.1627C>G	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991635	0.74703	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.67698	-0.28;-0.28	5.23	5.23	0.72850	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000466	D	0.87071	0.6086	H	0.94462	3.54	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.90755	0.4660	10	0.87932	D	0	-11.5972	17.5659	0.87919	0.0:0.0:1.0:0.0	.	518;542;543	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	D	543;518	ENSP00000221327:H543D;ENSP00000375818:H518D	ENSP00000221327:H543D	H	-	1	0	ZNF180	49672911	1.000000	0.71417	0.991000	0.47740	0.979000	0.70002	9.123000	0.94387	2.437000	0.82529	0.467000	0.42956	CAC		PASS	0.428	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		6	83	6	83	---	---	---	---
ZSCAN4	201516	broad.mit.edu	37	19	58189579	58189579	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr19:58189579C>A	ENST00000318203.5	+	5	1305	c.608C>A	c.(607-609)aCt>aAt	p.T203N		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	203					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.T203N(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)		TCGAAAACTACTCGAGTAAAT	0.393																																						uc002qpu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(607-609)ACT>AAT		zinc finger and SCAN domain containing 4							67.0	66.0	66.0					19																	58189579		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.chr19:58189579C>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.608C>A	19.37:g.58189579C>A	ENSP00000321963:p.Thr203Asn						p.T203N	NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1305	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	203					Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.608C>A	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126757	0.37533	.	.	ENSG00000180532	ENST00000318203	T	0.07216	3.21	4.64	-0.507	0.11985	.	1.876330	0.02625	N	0.103635	T	0.06050	0.0157	N	0.19112	0.55	0.09310	N	1	B	0.25235	0.121	B	0.17722	0.019	T	0.37865	-0.9687	10	0.17369	T	0.5	-2.8671	8.2265	0.31572	0.2896:0.5545:0.1559:0.0	.	203	Q8NAM6	ZSCA4_HUMAN	N	203	ENSP00000321963:T203N	ENSP00000321963:T203N	T	+	2	0	ZSCAN4	62881391	0.034000	0.19679	0.000000	0.03702	0.168000	0.22595	1.459000	0.35234	-0.069000	0.12931	0.655000	0.94253	ACT		PASS	0.393	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		3	32	3	32	---	---	---	---
MYL9	10398	broad.mit.edu	37	20	35177629	35177629	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr20:35177629G>T	ENST00000279022.2	+	4	600	c.496G>T	c.(496-498)Ggc>Tgc	p.G166C	RP5-977B1.11_ENST00000561134.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|MYL9_ENST00000346786.2_Missense_Mutation_p.G112C|RP5-977B1.7_ENST00000425233.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	166	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.G166C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCTCAAACATGGCGCCAAGGA	0.602																																						uc002xfl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(496-498)GGC>TGC		myosin regulatory light chain 9 isoform a							88.0	75.0	79.0					20																	35177629		2203	4300	6503	SO:0001583	missense	10398				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr20:35177629G>T	J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"""Myosins / Light chain"", ""EF-hand domain containing"""	15754	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2, smooth muscle isoform"", ""myosin regulatory light chain 1"""	609905	"""myosin, light polypeptide 9, regulatory"""			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.496G>T	20.37:g.35177629G>T	ENSP00000279022:p.Gly166Cys					uc002xfk.3_Intron|MYL9_uc002xfm.1_Missense_Mutation_p.G112C	p.G166C	NM_006097	NP_006088	P24844	MYL9_HUMAN			4	590	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	166			EF-hand 3.		E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Missense_Mutation	SNP	ENST00000279022.2	37	c.496G>T	CCDS13276.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438502	0.83885	.	.	ENSG00000101335	ENST00000279022;ENST00000346786	T;T	0.76968	-1.06;-0.65	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.91446	0.7300	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.984	D	0.94127	0.7385	10	0.87932	D	0	.	16.2593	0.82532	0.0:0.0:1.0:0.0	.	112;166	Q9BUF9;P24844	.;MYL9_HUMAN	C	166;112	ENSP00000279022:G166C;ENSP00000217313:G112C	ENSP00000279022:G166C	G	+	1	0	MYL9	34611043	1.000000	0.71417	0.941000	0.38009	0.764000	0.43329	9.705000	0.98719	2.247000	0.74100	0.655000	0.94253	GGC		PASS	0.602	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	NM_006097		5	35	5	35	---	---	---	---
GTSF1L	149699	broad.mit.edu	37	20	42355044	42355044	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr20:42355044G>T	ENST00000373003.1	-	1	594	c.291C>A	c.(289-291)tgC>tgA	p.C97*	GTSF1L_ENST00000373005.2_Intron	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	97							metal ion binding (GO:0046872)	p.C97*(1)		endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGCTGGGAAGGCAGGGTGAGA	0.493																																						uc002xld.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(289-291)TGC>TGA		gametocyte specific factor 1-like isoform 1							121.0	103.0	109.0					20																	42355044		2203	4300	6503	SO:0001587	stop_gained	149699						metal ion binding	g.chr20:42355044G>T	AK058060	CCDS13323.1, CCDS33471.1	20q13.12	2007-11-27	2007-11-27	2007-11-27	ENSG00000124196	ENSG00000124196			16198	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 65"", ""family with sequence similarity 112, member A"""	C20orf65, FAM112A			Standard	NM_176791		Approved	dJ1028D15.4	uc002xld.3	Q9H1H1	OTTHUMG00000032510	ENST00000373003.1:c.291C>A	20.37:g.42355044G>T	ENSP00000362094:p.Cys97*					GTSF1L_uc002xlc.2_Intron	p.C97*	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		1	599	-		Myeloproliferative disorder(115;0.00452)	97					Q5JWH5	Nonsense_Mutation	SNP	ENST00000373003.1	37	c.291C>A	CCDS13323.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809021	0.70797	.	.	ENSG00000124196	ENST00000373003	.	.	.	3.95	-1.94	0.07571	.	21.846000	0.00357	N	0.000020	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-18.8193	7.0782	0.25217	0.4379:0.2659:0.2962:0.0	.	.	.	.	X	97	.	ENSP00000362094:C97X	C	-	3	2	GTSF1L	41788458	0.064000	0.20934	0.008000	0.14137	0.034000	0.12701	-0.094000	0.11094	-0.287000	0.09064	-0.687000	0.03738	TGC		PASS	0.493	GTSF1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079313.1	NM_176791		14	36	14	36	---	---	---	---
FAM65C	140876	broad.mit.edu	37	20	49218870	49218870	+	Silent	SNP	C	C	A	rs78064464	byFrequency	TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr20:49218870C>A	ENST00000327979.2	-	13	1797	c.1386G>T	c.(1384-1386)ccG>ccT	p.P462P	FAM65C_ENST00000535356.1_Silent_p.P466P|FAM65C_ENST00000045083.2_Silent_p.P462P			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	462								p.P462P(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTCTGCAAACGGGCCTCCAG	0.662																																						uc002xvm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1384-1386)CCG>CCT		hypothetical protein LOC140876							22.0	23.0	22.0					20																	49218870		2202	4297	6499	SO:0001819	synonymous_variant	140876							g.chr20:49218870C>A	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.1386G>T	20.37:g.49218870C>A						FAM65C_uc010zyt.1_Silent_p.P466P|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Silent_p.P462P	p.P462P	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN			13	1704	-			462					Q5QPB6|Q9NQQ2	Silent	SNP	ENST00000327979.2	37	c.1386G>T	CCDS13431.2																																																																																				PASS	0.662	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			6	16	6	16	---	---	---	---
PHACTR3	116154	broad.mit.edu	37	20	58381249	58381249	+	Splice_Site	SNP	A	A	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr20:58381249A>C	ENST00000371015.1	+	8	1795	c.1328A>C	c.(1327-1329)aAa>aCa	p.K443T	PHACTR3_ENST00000541461.1_Splice_Site_p.K402T|PHACTR3_ENST00000359926.3_Splice_Site_p.K440T|PHACTR3_ENST00000355648.4_Splice_Site_p.K402T|PHACTR3_ENST00000395639.4_Splice_Site_p.K332T|PHACTR3_ENST00000361300.4_Splice_Site_p.K332T|PHACTR3_ENST00000395636.2_Splice_Site_p.K402T	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	443	Required for PP1CA binding and inhibition of PP1 activity.					nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.K443T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAGCTTTCCAAGTAAGTGGCA	0.592																																						uc002yau.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1327-1329)AAA>ACA		phosphatase and actin regulator 3 isoform 1							59.0	62.0	61.0					20																	58381249		2203	4300	6503	SO:0001630	splice_region_variant	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58381249A>C	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1328+1A>C	20.37:g.58381249A>C						PHACTR3_uc002yat.2_Missense_Mutation_p.K440T|PHACTR3_uc010zzw.1_Missense_Mutation_p.K402T|PHACTR3_uc002yav.2_Missense_Mutation_p.K402T|PHACTR3_uc002yaw.2_Missense_Mutation_p.K402T|PHACTR3_uc002yax.2_Missense_Mutation_p.K332T	p.K443T	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		8	1795	+	all_lung(29;0.00344)		443			RPEL 3.|Required for PP1CA binding and inhibition of PP1 activity.		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.1328A>C	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.126762	0.77549	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.32515	1.8;1.81;1.45;1.81;1.81;1.81;1.45	5.25	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.39009	0.1062	N	0.22421	0.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.994	T	0.25502	-1.0130	10	0.87932	D	0	-24.7788	10.2935	0.43610	0.9224:0.0:0.0776:0.0	.	332;443;440	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	T	440;443;332;402;402;402;332	ENSP00000353002:K440T;ENSP00000360054:K443T;ENSP00000379001:K332T;ENSP00000442483:K402T;ENSP00000347866:K402T;ENSP00000378998:K402T;ENSP00000354555:K332T	ENSP00000347866:K402T	K	+	2	0	PHACTR3	57814644	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.400000	0.66320	0.840000	0.34995	0.528000	0.53228	AAA		PASS	0.592	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672	Missense_Mutation	16	32	16	32	---	---	---	---
KRTAP6-1	337966	broad.mit.edu	37	21	31986059	31986059	+	Silent	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr21:31986059G>A	ENST00000329122.2	-	1	190	c.165C>T	c.(163-165)tcC>tcT	p.S55S	KRTAP20-1_ENST00000334664.2_5'Flank	NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	55						cytosol (GO:0005829)|intermediate filament (GO:0005882)		p.S55S(1)		breast(2)|endometrium(1)|lung(7)	10						AGCCACAGAGGGAGCGGGAGC	0.582																																						uc002yop.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(163-165)TCC>TCT		keratin associated protein 6-1							108.0	113.0	111.0					21																	31986059		2203	4300	6503	SO:0001819	synonymous_variant	337966					cytosol|intermediate filament		g.chr21:31986059G>A	AP001708	CCDS13602.1	21q22.1	2006-03-13			ENSG00000184724	ENSG00000184724		"""Keratin associated proteins"""	18931	protein-coding gene	gene with protein product						12359730	Standard	NM_181602		Approved	KAP6.1, C21orf103	uc002yop.3	Q3LI64	OTTHUMG00000057788	ENST00000329122.2:c.165C>T	21.37:g.31986059G>A						KRTAP20-1_uc011ade.1_5'Flank	p.S55S	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN			1	165	-			55						Silent	SNP	ENST00000329122.2	37	c.165C>T	CCDS13602.1																																																																																				PASS	0.582	KRTAP6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128240.2	NM_181602		25	31	25	31	---	---	---	---
KRTAP10-3	386682	broad.mit.edu	37	21	45978072	45978072	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr21:45978072G>C	ENST00000391620.1	-	1	571	c.527C>G	c.(526-528)tCc>tGc	p.S176C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	176	18 X 5 AA repeats of C-C-X(3).			Missing (in Ref. 3; AAI33678). {ECO:0000305}.		keratin filament (GO:0045095)		p.S176C(1)		kidney(1)|lung(4)|prostate(1)|skin(1)	7						GGCACAGCAGGAGGGGATGGG	0.721																																						uc002zfj.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(526-528)TCC>TGC		keratin associated protein 10-3							49.0	58.0	55.0					21																	45978072		2203	4298	6501	SO:0001583	missense	386682					keratin filament		g.chr21:45978072G>C	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.527C>G	21.37:g.45978072G>C	ENSP00000375478:p.Ser176Cys					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.S176C	NM_198696	NP_941969	P60369	KR103_HUMAN			1	572	-			176	Missing (in Ref. 3; AAI33678).		18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	c.527C>G	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	g	2.698	-0.271534	0.05716	.	.	ENSG00000212935	ENST00000391620	T	0.01572	4.76	3.21	2.21	0.28008	.	.	.	.	.	T	0.02767	0.0083	M	0.62723	1.935	0.09310	N	0.999997	B	0.14805	0.011	B	0.15052	0.012	T	0.31081	-0.9956	9	0.30078	T	0.28	.	10.0357	0.42127	0.0:0.2081:0.7919:0.0	.	176	P60369	KR103_HUMAN	C	176	ENSP00000375478:S176C	ENSP00000375478:S176C	S	-	2	0	KRTAP10-3	44802500	1.000000	0.71417	0.163000	0.22734	0.023000	0.10783	0.763000	0.26517	1.789000	0.52484	0.561000	0.74099	TCC		PASS	0.721	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			3	40	3	40	---	---	---	---
KRTAP10-4	386672	broad.mit.edu	37	21	45994014	45994014	+	Missense_Mutation	SNP	C	C	T	rs374652360	byFrequency	TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr21:45994014C>T	ENST00000400374.3	+	1	409	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	127	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.P127S(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GTGCTGTGTGCCCGTCTGCTG	0.642													.|||	2	0.000399361	0.0	0.0	5008	,	,		25041	0.0		0.001	False		,,,				2504	0.001					uc002zfk.1																			2	Substitution - Missense(2)		lung(2)		0						c.(379-381)CCC>TCC		keratin associated protein 10-4							182.0	161.0	168.0					21																	45994014		2202	4298	6500	SO:0001583	missense	386672					keratin filament		g.chr21:45994014C>T	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.379C>T	21.37:g.45994014C>T	ENSP00000383225:p.Pro127Ser					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.P127S	NM_198687	NP_941960	P60372	KR104_HUMAN			1	409	+			127			36 X 5 AA repeats of C-C-X(3).|10.		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.379C>T	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	1.743	-0.491110	0.04322	.	.	ENSG00000215454	ENST00000400374	T	0.01745	4.66	3.55	-1.21	0.09524	.	.	.	.	.	T	0.01695	0.0054	L	0.39397	1.21	0.09310	N	1	B	0.24920	0.114	B	0.26094	0.066	T	0.46247	-0.9205	9	0.32370	T	0.25	.	4.0246	0.09682	0.1546:0.4865:0.0:0.3589	.	127	P60372	KR104_HUMAN	S	127	ENSP00000383225:P127S	ENSP00000383225:P127S	P	+	1	0	KRTAP10-4	44818442	0.017000	0.18338	0.000000	0.03702	0.002000	0.02628	1.608000	0.36847	-0.516000	0.06470	0.306000	0.20318	CCC		PASS	0.642	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		5	102	5	102	---	---	---	---
IGLV1-44	28823	broad.mit.edu	37	22	22735461	22735461	+	RNA	SNP	C	C	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr22:22735461C>T	ENST00000390297.2	+	0	212									immunoglobulin lambda variable 1-44																		TCTGGGACCCCCGGGCAGAGG	0.562																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							42.0	45.0	44.0					22																	22735461		1840	4073	5913			96610							g.chr22:22735461C>T	Z73654		22q11.2	2012-02-08			ENSG00000211651	ENSG00000211651		"""Immunoglobulins / IGL locus"""	5879	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151050		22.37:g.22735461C>T														46		+									RNA	SNP	ENST00000390297.2	37	c.5257C>T																																																																																					PASS	0.562	IGLV1-44-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321110.1	NG_000002		22	24	22	24	---	---	---	---
OSBP2	23762	broad.mit.edu	37	22	31289716	31289716	+	Missense_Mutation	SNP	G	G	A	rs548187834		TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chr22:31289716G>A	ENST00000332585.6	+	11	2290	c.2186G>A	c.(2185-2187)cGg>cAg	p.R729Q	OSBP2_ENST00000446658.2_Missense_Mutation_p.R728Q|OSBP2_ENST00000535268.1_Missense_Mutation_p.R273Q|OSBP2_ENST00000496575.1_3'UTR|OSBP2_ENST00000403222.3_Missense_Mutation_p.R563Q|OSBP2_ENST00000437268.2_Missense_Mutation_p.R471Q|OSBP2_ENST00000382310.3_Missense_Mutation_p.R680Q|OSBP2_ENST00000407373.1_Missense_Mutation_p.R556Q|OSBP2_ENST00000401475.1_Missense_Mutation_p.R362Q	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	729					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)	p.R729Q(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GAGGCAGCCCGGAAGGTAAGC	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		18711	0.0		0.0	False		,,,				2504	0.001					uc003aiy.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(2185-2187)CGG>CAG		oxysterol binding protein 2 isoform a							53.0	58.0	56.0					22																	31289716		2040	4195	6235	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31289716G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.2186G>A	22.37:g.31289716G>A	ENSP00000332576:p.Arg729Gln					OSBP2_uc011ala.1_Missense_Mutation_p.R563Q|OSBP2_uc010gwc.1_Missense_Mutation_p.R556Q|OSBP2_uc011alb.1_Missense_Mutation_p.R680Q|OSBP2_uc003aiz.1_Missense_Mutation_p.R728Q|OSBP2_uc003aja.1_Missense_Mutation_p.R362Q|OSBP2_uc011alc.1_Missense_Mutation_p.R471Q|OSBP2_uc003ajb.2_Missense_Mutation_p.R274Q|OSBP2_uc011ald.1_Missense_Mutation_p.R273Q|OSBP2_uc010gwd.1_Missense_Mutation_p.R274Q	p.R729Q	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN			11	2290	+			729					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.2186G>A	CCDS43002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.497973|5.497973	0.96355|0.96355	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000431368|ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000401475;ENST00000437268;ENST00000535268;ENST00000452656	.|T;T;T;T;T;T;T;T	.|0.30714	.|1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|0.069333	.|0.64402	.|D	.|0.000010	T|T	0.63581|0.63581	0.2523|0.2523	M|M	0.89287|0.89287	3.02|3.02	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|0.995;0.97;0.998;0.997;0.998;1.0;1.0	T|T	0.69551|0.69551	-0.5115|-0.5115	5|10	.|0.56958	.|D	.|0.05	-37.157|-37.157	18.335|18.335	0.90285|0.90285	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|471;680;563;471;556;728;729	.|F5H2A3;B4DFA8;B4DKE4;B4DK24;Q6ZN50;Q0VF99;Q969R2	.|.;.;.;.;.;.;OSBP2_HUMAN	R|Q	401|563;556;729;680;728;362;471;273;360	.|ENSP00000384213:R563Q;ENSP00000385237:R556Q;ENSP00000332576:R729Q;ENSP00000371747:R680Q;ENSP00000392080:R728Q;ENSP00000385254:R362Q;ENSP00000389200:R471Q;ENSP00000438713:R273Q	.|ENSP00000332576:R729Q	G|R	+|+	1|2	0|0	OSBP2|OSBP2	29619716|29619716	0.994000|0.994000	0.37717|0.37717	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	5.521000|5.521000	0.67086|0.67086	2.643000|2.643000	0.89663|0.89663	0.655000|0.655000	0.94253|0.94253	GGA|CGG		PASS	0.592	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		11	12	11	12	---	---	---	---
SUPT20HL1	100130302	broad.mit.edu	37	X	24382663	24382663	+	IGR	SNP	G	G	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chrX:24382663G>A								AC004552.1 (15640 upstream) : PDK3 (100674 downstream)														p.A601T(1)									CATAAAAATAGCGCCAGCCAT	0.572																																						uc011mjx.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1786-1788)GCG>ACG		hypothetical protein LOC100130302							24.0	23.0	23.0					X																	24382663		1568	3582	5150	SO:0001628	intergenic_variant	100130302							g.chrX:24382663G>A																													X.37:g.24382663G>A							p.A596T	NM_001136234	NP_001129706					1	1786	+									Missense_Mutation	SNP		37	c.1786G>A																																																																																				0	PASS	0.572									14	4	14	4	---	---	---	---
KIF4A	24137	broad.mit.edu	37	X	69595965	69595965	+	Silent	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chrX:69595965C>A	ENST00000374403.3	+	18	2021	c.1939C>A	c.(1939-1941)Cgg>Agg	p.R647R	KIF4A_ENST00000374388.3_Silent_p.R647R	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	647					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.R647R(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GAAAAACCAGCGGGTACAGTT	0.363																																						uc004dyg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1939-1941)CGG>AGG		kinesin family member 4							66.0	63.0	64.0					X																	69595965		2203	4300	6503	SO:0001819	synonymous_variant	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69595965C>A	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1939C>A	X.37:g.69595965C>A						KIF4A_uc010nkw.2_Silent_p.R647R|KIF4A_uc004dyf.1_Silent_p.R647R	p.R647R	NM_012310	NP_036442	O95239	KIF4A_HUMAN			18	2066	+			647			Potential.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Silent	SNP	ENST00000374403.3	37	c.1939C>A	CCDS14401.1																																																																																				PASS	0.363	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		20	6	20	6	---	---	---	---
POU3F4	5456	broad.mit.edu	37	X	82763715	82763715	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chrX:82763715G>T	ENST00000373200.2	+	1	447	c.383G>T	c.(382-384)gGc>gTc	p.G128V	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	128					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G128V(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						ACGTCAAGCGGCCAACCCCTC	0.667																																						uc004eeg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(382-384)GGC>GTC		POU domain, class 3, transcription factor 4							37.0	34.0	35.0					X																	82763715		2202	4300	6502	SO:0001583	missense	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82763715G>T	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.383G>T	X.37:g.82763715G>T	ENSP00000362296:p.Gly128Val						p.G128V	NM_000307	NP_000298	P49335	PO3F4_HUMAN			1	447	+			128					B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	c.383G>T	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562577	0.27915	.	.	ENSG00000196767	ENST00000373200	D	0.86164	-2.08	4.69	4.69	0.59074	.	0.349906	0.30036	N	0.010580	T	0.79650	0.4482	N	0.19112	0.55	0.58432	D	0.999999	B	0.21753	0.06	B	0.19946	0.027	T	0.76542	-0.2921	10	0.48119	T	0.1	.	15.6845	0.77400	0.0:0.0:1.0:0.0	.	128	P49335	PO3F4_HUMAN	V	128	ENSP00000362296:G128V	ENSP00000362296:G128V	G	+	2	0	POU3F4	82650371	1.000000	0.71417	0.987000	0.45799	0.654000	0.38779	4.033000	0.57282	2.303000	0.77524	0.525000	0.51046	GGC		PASS	0.667	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		3	13	3	13	---	---	---	---
KLHL4	56062	broad.mit.edu	37	X	86773098	86773098	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chrX:86773098C>A	ENST00000373119.4	+	1	347	c.202C>A	c.(202-204)Cct>Act	p.P68T	KLHL4_ENST00000373114.4_Missense_Mutation_p.P68T	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	68						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P68T(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						AAGCAACAGTCCTGTCCACCA	0.517																																						uc004efb.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(202-204)CCT>ACT		kelch-like 4 isoform 1							76.0	63.0	68.0					X																	86773098		2202	4300	6502	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86773098C>A	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.202C>A	X.37:g.86773098C>A	ENSP00000362211:p.Pro68Thr					KLHL4_uc004efa.2_Missense_Mutation_p.P68T	p.P68T	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			1	384	+			68					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.202C>A	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454510	0.43634	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.74842	-0.88;-0.85	5.05	4.19	0.49359	.	0.885989	0.09301	N	0.820891	T	0.75627	0.3875	M	0.74258	2.255	0.58432	D	0.999995	B;B	0.20261	0.043;0.014	B;B	0.23018	0.043;0.037	T	0.68708	-0.5337	10	0.54805	T	0.06	.	11.5789	0.50879	0.0:0.9125:0.0:0.0875	.	68;68	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	T	68	ENSP00000362211:P68T;ENSP00000362206:P68T	ENSP00000362206:P68T	P	+	1	0	KLHL4	86659754	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.130000	0.50508	1.115000	0.41800	0.513000	0.50165	CCT		PASS	0.517	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			15	12	15	12	---	---	---	---
TGIF2LX	90316	broad.mit.edu	37	X	89177805	89177805	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chrX:89177805C>A	ENST00000561129.2	+	1	851	c.721C>A	c.(721-723)Cca>Aca	p.P241T	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.P241T			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P241T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						AGAGCCTAATCCATGATTGAT	0.463																																						uc004efe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(721-723)CCA>ACA		TGFB-induced factor homeobox 2-like, X-linked							42.0	45.0	44.0					X																	89177805		2182	4258	6440	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177805C>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.721C>A	X.37:g.89177805C>A	ENSP00000453704:p.Pro241Thr						p.P241T	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	770	+			241					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.721C>A	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672296	0.29693	.	.	ENSG00000153779	ENST00000283891	T	0.71698	-0.59	2.67	1.8	0.24995	.	.	.	.	.	T	0.80879	0.4708	M	0.80183	2.485	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.66340	-0.5948	8	.	.	.	-2.2682	4.8883	0.13713	0.0:0.8202:0.0:0.1798	.	241	Q8IUE1	TF2LX_HUMAN	T	241	ENSP00000355119:P241T	.	P	+	1	0	TGIF2LX	89064461	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-0.351000	0.07711	0.546000	0.28920	0.363000	0.22086	CCA		PASS	0.463	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		22	12	22	12	---	---	---	---
SERPINA7	6906	broad.mit.edu	37	X	105279133	105279133	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chrX:105279133A>T	ENST00000327674.4	-	2	1201	c.866T>A	c.(865-867)cTg>cAg	p.L289Q	SERPINA7_ENST00000487487.1_5'UTR|SERPINA7_ENST00000372563.1_Missense_Mutation_p.L289Q			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	289					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L289Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCACTTCTTCAGTGTTTTAGA	0.483																																						uc004eme.1																			1	Substitution - Missense(1)		lung(1)		0						c.(865-867)CTG>CAG		serine (or cysteine) proteinase inhibitor, clade	Levothyroxine(DB00451)|Liothyronine(DB00279)						215.0	202.0	207.0					X																	105279133		2203	4300	6503	SO:0001583	missense	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105279133A>T	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.866T>A	X.37:g.105279133A>T	ENSP00000329374:p.Leu289Gln					SERPINA7_uc010npd.2_Missense_Mutation_p.L289Q|SERPINA7_uc010npe.1_Missense_Mutation_p.L289Q	p.L289Q	NM_000354	NP_000345	P05543	THBG_HUMAN			2	882	-			289					D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	c.866T>A	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884891	0.51908	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.90844	-2.74;-2.74	4.63	3.47	0.39725	Serpin domain (3);	0.270142	0.25922	N	0.027433	D	0.95806	0.8635	H	0.94620	3.56	0.32466	N	0.543508	D	0.89917	1.0	D	0.91635	0.999	D	0.94991	0.8134	10	0.87932	D	0	.	7.5604	0.27847	0.8954:0.0:0.1046:0.0	.	289	P05543	THBG_HUMAN	Q	289	ENSP00000329374:L289Q;ENSP00000361644:L289Q	ENSP00000329374:L289Q	L	-	2	0	SERPINA7	105165789	0.058000	0.20735	1.000000	0.80357	0.971000	0.66376	3.549000	0.53681	0.725000	0.32318	0.481000	0.45027	CTG		PASS	0.483	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		7	118	7	118	---	---	---	---
HTR2C	3358	broad.mit.edu	37	X	114082653	114082653	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chrX:114082653G>C	ENST00000276198.1	+	5	1165	c.437G>C	c.(436-438)tGc>tCc	p.C146S	HTR2C_ENST00000371951.1_Missense_Mutation_p.C146S|HTR2C_ENST00000371950.3_Missense_Mutation_p.C146S	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	146					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.C146S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ATGCACCTCTGCGCTATATCG	0.428																																						uc004epu.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(436-438)TGC>TCC		5-hydroxytryptamine (serotonin) receptor 2C	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						191.0	160.0	170.0					X																	114082653		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114082653G>C		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.437G>C	X.37:g.114082653G>C	ENSP00000276198:p.Cys146Ser					HTR2C_uc010nqc.1_Missense_Mutation_p.C146S|HTR2C_uc004epv.1_Missense_Mutation_p.C146S	p.C146S	NM_000868	NP_000859	P28335	5HT2C_HUMAN			5	1165	+			146			Helical; Name=3; (By similarity).		B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.437G>C	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181647	0.78677	.	.	ENSG00000147246	ENST00000276198;ENST00000371951;ENST00000371950	T;T;T	0.73681	-0.77;-0.77;-0.77	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85835	0.5789	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88017	0.2766	10	0.87932	D	0	.	13.6001	0.62013	0.0:0.0:1.0:0.0	.	146;146	B1AMW4;P28335	.;5HT2C_HUMAN	S	146	ENSP00000276198:C146S;ENSP00000361019:C146S;ENSP00000361018:C146S	ENSP00000276198:C146S	C	+	2	0	HTR2C	113988909	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.697000	0.98697	1.771000	0.52183	0.544000	0.68410	TGC		PASS	0.428	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		42	27	42	27	---	---	---	---
CDR1	1038	broad.mit.edu	37	X	139866289	139866289	+	Silent	SNP	A	A	G			TCGA-22-5471-01A-01D-1632-08	TCGA-22-5471-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	665e98bf-6163-4d18-9665-ba93df9ecf6d	990eb8d9-536a-4d31-a8fa-5346b6076477	g.chrX:139866289A>G	ENST00000370532.2	-	1	434	c.243T>C	c.(241-243)ttT>ttC	p.F81F		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	81	23 X 6 AA approximate repeats.							p.F81F(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TGTCTTCCAGAAAATCCTTGT	0.463																																						uc004fbg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(241-243)TTT>TTC		cerebellar degeneration-related protein 1,							74.0	73.0	74.0					X																	139866289		2203	4300	6503	SO:0001819	synonymous_variant	1038							g.chrX:139866289A>G		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.243T>C	X.37:g.139866289A>G						uc004fbf.1_RNA	p.F81F	NM_004065	NP_004056	P51861	CDR1_HUMAN			1	435	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	81			23 X 6 AA approximate repeats.|14.		Q5JXH6	Silent	SNP	ENST00000370532.2	37	c.243T>C	CCDS14670.1																																																																																				PASS	0.463	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		4	68	4	68	---	---	---	---
